High prevalence of same-sex twins in patients with cloacal exstrophy: Support for embryological association with monozygotic twinning.

PURPOSE: Previous studies have hypothesized that cloacal exstrophy may be caused by errors early in embryological development related to monozygotic twinning. This study reports the prevalence of twins in a large cohort of patients with cloacal exstrophy. METHODS: Patients with cloacal exstrophy treated 1974-2015 were reviewed for reports of multiple gestation or conjoined twinning. The genetic sex of the patient and their twin, and any mention of anomaly in the twin were recorded. Neither placental exam nor genetic testing results were available to definitively determine zygosity. RESULTS: Of 71 patients, 10 had a live born twin (14%), all of whom were of the same genetic sex as the affected patient. One additional patient's twin suffered intrauterine fetal demise, and another patient had a conjoined heteropagus twin. None of the twins were affected by exstrophy-epispadias complex. The rate of twin birth in this cohort was 4.4-7.7 higher than that reported by the Centers for Disease Control in the general population time period (P<0.001), with a striking preponderance of same-sex pairs. CONCLUSIONS: The highly significant prevalence of same-sex twin pairs within this cohort supports the hypothesis that the embryogenesis of cloacal exstrophy may be related to errors in monozygotic twinning. LEVEL OF EVIDENCE: 2b.

Growth morbidity in patients with cloacal exstrophy: a 42-year experience.

PURPOSE: Cloacal exstrophy is associated with multiple comorbidities that affect growth. This report describes long-term growth outcomes in a large cohort of patients with cloacal exstrophy and explores associated comorbidities. METHODS: Records of 71 patients with cloacal exstrophy who were treated between 1974 and 2015 were reviewed, and 62 patients with growth data from 2 to 20years of age were included. Genetic sex, gender of rearing, and all heights, weights, and comorbidities were noted for each patient. Height-for-age, weight-for-age, and body mass index z-scores (HAZ, WAZ, and BMIZ) were determined using US Centers for Disease Control 2000 growth data, and average patient z-scores were calculated. RESULTS: There were 904 height and 1301 weight measurements available for 62 patients. 31 were genetically 46,XY, 21 of whom underwent gonadectomy in infancy and were raised female. 46,XX patients, 46,XY male patients, and 46,XY female patients all had median HAZ and WAZ substantially lower than the general population, with median HAZ less than -2, while maintaining normal BMIZ. Short bowel syndrome and enterocystoplasty with intestine were associated with lower z-scores for all parameters. CONCLUSIONS: Patients with cloacal exstrophy have significant multifactorial long-term growth failure. These benchmark data can be used to further optimize management. LEVEL OF EVIDENCE: 2b.

Understanding the Operative Experience of the Practicing Pediatric Surgeon: Implications for Training and Maintaining Competency.

IMPORTANCE: The number of practicing pediatric surgeons has increased rapidly in the past 4 decades, without a significant increase in the incidence of rare diseases specific to the field. Maintenance of competency in the index procedures for these rare diseases is essential to the future of the profession. OBJECTIVE: To describe the demographic characteristics and operative experiences of practicing pediatric surgeons using Pediatric Surgery Board recertification case log data. DESIGN, SETTING, AND PARTICIPANTS: We performed a retrospective review of 5 years of pediatric surgery certification renewal applications submitted to the Pediatric Surgery Board between 2009 and 2013. A surgeon's location was defined by population as urban, large rural, small rural, or isolated. Case log data were examined to determine case volume by category and type of procedures. Surgeons were categorized according to recertification at 10, 20, or 30 years. MAIN OUTCOME AND MEASURE: Number of index cases during the preceding year. RESULTS: Of 308 recertifying pediatric surgeons, 249 (80.8%) were men, and 143 (46.4%) were 46 to 55 years of age. Most of the pediatric surgeons (304 of 308 [98.7%]) practiced in urban areas (ie, with a population >50 000 people). All recertifying applicants were clinically active. An appendectomy was the most commonly performed procedure (with a mean [SD] number of 49.3 [35.0] procedures per year), nonoperative trauma management came in second (with 20.0 [33.0] procedures per year), and inguinal hernia repair for children younger than 6 months of age came in third (with 14.7 [13.8] procedures per year). In 6 of 10 "rare" pediatric surgery cases, the mean number of procedures was less than 2. Of 308 surgeons, 193 (62.7%) had performed a neuroblastoma resection, 170 (55.2%) a kidney tumor resection, and 123 (39.9%) an operation to treat biliary atresia or choledochal cyst in the preceding year. Laparoscopy was more frequently performed in the 10-year recertification group for Nissen fundoplication, appendectomy, splenectomy, gastrostomy/jejunostomy, orchidopexy, and cholecystectomy (P < .05) but not lung resection (P = .70). It was more frequently used by surgeons recertifying in the 10-year group (used in 11 375 of 14 456 procedures [78.7%]) than by surgeons recertifying in the 20-year (used in 6214 of 8712 procedures [71.3%]) or 30-year group (used in 2022 of 3805 procedures [53.1%]). CONCLUSIONS AND RELEVANCE: Practicing pediatric surgeons receive limited exposure to index cases after training. With regard to maintaining competency in an era in which health care outcomes have become increasingly important, these results are concerning.

