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.

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.

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.

Multicenter retrospective study on management and outcome of newborns affected by surgical necrotizing enterocolitis.

BACKGROUND: Necrotizing enterocolitis (NEC) is the most common surgical emergency in newborns and it is still a leading cause of death despite the improvements reached in the management of the critically ill neonate. The purpose of this study was to evaluate risk factors, surgical treatments and outcome of surgical NEC. METHODS: We retrospectively evaluated a multicentric group of 184 patients with surgical NEC over a period of 5 years (2008-2012). Indications to operation were modified NEC Bell stages IIIA or IIIB. The main outcome was measured in terms of survival and postsurgical complications. RESULTS: Data on 184 patients who had a surgical NEC were collected. The majority of patients (153) had a primary laparotomy (83%); 10 patients had peritoneal drainage insertion alone (5%) and 21 patients had peritoneal drainage followed by laparotomy (12%). Overall mortality was 28%. Patients with lower gestational age (P=0.001), lower birth weight (P=0.001), more extensive intestinal involvement (P=0.002) and cardiac diseases (P=0.012) had a significantly higher incidence of mortality. There was no statistically significant association between free abdominal air on the X-ray and mortality (P=0.407). Mortality in the drainage group was 60%, in the laparotomy group and drainage followed by laparotomy group was of 23-24% (P=0.043). There was a high incidence of stenosis (28%) in the drainage group (P=0.002). On multivariable regression, lower birth weight, feeding, bradycardia-desaturation and extent of bowel involvement were independent predictors of mortality. CONCLUSIONS: Laparotomy was the most frequent method of treatment (83%). Primary laparotomy and drainage with laparotomy groups had similar mortalities (23-24%), while the drainage alone treatment cohort was associated with the highest mortality (60%) with statistical value (P=0.043). Consequently laparotomy is highly protective in terms of survival rate. Stenosis seemed to be statistically associated with drainage. These findings could discourage the use of peritoneal drainage versus a primary laparotomy whenever the clinical conditions of patients allow this procedure.

Gastric transposition as a valid surgical option for esophageal replacement in pediatric patients: experience from three Italian medical centers.

BACKGROUND: Esophageal replacement in children is an option that is confined to very few situations including long-gap esophageal atresia and esophageal strictures unresponsive to other therapies (peptic or caustic ingestion). The purpose of our work was to describe the experience of gastric transposition in three Italian centers. METHODS: This is a retrospective study. The data were extrapolated from a prospective database. We included all patients who had undergone gastric transposition in the last 15 years. RESULTS: In the 15-year period, eight infants and children (3 males and 5 females) underwent gastric transposition for esophageal replacement. Six patients had long-gap esophageal atresia, and two had caustic esophageal stenosis. There were no deaths in the series. Three patients had an early postoperative complication: two had a self-limited salivary fistula at three weeks, and one (a patient with jejunostomy) had a jejunal perforation treated surgically. One late complication, anastomotic stricture, was recorded that required two endoscopic dilatations. The median follow-up was 60 months (range: 18-144 months). At final clinical follow-up, six patients had no eating problems, and two patients had some difficulties with eating (jejunostomy in situ), but they underwent logopedic therapy with improved outcomes. All patients had an increase in body weight and height postoperatively. CONCLUSION: Our small study reports the clinical experience of three Italian centers in which gastric transposition was performed with excellent results, both in terms of surgical technique (simplicity, reproducibility, complication rate) and clinical follow-up (good oral feeding of young patients, normal social life and regular growth curves).

Study of intestinal function in anorectal malformations: the role of Bowel management in quality of life.

PURPOSE: We aimed at investigating bowel function in children and adolescents with anorectal malformations (ARMs) and assess their quality of life (QoL), in order to define a personal program of bowel management improving both clinical condition and self-confidence. METHODS: A total of 55 patients treated for ARM by Posterior Sagittal Ano-Recto-Plasty (PSARP) from 2000 to 2014 were included into the study. The parents of 41 patients answered two telephone questionnaires about the parents' self-efficacy and about QoL (GIQLI). A modified Peña score system was used to evaluate intestinal function. Twenty patients underwent anorectal manometry. After clinical assessment, all patients underwent an individual bowel management program. A median follow-up of 91.3 months was performed. RESULTS: A significant inverse correlation was found between Peña score and GIQLI (r:-0.93, p<0.0001). Anorectal manometry paralleled the Peña score, showing an association between megarectum and constipation and soiling subdomains, especially in patients with higher ARM. Patients who carefully followed the bowel management program had significant improvements in both continence (0.93±1.1 vs 0.45±0.9, p=0.0005) and Peña score (4.6±3 vs 3.4±2.5, p<0.0001), which positively affected their self-confidence (100±26.6 vs 110±23, p<0.0001). CONCLUSIONS: The synergy of different scores and the evaluation of anorectal physiology proved useful to define the bowel management program, which seems to significantly impact both bowel function and QoL, with specific regard to soiling. Moreover, the Peña score might be also quantitatively used, as it parallels with both anorectal manometry and GIQLI, and the latter seems to be suitable for children. Further studies are required to confirm our findings.

