Long-Term Functional Outcomes of an Anorectal Malformation French National Cohort.

OBJECTIVES: The present study aimed to assess long-term functional outcomes of children with anorectal malformations (ARMs) across a network of expert centers in France. METHODS: Retrospective cross-sectional study of patients ages 6-30 years that had been surgically treated for ARM. Patient and ARM characteristics (eg, level, surgical approach) and functional outcomes were assessed in the different age groups. RESULTS: Among 367 patients, there were 155 females (42.2%) and 212 males (57.8%), 188 (51.2%) cases with, and 179 (48.8%) higher forms without, perineal fistula. Univariate and multivariate statistical analyses with logistic regression showed correlation between the level of the rectal blind pouch and voluntary bowel movements (odds ratio [OR] = 1.84 [1.31-2.57], P < 0.001), or soiling (OR = 1.72 [1.31-2.25], P < 0.001), which was also associated with the inability to discriminate between stool and gas (OR = 2.45 [1.28-4.67], P = 0.007) and the presence of constipation (OR = 2.97 [1.74-5.08], P < 0.001). Risk factors for constipation were sacral abnormalities [OR = 2.26 [1.23-4.25], P = 0.01) and surgical procedures without an abdominal approach (OR = 2.98 [1.29-6.87], P = 0.01). Only the holding of voluntary bowel movements and soiling rates improved with age. CONCLUSION: This cross-sectional study confirms a strong association between anatomical status and functional outcomes in patients surgically treated for ARM. It specifically highlights the need for long-term follow-up of all patients to help them with supportive care.

Biliary and duodenal complications after « en bloc¼ liver-small bowel transplantation in children. A single center cohort study.

BACKGROUND: The technique of « en bloc¼ liver and small bowel transplantation (L-BT) spares a biliary anastomosis, but does not protect against biliary complications. We analyze biliary and duodenal complications (BDC) in our pediatric series. METHODS: Between 1994 and 2020, 54 L-BT were performed in 53 children. The procurement technique included in situ vascular dissection and pancreatic reduction to the head until 2009 (group A). Thereafter, the whole pancreas was recovered (group B). RESULTS: Nine BDCs occurred in 8/53 (15%) patients (7 in group A and 1 in group B): leak of the donor's duodenal stump (2), stenosis of the extra-pancreatic bile duct (5), and intra-pancreatic bile duct stenosis (2). Median delay for diagnosis of stricture was 8 months (4-168). Interventional radiology was successful in one child only, the others required reoperations. Two patients died, of biliary cirrhosis or cholangitis, 15-month and 12-year post-L-BT. One was listed and liver re-transplanted 13 years post-L-BT. At last follow-up, two patients only had normal liver tests and ultrasound. CONCLUSION: BDC after L-BT can cause severe morbidities. Pancreatic reduction might increase this risk. Early surgical complications or chronic pancreatic rejection might be co-factors. Early diagnosis and treatment are key to the long-term prognosis.

Preliminary experience using a tunica vaginalis flap as the dorsal component of Bracka's urethroplasty.

OBJECTIVE: To evaluate clinical use of a tunica vaginalis flap as the dorsal component of a two-stage urethroplasty in boys with cripple hypospadias. PATIENTS AND METHODS: We performed the first stage of a Bracka two-stage urethroplasty, using a tunica vaginalis flap as the dorsal component in six boys with cripple hypospadias. We analysed their clinical characteristics and the results of this technique. RESULTS: The mean (range) age of the boys was 57 (34-120) months. The mean (range) number of previous procedures the boys had undergone was 4 (3-5). At the 6-month follow-up, all the boys presented significant fibrosis of the dorsal graft rendering it unusable for tubularisation. CONCLUSIONS: Exposure to the external environment seems to induce retraction and fibrosis of the tunica vaginalis. We believe one should be very cautious about using tunica vaginalis as the dorsal component of a two-stage urethroplasty, as significant fibrosis might well render the flap unusable.