What is the optimal treatment for children with primary hyperparathyroidism?

PURPOSE: Little information exists regarding the optimal surgical treatment of pediatric primary hyperparathyroidism. We hypothesized that primary hyperparathyroidism in children, in the absence of a family history, is caused by single-gland disease and is amenable to minimally invasive parathyroidectomy (MIP). METHODS: We reviewed the records of individuals younger than 25 years who underwent parathyroidectomy in a prospectively collected database at a single tertiary hospital from 2003 to 2009. RESULTS: Twenty-five patients were identified, with a mean (SD) age of 19 (3.7) years. Sixty percent had single-gland disease (n = 15). Familial disease was present in 6 patients. All of the children younger than 18 years without a family history of disease (9/9) were found to have a single-gland disease (P < .001). Seventy-eight percent of patients without a family history were successfully treated without a bilateral exploration. Average length of stay was less than 1 day with no complications or recurrences. CONCLUSIONS: Primary hyperparathyroidism in patients younger than 18 years without a family history was uniformly caused by single-gland disease. Minimally invasive parathyroidectomy was successful in these patients and avoided the morbidity of bilateral exploration. We recommend MIP be used in pediatric patients at large referral centers with prior successful institutional experience with the technique.

Portal vein thrombus after pediatric proctocolectomy with ileoanal anastomosis.

In adults, mesenteric venous thrombosis with extension into the portal system is a known complication of total proctocolectomy with pouch ileoanal anastomosis. Although frequently reported in adults, this complication is rare in pediatric patients undergoing this operation. We report 2 cases of adolescent patients with ulcerative colitis who experienced portal vein thrombosis after this procedure. Both were treated with systemic anticoagulation therapy with complete resolution of their clots. We recommend that mesenteric/portal venous thrombosis be considered in the differential diagnosis in any child presenting with fever, abdominal pain, and leukocytosis after restorative proctocolectomy with ileal pouch anastomosis and that imaging obtained to evaluate abdominal complaints in this population be directed toward ruling out this complication.

Age-related differences in diagnosis and morbidity of intestinal malrotation.

BACKGROUND: Intestinal malrotation in adulthood may present with a variety of chronic symptoms. Surgical intervention frequently leads to other complications in these patients. We hypothesized that the chronic nature of malrotation in adults could cause a delay in diagnosis and increased perioperative complications. STUDY DESIGN: All patients diagnosed with intestinal malrotation from July 2002 through July 2006 were included. IRB approval was obtained. Outcomes in patients less than 16 years of age were compared with outcomes from those older than 16. Presenting symptoms, initial diagnosis, results of imaging data, and time to diagnosis were evaluated. Surgical management, resulting complications, and rate of reoperation were analyzed. RESULTS: Twenty-four patients with intestinal malrotation were identified (age range, 10 days to 89 years old; 10 adults, 14 children). Seventy percent of adults experienced chronic symptoms for 6 months or more before the diagnosis of malrotation was made (children, 14%, p = 0.017). No patients in the adult group were initially diagnosed with malrotation, although 57% of children were correctly diagnosed at the time of presentation of symptoms (p=0.006). Postoperative complications occurred in 60% of adults, but in only 29% of children, though this did not reach significance (p=0.211). Forty percent of adult patients required reoperation (p=0.020). CONCLUSIONS: Intestinal malrotation in adults is often associated with a delay in diagnosis and increased morbidity. Enhanced awareness of this entity in adults may enhance patient counseling and improve therapeutic outcomes in these patients.

Omental lipoblastoma.