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.

Severe hypokalemia and hypophosphatemia presenting with carpopedal spasm associated with rhabdomyolysis.

Background Severe hypokalemia, defined as serum potassium < 2.5 mEq/L, may lead to neuromuscular, gastrointestinal, and ECG abnormalities. Neuromuscular consequences of hypokalemia include weakness, cramps, rarely paralysis, eventually progressing to rhabdomyolysis. Case presentation We report a case of a 4-year-old girl presenting carpopedal spasm and rhabdomyolysis due to severe hypokalemia associated to hypophosphatemia and hypovolemia. At one month of age she underwent an ileal resection because of a neonatal necrotizing enterocolitis, and a bowel resection at two years of age, because of sub-occlusive episodes. The child had frequent episodes of diarrhoea and was treated with oral white clay (kaolin) and a restrictive diet. Three days prior the admission to the hospital she had numerous episodes of watery diarrhoea. Laboratory tests revealed severe hypokalemia, hypophosphatemia, normal calcium levels associated with marked dehydration. An ECG demonstrated sinus bradycardia, ST-segment depression, T-wave flattening, U-wave, and long-QTc. Symmetric carpal and pedal spasms were observed. A marked rise of creatinine phosphokinase and myoglobin associated to cola colored urine was observed. Intravenous supplementation of potassium phosphate as well as adequate volume repletion led to an improvement of the clinical condition, to the disappearance of carpal and pedal spasms, to normalisation of ECG.  Conclusions Careful electrolytes and volume supplementation led to the correction of potential life-threatening arrhythmias and obtained a complete recovery from carpopedal spasm and rhabdomyolysis. Dietary restriction and pharmacological preparations as kaolin have to be administered with caution to treat diarrhea in children and particularly in those who may present other pre-existing risk factors.

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.

The role of ultrasound and antenatal single-shot fast spin-echo MRI in the evaluation of herniated bowel in case of first trimester ultrasound diagnosis of fetal gastroschisis.

OBJECTIVE: To report on a clinical antenatal management strategy based on integrating ultrasound (US) and magnetic resonance imaging (MRI) in the evaluation of herniated bowel following early prenatal diagnosis of gastroschisis. METHODS: Antenatal US and ultrafast single-shot spin-echo (SSSE) MRI. RESULTS: Fetal gastroschisis was documented at 12 weeks at the time of first trimester screening for Down syndrome. Fetal karyotype was performed at 16 weeks and showed a 46,XY karyotype. Ultrasound scan at 20 weeks diagnosed gastroschisis as isolated finding. Follow-up scans were planned monthly, and antenatal ultrafast SSSE MRI was arranged at 35 weeks and demonstrated a right fetal abdominal wall defect measuring 2.4 mm on transverse diameter with an integrity of the intra-abdominal and extra-abdominal loops of small bowel. The colon was in situ as were the stomach, the liver, and the spleen. CONCLUSIONS: The choice of integrating both the diagnostic procedures has shown to be clinically useful in planning the timing of delivery (Cesarean section) and in turn has been associated with an easy surgical repair and to a favorable postnatal outcome. The result of amniocentesis was crucial for the parent's decision-making process whether to continuing with the pregnancy. Moreover, amniotic fluid α-fetoprotein levels may be used as an index of small bowel damage when loops of small bowel lied uncovered within the amniotic cavity.

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.

Predictors of successful sexual partnering of adults with spina bifida.

PURPOSE: We assessed sexual education and function of adults with spina bifida to identify predictors of relationships and sexual activity. MATERIALS AND METHODS: A total of 290 patients with spina bifida were clustered into 6 groups based on lesion level, including men in group 1-less than L2, group 2-L3-L5 and group 3-less than S1, and women in group 4-greater than L2, group 5-L3-L5 and group 6-less than S1. Urinary continence, genital sensation and patient educational level were considered. A questionnaire on sexual education, relationship and sexual activity was administered. RESULTS: No difference in the incontinence rate was noted between males and females. Men had learned sex education from friends/media (41.6%) and women had learned it from parents (37.5%) or at school (33.7%). Genital sensation was normal in 7.2%, 53.3% and 53.5% of the patients in groups 1 to 3, respectively. Patients in group 3 had more frequent sexual intercourse than those in group 1 or 2 (30% vs 14.3% and 14.2%, respectively). Genital sensation was decreased in group 4 patients compared to those in groups 5 and 6 (44.4% vs 13% and 3.5%, respectively). Patients in group 4 were more sexually active than those in groups 5 and 6 (p <0.05). Lesion level did not affect the ability to form relationships in patients of either gender. Education level was the same across all patients with no difference when male/female groups were compared by lesion level. Predictors indicated that patients with the highest chance of finding a partner and engaging in sexual activity were those with the lowest lesion level. However, all other predictors were statistically significant (p <0.05). CONCLUSIONS: Sex counseling should be part of the regular medical care in patients with spina bifida. A difference exists between males and females when comparing lesion level and sexual activity.

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.