Bedside surgery in the newborn infants: survey of the Italian society of pediatric surgery.

INTRODUCTION: This is the report of the first official survey from the Italian Society of Pediatric Surgery (ISPS) to appraise the distribution and organization of bedside surgery in the neonatal intensive care units (NICU) in Italy. METHODS: A questionnaire requesting general data, staff data and workload data of the centers was developed and sent by means of an online cloud-based software instrument to all Italian pediatric surgery Units. RESULTS: The survey was answered by 34 (65%) out of 52 centers. NICU bedside surgery is reported in 81.8% of the pediatric surgery centers. A lower prevalence of bedside surgical practice in the NICU was reported for Southern Italy and the islands than for Northern Italy and Central Italy (Southern

Megarectosigmoid in anorectal malformations: the role of laparoscopic resection.

Surgical treatment for anorectal malformations may lead to chronic constipation or stool incontinence. The first condition is mostly linked to an abnormal dilation of rectum and sigma and it is primarily managed with medical therapy (laxatives, diet and enemas). When medical therapy fails to improve the symptoms, a surgical resection of the dilated colon is advocated. When performing the procedure it is mandatory to consider all the previous operations the patient undergone. We present a laparoscopic left emicolectomy for an extremely dilated megarectosimoid after posterior sagittal anorectoplasty in childhood for a recto-urethral fistula.

Chronic inguinal pain in children.

PURPOSE: To present our experience in the management of chronic groin pain in children. METHODS: We report 4 patients (age range 0-18 years old) who presented with history of chronic groin pain (April 2010 January 2017). After failure of all conservative treatments they underwent surgical management as ultima ratio. RESULTS: Currently, there is no consensus on treatment of 'Sportsman's Hernia' and literature on paediatric population is still poor. There are no appropriate randomised controlled trials supporting a standardized management of chronic groin pain. Initial approach should be conservative [Physical Medicine and Rehabilitation (PM&R) follow-up for 3-6 months] and surgical treatment proposed after failure of conservative therapies. It is advisable to consider surgery at least months after clinical onset. More recently, some studies suggested surgery as a first line treatment. Most of surgical cases manage to recover to full activity without pain, as reported in our experience. Surgical approach to the groin can be anterior (open) or posterior (laparoscopic), both these procedures have shown good results. Surgeons having different opinions on the aetiology of 'Sportsman's Hernia' may sustain the suitability of different surgical techniques. In our experience, pain was localized at the pubic tubercle therefore we preferred the 'open' approach ensuring a successful release of ilioinguinal and genitofemoral nerves. CONCLUSIONS: Children with chronic groin pain can benefit of surgical treatment. In our experience, surgery always proved to be successful for treating chronic groin pain in paediatric age. Further multicentric studies are needed to support these results. KEY WORDS: Bernhardt-Roth syndrome, Children, Chronic groin pain, Chronic inguinal pain, Meralgia Paraesthetic, Sportsman's Hernia.

Diagnostic Criteria of Pediatric Intestinal Myopathies.

The authors aim to identify criteria for the diagnosis of intestinal visceral myopathy (IVM); results were compared with ultrastructural studies. Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar transumbilical laparoscopic intestinal full-thickness biopsy technique. Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies. IVM histological examination demonstrated thinning of longitudinal muscle layer. The ratio of circular/longitudinal thickness was evaluated in all samples; in cases, this ratio presented as a mean value of 2.91, and in controls, a mean value of 1.472 (P = 0.0002). Ultrastructural diagnosis revealed variable myofibrils density in smooth muscle cells, irregularity of sarcolemma membranes, interstitial fibrosis, and myofiber disarray. The authors concluded that in IVM, circular/longitudinal thickness ratio and alpha smooth muscle actin staining can be used as significant tools to address the diagnosis.

Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation.

Abnormalities in "low" anorectal malformations (ARMs) and functional results resecting the distal 3 cm.