A large intra-abdominal mass was discovered in a 6-month-old boy during a routine well-child examination. Imaging studies revealed a solid mass which appeared to arise from the left lobe of the liver, extending caudally and filling the entire pelvis. At the time of surgical excision, the mass was found to be unassociated with the liver, but was instead localized to the omentum. Histologic examination revealed adipocytes of varying stages of maturation arranged in a lobular architecture, consistent with a lipoblastoma. This unusual tumor is only the eighth reported omental lipoblastoma [J. Hicks, A. Dilley, D. Patel, J. Barrish, S. Zhu, M. Brandt, Lipoblastoma and lipoblastomatosis in infancy and childhood: histologic, ultrastructural, and cytogenetic features. Ultrastruct. Pathol. 25 (2001) 321-333; J. Harrer, G. Hammon, T. Wagner, M. Bolkenius, Lipoblastoma and lipoblastomatosis: a report of two cases and review of the literature. Eur. J. Pediatr. Surg. 11 (2001) 342-349; S. Weiss and J. Goldblum, Enzinger and Weiss's Soft Tissue Tumors, fourth ed., Mosby, St. Louis, MO, 2001, pp. 601-605, 670-686; S. Soin, S. Andronikou, R. Lisle, K. Platt, K. Lakhoo, Omental lipoblastoma in a child; diagnosis based in CT density measurements. J. Pediatr. Hematol. Oncol. 28(1) (2006) 57-58; A. Prando, S. Wallace, J.L. Marins, R.M. Pereira, E.R. de Oliveira, M. Alvarenga, Sonographic features of benign intraperitoneal lipomatous tumors in children-report of 4 cases. Pediatr. Radiol. 20(8) (1990) 571-574; C. Blank, E. Schoenmakers, P. Rogalla, E. Huys, A. Van Rijk, N. Drieschner, J. Bullerdiek, Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. Cytogenet. Cell Genet. 95 (2001) 17-19; S. Ingraham, R. Lynch, S. Kathiresan, A. Buckler, A. Menon, hREC2, a RAD51-like gene, is disrupted by t(12;14)(q15;q24.1) in a uterine leiomyoma. Cancer Genet. Cytogenet. 115 (1999) 56-61]. Cytogenetics revealed a karyotype of 46,XY,t(8;14)(q13;q24). While lipoblastomas characteristically involve 8q, only one prior case has been reported with 14q24 as its fusion partner [M. He, K. Das, M. Blacksin, J. Benevenia, M. Hameed, A translocation involving the placental growth factor gene is identified in an epithelioid hemangioendothelioma. Cancer Genet. Cytogenet. 168 (2006) 150-154]. We report this unique case of an omental lipoblastoma with a focus on its unusual karyotype, as well as its differentiation from myxoid liposarcoma.

Colonic adenocarcinoma in a 13-year-old with cystic fibrosis.

The increase in longevity among patients with cystic fibrosis has brought to light comorbidities associated with the disease that are less acutely fatal than its pulmonary manifestations. Modern retrospective analysis has demonstrated an increased risk of gastrointestinal malignancy in patients with cystic fibrosis, with a marked elevation in malignancy rates among patients in their 20s and 30s. Here we report a case of colonic adenocarcinoma presenting as pneumaturia in a 13-year-old patient with cystic fibrosis.

Product line development: a strategy for clinical success in academic centers.

OBJECTIVE: Academic medical centers, which have traditionally been relatively inefficient, have increasing difficulty in meeting the missions of patient care, teaching, and research in a progressively competitive medical marketplace. One strategy for improved efficiency in patient care while keeping quality high is utilization of a product line matrix. This study addresses the outcome of utilizing a product line strategy consisting of 3 service lines during the past 5 years at the University of Wisconsin Hospital and Clinics (UWHC). METHODS: Service lines in heart and vascular surgery, oncology, and pediatrics have been organized since 2001, and report directly to hospital leadership as a product line. Service line leadership consists of a combination of medical leaders plus representatives of hospital administration, and service lines are allowed direct access to resources for program development, marketing, and resource allocation. Measurements of patient numbers, market share, length of stay, net margin, and patient satisfaction have been gathered and compared with the preproduct line era. RESULTS: In the 3 service lines, UWHC has seen variable but steady growth in patient numbers, enhanced market share, positive net margins, and improved patient satisfaction during the period of measurement. During this same period, the insurance milieu has resulted in consistent downward pressure on reimbursement, which has been offset by improved patient care efficiency as measured by length of stay, enhanced preferred provider status, and gains in market share. Scorecard measures of quality are also being developed and show enhanced teaching and research opportunities for students and trainees as well as improved Press Ganey patient satisfaction scores. CONCLUSIONS: At UWHC, the development of a product line matrix consisting of 3 service lines has resulted in more patient care efficiency, enhanced patient satisfaction, improved margin for the hospital, and enlargement of teaching and research opportunities. The key to successful implementation of the product line concept is a close working relationship between the hospital administration and service line medical leadership.