Long-term results of the transmanubrial osteomuscular-sparing approach for pediatric tumors.

BACKGROUND: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. METHODS: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution. RESULTS: Thirteen patients (7 males, 6 females) underwent surgery at a median age of 72 months (4-188) for neuroblastoma (n = 6), ganglioneuroblastoma (n = 3), rhabdoid tumor (n = 1), melanotic schwannoma (n = 1), chordoma (n = 1), and malignant peripheral nerve sheath tumor in one patient with type 1 neurofibromatosis. The median duration of the procedure was 215 minutes (110-315). Two children presented with postoperative chylothorax that resolved spontaneously. The median duration of hospitalization was 7 days (4-22). At a median follow-up of 39 months (2-159), four patients had died of metastatic relapse (n = 2), locoregional progression (n = 1), and chemotoxicity (n = 1). The patient with melanotic schwannoma was lost to follow-up after a local relapse at 5 months. Long-term morbidity revealed homolateral Claude-Bernard Horner sign and upper limb vasomotor dysfunction in disease-free patients due to mandatory resection of the stellate ganglia. CONCLUSIONS: TOSA is a valuable surgical approach for all cervicothoracic tumors with acceptable long-term morbidity when compared with its complexity. We can therefore recommend TOSA for tumors involving the thoracic inlet.

Twenty-eight years of intestinal transplantation in Paris: experience of the oldest European center.

Our aim was to describe our achievements in pediatric intestinal transplantation (ITx) and define areas for improvement. After a period (1987-1990) of nine isolated small bowel transplants (SBTx) where only one patient survived with her graft, 110 ITx were performed on 101 children from 1994 to 2014: 60 SBTx, 45 liver-small bowel, four multivisceral (three with kidneys), and one modified multivisceral. Indications were short bowel syndrome (36), motility disorders (30), congenital enteropathies (34), and others (1). Induction treatment was introduced in 2000. Patient/graft survival with a liver-containing graft or SBTx was, respectively, 60/41% and 46/11% at 18 years. Recently, graft survival at 5/10 years was 44% and 31% for liver-containing graft and 57% and 44% for SBTx. Late graft loss occurred in 13 patients, and 7 of 10 retransplanted patients died. The main causes of death and graft loss were sepsis and rejection. Among the 55 currently living patients, 21 had a liver-containing graft, 19 a SBTx (17 after induction), and 15 were on parenteral nutrition. ITx remains a difficult procedure, and retransplantation even more so. Over the long term, graft loss was due to rejection, over-immunosuppression was not a significant problem. Multicenter studies on immunosuppression and microbiota are urgently needed.

A novel approach to evaluating the benefit of post-urinary tract infection renal ultrasonography, using decision curve analysis.

BACKGROUND: The benefit of post-urinary tract infection (UTI) sonography to detect clinically significant renal abnormalities remains a subject open to debate. Decision curve analysis (DCA) is a novel method for evaluating the clinical usefulness of diagnostic tests. Our objective was to determine, using DCA, the benefit of post-UTI sonography and of post-UTI sonography with biological markers of inflammation to predict the risk of recurrence of febrile UTI in children aged 2 to 24 months without known uropathy. METHODS: We retrospectively analyzed all children aged 2 to 24 months, without known uropathy, who presented with a first episode of febrile UTI between 2009 and 2012 and followed them for 30 months. We then used DCA to estimate the benefit of post-UTI sonography or post-UTI sonography + biological markers of inflammation for detecting the risk of recurrence. RESULTS: A total of 318 children [144 boys (45.3 %) and 174 girls (54.7 %)], with a mean age of 6.9 ± 5.6 months, were identified. Of these, 210 children presented with a significant inflammation [66.2 %; 95 % confidence interval (CI) 61.0-71.4], and 30 (9.4 %; 95 % CI 6.2-12.6) presented with abnormal post-UTI sonographic findings. Eighteen (5.7 %; 95 % CI 3.1-8.2) children presented with recurrent UTI at 30 months. CONCLUSIONS: There were significantly more recurrences in those children who presented with abnormal sonographic findings than in those who did not (relative risk 7.68; 95 % CI 3.03-19.46). However, taking into account the effect of false-positives and false negatives, the DCA revealed that for threshold probabilities of >30 %, at which patients/doctors are concerned about unnecessary interventions (whether tests or treatments), neither post-UTI sonography nor post-UTI sonography + biological markers of inflammation have sufficient value to improve care.