PURPOSE: "Low" anorectal malformations (ARMs) are considered minor anomalies of the distal rectum and anal-canal development. Nonetheless, the prognosis of affected patients is far from excellent, as some degree of constipation is a frequent complaint in the long-term follow-up. Constipation in "low" ARM has been reported in 42%-70% of cases. Vestibular fistulas seem to have the highest rate of constipation (not less than 61.4%). The aim of this study was to evaluate all the histological wall abnormalities of ARM with recto-perineal and recto-vestibular fistulas in order to identify features that could explain the bowel dysfunctions. Moreover, the resection of distal perineal and vestibular fistulas (last 3 cm) allowed evaluating functional results in "low" ARM series with extensive fistula resection. METHODS: One hundred four specimens were collected from 52 patients (32 recto-perineal and 20 recto-vestibular fistulas) during the posterior sagittal anorectoplasty (PSARP). The distal 3 cm of aberrant anorectal canals (fistulas) was systematically resected and divided longitudinally. One portion was fixed for immuno-histochemical stainings (PGP 9.5, S-100, NSE), H&E, and tricromic stainings. The frozen sections of the second portion were incubated for enzyme histochemical stainings (AChE, etc.). The follow-up of 42 of 52 ARM was postoperatively evaluated at 3-8 years of age, and the assessment of the outcome after PSARP repair was in line with Krickenbeck's 2005 meeting parameters. RESULTS: Muscle coat was abnormal in all cases (100%), showing aspect and absence of organization into the circular and longitudinal layers. The connective tissue was found to be irregular and abnormally represented in 100% of cases. Abnormal vascularization was detected in 5 cases (9.6%). All vestibular (100%) and 71.8% of perineal fistulas showed different degrees of enteric nervous system (ENS) anomalies. In the series of 42 patients followed up at least after 3 years of age, 40 cases (95.2%) showed postoperative good continence without use of laxatives (according to Krickenbeck's 2005 criteria). CONCLUSION: Every wall component of the distal rectum can be affected by different structural abnormalities in "low" ARMs. Pediatric surgeons should take into consideration the implications of these structural abnormalities during radical treatment. The resection of a significant portion of the distal fistula seems to permit better functional results.

Multiple endocrine neoplasias type 2B and RET proto-oncogene.

Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.

Endoscopic treatment of vesicoureteric reflux in paediatric patient: results of a long-term study.

BACKGROUND AND AIM OF THE WORK: Vesicoureteric reflux is the most common uropathy in paediatric age. It may be treated with open surgery, antibiotic therapy or endoscopic injection. The purpose of this work is to determine outcomes and experiences of parents with children who underwent endoscopic treatment for VUR. MATERIALS AND METHODS: In a period of 5 years (from 2004 to 2009) 48 patients (20 boys and 28 girls, mean age 5,5, range 1-17) underwent endoscopic treatment for VUR. Sample included 31 cases of primary reflux (64,6%), 11 complex cases of VUR (6 duplex system, 3 duplex system with ureterocoele, 2 bladder exstrophy) and 6 children (12,5%) with VUR secondary to neurogenic bladder. All procedures were performed by the same surgeon. A questionnaire assessing experiences with endoscopic treatment was administered to all families. RESULTS: Follow-up lasted from a minimum of 6 months to 5 years. Overall cure rate was 68,7% (33/48) per child after a single injection, a second injection performed in cases with VUR recurrence raised it to 81,2% (39/48 patients). Overall cure rate per grade of VUR was 60% (3/5) for grade I, 94,1% (16/17) for grade II, 86,9% (20/23) for grade III, 64,7% (11/17) for grade IV and 85,7% (6/7) for grade V. Minimal postoperative complications were recorded: 2,1% urinary tract obstruction, 12,5% macro-haematuria, 6,2% lumbar pain, 4,1% urinary retention or strangury. The results of the survey given to families were encouraging. CONCLUSIONS: Endoscopic treatment for VUR seems to be a feasible procedure as primary intervention.