Common anorectal problems.

Children, just as adults, have a variety of common anorectal problems that can be quite bothersome. The presentation of these problems may be age-specific. Abscesses, fistulas, and fissures appear more commonly in infants and young children, whereas hemorrhoids and pilonidal disease are more common in teens and young adults. Fissures often can be treated medically but may require surgical treatment with lateral internal sphincterotomy. Abscesses and fistulas are common in infant males, especially robust infants who are breastfed. They may resolve with medical therapy but anal fistulotomy is not infrequently required. Hemorrhoids are rare in young children but may be an issue for teenagers. Acute symptomatic lesions may require excision if local measures cannot control the symptoms. Finally, pilonidal disease is a difficult problem for the patient and the surgeon. Persistently symptomatic lesions demand some type of surgical treatment but wound healing is poor in the intergluteal cleft region. More extensive procedures requiring the transfer of fasciocutaneous flaps may be necessary to provide definitive relief. Anorectal problems in infants and children are frequent and bothersome. Although most are not associated with tremendous morbidity, they can lead to much patient and parent anxiety as well as frequent medical consultation until the problem is successfully treated or resolves.

Acute diverticulitis after Duhamel-Martin procedure for total colonic Hirschsprung's disease.

A 28-year-old man with a history of total colonic Hirschsprung's disease treated with a Duhamel-Martin procedure in infancy, presented with signs and symptoms of acute colonic diverticulitis. Flexible sigmoidoscopy demonstrated a 20 cm jejunocolonic anastomosis, consistent with his previous operation in childhood, with a large diverticulum at the proximal end of the anastomosis containing fecal concretions. The patient returned one month later after a course of antibiotics for definitive resection of the diverticulum. Intra-operative colonoscopy localized three large diverticula and resection of the involved segment was performed. The case is presented as an adult complication of total colonic Hirschsprung's disease treated with childhood resection and reconstruction.

Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding.

OBJECTIVE: We report the largest clinical experience to date of surgically treated patients with blue rubber bleb nevus syndrome (BRBNS). SUMMARY BACKGROUND DATA: BRBNS is a rare congenital disorder presenting with multifocal venous malformations of the skin, soft tissues, and gastrointestinal (GI) tract. Patients with BRBNS develop anemia from chronic GI bleeding, and require lifelong treatment with iron and blood transfusions. An aggressive surgical approach to treat the GI venous malformations of BRBNS has been considered unlikely to be successful because of the large number of lesions, their position throughout the GI tract, and the likelihood of recurrence. Based on our belief that eradicated lesions would not recur, we undertook the removal of all GI tract lesions in an effort to eliminate bleeding. METHODS: Ten patients with BRBNS were treated from 1993 to 2002. Lesions were identified using complete GI endoscopy. The multiple venous malformations were removed by a combination of wedge resection, polypectomy, suture-ligation, segmental bowel resection, and band ligation. RESULTS: Patient ages ranged from 2 to 36 years, and patients received an average of 53 prior blood transfusions. A mean of 137 focal GI venous malformations per patient were resected at operation (range 4-557), with a mean operative duration of 14 hours (range 7-23 hours). Only 1 patient who had a less extensive procedure developed recurrent GI bleeding. The mean follow-up period was 5.0 years (range 2.9-10.3 years). CONCLUSIONS: We believe that an aggressive excisional approach is indicated for the venous anomalies that cause GI bleeding in BRBNS.

Perforation of the appendix from intestinal mucormycosis in a neonate.

A premature neonate had pneumoperitoneum 5 days after discontinuation of extracorporeal membrane oxygenation therapy. A perforated appendix was found at exploratory laparotomy. Pathologic examination of the appendix found mucormycosis.

Ileo-anal S-Pouch reconstruction in patients with total colonic aganglionosis after failed pull-through procedure.

Total colonic aganglionosis (TCA) occurs in 3% to 12% of Hirschsprung's disease patients. Although numerous surgical techniques have been utilized for the treatment of these patients, little information is available regarding optimal surgical management of their frequent complications or failured procedures. The ileoanal S pouch (IASP) technique has been utilized in the treatment of children with familial adenomatous polyposis and ulcerative colitis. The authors present the results of salvage IASP in 3 TCA patients who had poor results after total colectomy and Soave pull-through.