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.

UNLABELLED: Microvillous inclusion disease (MVID) is a congenital disorder of the enterocyte related to mutations in the MYO5B gene, leading to intractable diarrhea often necessitating intestinal transplantation (ITx). Among our cohort of 28 MVID patients, 8 developed a cholestatic liver disease akin to progressive familial intrahepatic cholestasis (PFIC). Our aim was to investigate the mechanisms by which MYO5B mutations affect hepatic biliary function and lead to cholestasis in MVID patients. Clinical and biological features and outcome were reviewed. Pretransplant liver biopsies were analyzed by immunostaining and electron microscopy. Cholestasis occurred before (n = 5) or after (n = 3) ITx and was characterized by intermittent jaundice, intractable pruritus, increased serum bile acid (BA) levels, and normal gamma-glutamyl transpeptidase activity. Liver histology showed canalicular cholestasis, mild-to-moderate fibrosis, and ultrastructural abnormalities of bile canaliculi. Portal fibrosis progressed in 5 patients. No mutation in ABCB11/BSEP or ATP8B1/FIC1 genes were identified. Immunohistochemical studies demonstrated abnormal cytoplasmic distribution of MYO5B, RAB11A, and BSEP in hepatocytes. Interruption of enterohepatic BA cycling after partial external biliary diversion or graft removal proved the most effective to ensure long-term remission. CONCLUSION: MVID patients are at risk of developing a PFIC-like liver disease that may hamper outcome after ITx. Our results suggest that cholestasis in MVID patients results from (1) impairment of the MYO5B/RAB11A apical recycling endosome pathway in hepatocytes, (2) altered targeting of BSEP to the canalicular membrane, and (3) increased ileal BA absorption. Because cholestasis worsens after ITx, indication of a combined liver ITx should be discussed in MVID patients with severe cholestasis. Future studies will need to address more specifically the effect of MYO5B dysfunction in BA homeostasis.

Ovarian function is restored after grafting of cryopreserved immature ovary in ewes.

As a result of advances in medical treatment, almost 80% of children who are diagnosed with cancer survive long-term. The adverse consequences of cancer treatments include impaired puberty and fertility. In prepubertal girls, the only therapeutic option is the cryopreservation of an ovary. To date, a dozen births have been reported after reimplantation of cryopreserved mature ovaries. To analyze ovarian function after immature grafts, we performed ovarian grafting in a ewe model. Fresh or cryopreserved ovaries from immature ewes were autografted in prepubertal or adult ewes. Cyclic hormonal activity was recovered 3 mo after grafting. Histological analysis demonstrated the presence of all follicle populations and corpora lutea not affected by cryopreservation. After 3 reproductive seasons, births had been observed in all groups, and the follicle-stimulating hormone status was under the limit, which indicated an exhausted ovary. As an indicator of potential imprinting default, the methylation status of the Igf2r gene was analyzed and did not show significant alteration compared with that of nonmanipulated animals. Taken together, these results demonstrate that immature ovarian grafting is able to restore spontaneous puberty and fertility and could guide the reimplantation of immature cortex in women.

Financial and relational impact of having a boy with posterior urethral valves.