Sexuality and psychosocial functioning in young women after colovaginoplasty.

PURPOSE: We examined sexuality and psychosocial functioning in patients with Mayer-Rokitansky-Kuster-Hauser syndrome who underwent colovaginoplasty. MATERIALS AND METHODS: Patients who underwent colovaginoplasty for Mayer-Rokitansky-Kuster-Hauser syndrome in Italy and Bangladesh were required to meet certain criteria, including age greater than 18 years, college degree/high socioeconomic status, procedure done by the same surgical team and a minimum 6-year followup. Outcomes were evaluated by a retrospective chart review and an English version of the female sexual function index. Psychosocial functioning was measured by an English version of a 36-item survey, including the Rosenberg Self-Esteem Scale, Beck Depression Index and Cohen Test for Life Management ability with results compared to those in 30 healthy control subjects. RESULTS: Of 40 patients who answered the female sexual function index 37% were married and 12% had adopted children while 40% were sexually active, 100% were attracted to males and 7% were on self-dilation. None required pads and 80% used a home douche. Of the patients 92% reported sexual desire and 87% reported sexual arousal. Sexual confidence and satisfaction were reported by approximately 90% of the patients and partner satisfaction was considered adequate by 93%. Most patients reported satisfactory orgasm. Of the women 89% reported adequate lubrication and none reported dyspareunia. Psychosocial functioning was not statistically different between patients and controls. CONCLUSIONS: Based on the scoring system outcome colovaginoplasty seems to be an excellent choice to manage vaginal agenesis and ensure good quality of general and sexual life.

Treatment of congenital anomalies in a missionary hospital in Bangladesh: results of 17 paediatric surgical missions.

BACKGROUND AND AIM OF THE WORK: We report 17 years of experience in a missionary hospital with decreased facilities in Bangladesh. Our interest was directed at children with congenital malformations since they live in a society where the exclusion of abnormal children is common. A better treatment for these children offers them a better future. MATERIALS AND METHODS: Bangladesh is among the most densely populated countries in the world: its population ranges from 142 to 159 million, and it is one of the poorest nations in the world. From 1991 to 2008 our Italian pediatric surgical team performed 17 5 weeks missions in a missionary hospital in Khulna, Bangladesh, during the months of January and February. RESULTS: A total of 1556 patients underwent surgery, mostly for severe congenital anomalies. The infection rates were very low: 2-3%; the mortality rate was 0.4% for all the operations. CONCLUSIONS: Good pre-operative preparation and assistance, assurance of cyclical follow-up and a trained surgical team allowed the successful treatment of complex malformations in a missionary hospital with modest services.

Treatment of vaginal atresia at a missionary hospital in Bangladesh: results and followup of 20 cases.

PURPOSE: We report a 9-year experience with successful treatment of patients with vaginal atresia at a missionary hospital with decreased facilities in Bangladesh. MATERIALS AND METHODS: From 1995 to 2002, 20 patients 10 to 29 years old (average age 18.4) with Mayer-Rokitansky-Kuster-Hauser syndrome underwent total vaginal replacement. Ten of the 20 females were married and the anomaly was discovered after marriage. In the remaining 10 cases the diagnosis was suspected by the parents because of absent menstruation. In all patients the neovagina was created using a 12 to 14 cm segment of distal sigmoid colon. RESULTS: Short-term morbidity was minimal. At the long-term followup, which was available for 16 patients, the neovagina had a good-appearing introitus. No stenosis, stones or colitis was reported. Six patients already had an active sexual life, which was reported to be satisfactory. Five couples had already adopted 1 or more children. CONCLUSIONS: Good perioperative preparation and assistance, assurance of cyclical followup and a trained surgical team permitted successful treatment of a complex genital malformation at a missionary hospital with modest services. Sigmoid vaginoplasty in a developing country seems to be the best choice because of simple management and followup. Young women unable to procreate because of vaginal atresia seem to have an unexpected normal family and social acceptance in Bangladesh after complete vaginal replacement.