Introduction: Childhood chronic diseases affect family functioning and well-being. The aim of this study was to measure the impact of caring for a child with PUV, and the factors that most impact the burden of care. Patients and method: We gave a questionnaire on the familial impact of having a child with posterior urethral valves to all parents of a child included in the CIRCUP trial from 2015 onwards. The questionnaire included questions about the parents' demographics, health, professional, financial and marital status and how these evolved since the child's birth as well as the "impact on family scale" (IOFS), which gives a total score ranging from 15 (no impact) to 60 (maximum impact). We then analyzed both the results of the specific demographic questions as well as the factors which influenced the IOFS score. Results: We retrieved answers for 38/51 families (74.5% response rate). The average IOFS score was 23.7 (15-51). We observed that the child's creatinine level had an effect on the IOFS score (p = 0.02), as did the parent's gender (p = 0.008), health status (p = 0.015), being limited in activity since the birth of the child (p = 0.020), being penalized in one's job (p = 0.009), being supported in one's job (p = 0.002), and decreased income (p = 0.004). Out of 38 mother/father binomials, 8/33 (24.2%) declared that they were no longer in the same relationship afterwards. Conclusion: In conclusion, having a boy with PUV significantly impacts families. The risk of parental separation and decrease in revenue is significant. Strategies aiming to decrease these factors should be put in place as soon as possible.

Risk factors for febrile urinary tract infection in boys with posterior urethral valves.

Objective: Boys with posterior urethral valves (PUV) present an increased risk of febrile urinary tract infection (fUTI). Identifying specific risk factors could allow for tailoring UTI prevention. The aim of this study was to use the data from the CIRCUP randomized controlled trial data to identify patient characteristics associated with a higher risk of fUTI. Patients and methods: We performed a secondary analysis of the data from the CIRCUP randomized trial which included boys with PUV, randomized to circumcision and antibiotic prophylaxis vs. antibiotic prophylaxis alone and followed for 2 years. There was only 1 episode of fUTI in the circumcision group vs. 17 in the uncircumcised group. We therefore only studied the antibiotic prophylaxis alone group and compared age at prenatal diagnosis, size and weight at birth, presence of dilating VUR at diagnosis, abnormal DMSA scan at 2 months, and nadir creatinine between children who presented a fUTI and those who did not, as well as age at first episode of fUTI. Results: The study group consisted of 42 patients of which 17 presented at least on fUTI. Presence of dilating VUR was significantly associated with risk of fUTI (p = 0.03), OR: 6 [CI 95% = (1.13-27.52)]. None of the other parameters were associated with increased risk of fUTI. We observed three distinct time periods for presenting a fUTI with a decrease in infection rate after the first 40 days of life, then at 240 days of life. Conclusion: In boys with PUV, presence of high-grade VUR is associated with a higher risk of presenting a fUTI. The rate of febrile UTIs seems to decrease after 9 months.

[Surgical abdominal pain in children]. / Douleurs abdomninales chirurgicales de l'enfant.

Abdominal pain in child could be related to surgical pathologies in 10 to 20 % of cases. The more frequent etiology remains appendicitis. Regarding to clinical presentation, age and medical history, intestinal intussusception, incarcerated hernia, adhesive occlusion and Meckel's diverticulum could be evocated. But the most dreadful diagnosis is malrotation with volvulus, because of mortality and morbidities induced by bowel necrosis. Usually, medical history and clinical exam allowed diagnosis. Ultrasound remains the more helpful exam in children with surgical pathologies and in some selected cases, CT scan and others biological and/or radiological exams could be performed.

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Autosomal recessive microvillus inclusion disease (MVID) is characterized by an intractable diarrhea starting within the first few weeks of life. The hallmarks of MVID are a lack of microvilli on the surface of villous enterocytes, occurrence of intracellular vacuoles lined by microvilli (microvillus inclusions), and the cytoplasmic accumulation of periodic acid-Schiff (PAS)-positive vesicles in enterocytes. Recently, we identified mutations in MYO5B, encoding the unconventional type Vb myosin motor protein, in a first cohort of nine MVID patients. In this study, we identified 15 novel nonsense and missense mutations in MYO5B in 11 unrelated MVID patients. Fluorescence microscopy, Western blotting, and electron microscopy were applied to analyze the effects of MYO5B siRNA knock-down in polarized, brush border possessing CaCo-2 cells. Loss of surface microvilli, increased formation of microvillus inclusions, and subapical enrichment of PAS-positive endomembrane compartments were induced in polarized, filter-grown CaCo-2 cells, following MYO5B knock-down. Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease.

Permanent intestinal failure.

CONTEXT: Intestinal failure (IF) requires the use of parenteral nutrition as long as it persists and may be in case of persistence an indication for intestinal transplantation. EVIDENCE ACQUISITION: Literature search was performed both electronically and manually. RESULTS AND CONCLUSIONS: Biological evaluation of IF is becoming possible with the use of plasma citrulline as a marker of intestinal mass. Short bowel syndrome (SBS) is the leading cause of intestinal failure in infants while few epidemiological data are available to date. Data on morbidity and mortality in pediatric patients with SBS are very limited while long-term outcome seems to be improving. Other causes of intestinal failure include neuro muscular intestinal disease and congenital disease of enterocyte development. The management of IF should include therapies adapted to each type and stage of IF based on a multidisciplinary approach, in centers involving pediatric surgery, pediatric gastroenterology, parenteral nutrition expertise, home parenteral nutrition program, and liver-intestinal transplantation experience. Timing for referral of patients in specialized centers remains a crucial issue. The main causes of IF are briefly reviewed emphasizing the medico-surgical strategy for prevention and care-provision, adapted to each type and stage of IF.

Acute pyelonephritis revealing an intraprostatic obstructive megaureter in an adult: A rare finding.

INTRODUCTION: Duplicated renal collecting system is one of the most common congenital upper urinary tract abnormalities. Duplex system with ectopic obstructive megaureter in the prostatic urethra is rare and exceptionally revealed in adulthood. PRESENTATION OF CASE: We present a rare case of a 72-year-old man without any previous history of urinary symptoms, admitted through the emergency department for altered general condition associated with fever for several days. Investigations have identified left complete duplex system and intraprostatic obstructive megaureter manifesting as acute pyelonephritis. The evolution of acute pyelonephritis was favorable under urine drainage by percutaneous nephrostomy tube and antibiotherapy. Given the multiple comorbidities of the patient, radical surgical treatment by left upper pole nephrectomy was ruled out and we opted for an iterative change of percutaneous nephrostomy tube. DISCUSSION: We briefly review the pathophysiology, diagnosis and therapeutic aspects. CONCLUSION: Early diagnosis and treatment of complicated duplex system is important. Urologists should keep this anomaly in mind.

ZORRO: Z Omphaloplasty Repair for Omphalocele.

PURPOSE: To suggest a novel technique for omphalocele closure which uses the circular base of the umbilical cord, thus allowing for a more physiological healing process and natural-looking scar. METHODS: Among 16 neonates operated for omphalocele between 2011 and 2016, 12 were closed with a one-stage procedure using a Z omphaloplasty (ZORRO). Median gestational age was 36.5 weeks; median birth weight was 3210 g. The umbilical arteries were divided and ligated outside the peritoneal cavity above the parietal musculocutaneous plane. The upper part of the defect was closed vertically in the midline, while the lower part was closed in a circular fashion by imbricating 2 lateral cutaneous Z flaps thus forming a new cordonal base. RESULTS: The postoperative course was uneventful in all cases. The reconstructed cordonal bases healed as would a normal umbilical cord, with central umbilication surrounded by healthy skin. With a median follow-up period of 11 months, the umbilicus was in the normal position, with a 0.6 xyphoumbilical/xyphopubic ratio. CONCLUSIONS: This technique mimics the natural necrosis mechanism and physiological healing of the umbilicus thus allowing for an esthetic and "natural looking" umbilicus.

Intestinal transplantation: current improvements and perspectives.

PURPOSE OF REVIEW: This review summarizes the most recent relevant knowledge in clinical practice in the field of intestinal transplantation. RECENT FINDINGS: Three important factors that have allowed improving results during the last few years are reviewed here. The first relates to the development of a different approach to tackle the underlying cause of intestinal failure and to the patient's characteristics in terms of liver function, age, and body size. The second involves immune modulation and especially the immunosuppressive regimen at induction. The third refers to posttransplantation monitoring, in particular the diagnosis and treatment of intestinal graft rejection and lymphoproliferative disorders. Patient status and referral for intestinal transplantation remain debated. The Intestinal Transplant Registry and a report from an individual program have demonstrated the relationship between a patient's pretransplant status and outcome. Candidacy for intestinal transplantation was analysed in a European survey of home parenteral nutrition patients. Early referral and listing are important for successful outcomes after intestinal grafting. SUMMARY: Patient management should include therapies adapted to each stage of intestinal failure based on a multidisciplinary approach in centers involving surgery, gastroenterology, parenteral nutrition expertise, home parenteral nutrition programs, and liver-intestinal transplantation experience. Timing for referral of patients in specialized centers remains a crucial issue.

Laparoscopic Splenectomy in Children: A Modified Technique with Joint Sealing of Segmental Splenic Arteries and Veins Favorably Compared with the Classic Technique.

Introduction Splenectomy in children is nowadays widely performed by laparoscopy, the major risk being operative hemorrhage. We hereby compare the results of two different techniques of vascular control. Materials and Methods We retrospectively reviewed all patients undergoing a laparoscopic splenectomy (LS) for hematologic disease at a single institution from 2004 to 2013. LS was performed by a lateral approach. The 10-mm optic port was placed in the umbilicus and two 5-mm working ports were placed in the left lower quadrant and in the right upper quadrant near the midline.An additional port was added in the epigastrium if needed. The classic technique (CT) consisted in the separate sealing and section of the splenic artery and vein above the pancreas tail. The modified technique (MT) consisted in the dissection of each segmental splenic vessel, at the lower, middle, and upper parts of the spleen. They were then divided without individualizing the artery from the vein. Results Total 69 patients were operated on at a mean age of 7.8 ± 0.6 years, 30 by CT and 39 by MT. In 20 patients (6 CT, 14 MT) a cholecystectomy was associated. The operative time, length of hospitalization, and number of postoperative complications for CT/MT were respectively 139/117 mn (p = 0.04), 3.8/3.0 days (p = 0.01), 12/3 (p = 0.002). An additional port was less needed with MT (p = 0.03). Conclusions The joint sealing of segmental splenic artery and vein appeared safe, efficient and quicker for LS, with no increased risk of operative bleeding and postoperative complications.

Management of nonparasitic splenic cysts in children: A French multicenter review of 100 cases.

BACKGROUND: The management of nonparasitic splenic cysts (NPSC) remains controversial. Surgical resection is indicated for symptomatic or complicated forms, but no guidelines are available for asymptomatic NPSC. The aims of this study were to evaluate the management of NPSC in French hospitals and to analyze the results of management. METHODS: We conducted a retrospective multicenter study from January 2004 to December 2014 in 16 university hospitals in France. Patients with a follow-up less than 6months were excluded. Data were extracted from the medical reports. RESULTS: One hundred patients were included. Median follow-up was 12.8months. No complications were observed for NPSC smaller than 5cm. The size of NPSC increased significantly between the ages of 10 and 12years. Fifteen patients were under observation; 58.3% of cysts decreased in size and 41.7% remained stable. Among the 85 operated patients, no recurrence occurred in the splenectomy group, while 11 recurrences were observed in the cystectomy group (57.9%), 3 of which required redo surgery. CONCLUSIONS: Observation is a safe treatment option for asymptomatic NPSC smaller than 5cm. Surgery is indicated for symptomatic patients, and can be proposed for asymptomatic NPSC larger than 5cm. Laparoscopic partial splenectomy is the technique of choice. Follow-up must be continued until the end of puberty. LEVELS OF EVIDENCE RATING: Level III.