Rossella Arnoldi's research while affiliated with Azienda Ospedaliera SS Arrigo e Biagio e Cesare Arrigo and other places

Background: Intrasphincteric botulinum toxin (Botox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study was to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. Methods: All consecutive HSCR patients who received intrasphincteric Botox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long-term was administered to all families. Results: In the study period 64 intrasphincteric Botox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% and 100% of success rates, respectively). No major complications occurred. Minor complications were described by 7 patients (26%). Conclusions: Intrasphincteric Botox injection proved to be feasible, safe and reasonably effective in children with HSCR and postoperative anal achalasia. Infants and toddlers with long HSCR forms and recurrent bouts of enterocolitis are those who would benefit most from this treatment.

Background Congenital anomalies of the kidney and urinary tract (CAKUT) have been underestimated in Hirschsprung disease (HSCR). This paper aims at reporting results of patients with HSCR who underwent kidney and urinary tract assessment.Methods Patients seen between December 2005 and November 2020 underwent a complete kidney and urinary tract diagnostic workup. Data regarding CAKUT, gender, length of aganglionosis, familial history, HSCR-associated enterocolitis (HAEC), RET genotype, and outcome were collected.ResultsOut of 472 patients, 280 completed the workup and represented the focus. Male to female ratio was 3.24:1. Familial cases accounted for 9.8% of patients. RET mutations were detected in 19.8%. We encountered a total of 61 patients with 70 nephrological issues (21.8%), including 28 hypoplasia/dysplasia, 12 hydronephrosis, 11 vesicoureteric reflux, 7 duplex collecting system, 2 kidney agenesis, 2 horseshoe kidney, and 8 miscellanea, involving 91 kidneys without side preponderance (50 right, 41 left). Of these 61 patients, 20 (7.1% of the whole series) required medical or surgical treatment. When comparing patients with and without CAKUT, familial history proved to occur with a significantly lower frequency in the former as did better patient perspectives of outcome.Conclusions We confirmed that all diagnostic workups in HSCR should include a complete kidney and urinary tract diagnostic workup. Our study suggests that genes other than RET could play a role in determining CAKUT. Given worse patient perspectives of outcome, CAKUT seems to significantly interfere with quality of life thus confirming the need for early diagnosis and tailored prevention strategies.Graphical abstract

Introduction: To reoperate a patient with Hirschsprung disease (HSCR) can be technically demanding and most surgeons would resort to conventional laparotomy. This article describes a series of patients with postoperative obstructive symptoms who underwent minimally invasive redo pull-throughs (MIRPT) (either laparoscopic or robotic) to assess the role of minimally invasive surgery (MIS) in complicated HSCR patients. Patients and Methods: All consecutive HSCR patients with postoperative obstructive symptoms, who underwent MIRPT with fast track concepts of care between January 2012 and January 2020, have been included. Data regarding indications, surgical details, complications, and outcome have been compared to those of a series of patients who underwent conventional laparotomic redo. Results: Sixteen patients were included. Male to female ratio was 4.3:1. Median age at surgery was 78 months. Eleven patients underwent laparoscopic redo and 5 underwent robotic redo. Median length of follow-up was 49 months. Reasons for redoing were transition zone pull-through, residual aganglionosis, anastomotic retraction or leak, rectal diverticulum, and refractory anastomotic stricture. No major intraoperative complication occurred. No conversion to laparotomy was required. One patient experienced cuff stricture requiring laparoscopic release. Two patients reported bouts of enterocolitis postoperatively. Compared to classic laparotomic redo pull-throughs (49 patients with complete data), overall complications were significantly less frequent, accounting for 1 and 21 events, respectively (6% versus 43%) (P = .0067). Continence after a median of 21 months postoperatively scored excellent to good in 9 out of 12 patients, who were assessed on this regard (75%), without statistically significant differences. Conclusions: MIRPT proved to be effective and safe in HSCR patients complaining postoperative obstructive symptoms. Robotic surgery could play a crucial. Our study confirms that complicated HSCR cases can be safely managed by means of MIS, applying concepts of fast track care to serve the best for our patients.

INTRODUCTION – During Covid-19 pandemic, some elective non-deferrable surgical procedures has been maintained on a local basis to avoid complications of time-dependent issues. The aim of this paper is to suggest a possible strategy for the management of patients with Hirschsprung (HSCR) during this dramatic Covid-19 pandemic considering. MATERIALS AND METHODS - A systematic literature search on PubMed and Embase of all available literature addressing “Hirschsprung”, “preoperative enterocolitis”, “preoperative mortality”, “complications”, and “timing” in all possible combination has been performed limiting documents to the last 10 years and excluding non-English papers. RESULTS – Systematic review assessed 170 papers and focused on 10 full-text papers addressing the same issues as above. The incidence of preoperative HAEC proved to be as high as 34% with a mortality between 2.4% and 8%. Age at surgery varied in literature reports but recent evidences suggested that patients should be operated around 3 months of age after effective bowel decompression. Rectal irrigations should not be continued over 2 to 4 months to avoid nutritional issues and subsequent possible increase of surgical complications. CONCLUSIONS – Based on available literature, contingent shortage of health resources and necessity to avoid hospital overcrowding during this pandemic, we suggest as follows: 1) surgery should be delayed for healthy neonates up to 3 months of age, and a diverting enterostomy consider for those with ultralong HSCR, unwell or with ineffective nursing; 2) surgery can be delayed but rectal irrigations cannot be maintained indefinitely (ideally within 2 to 4 months at maximum); 3) Surgery could be postponed in older patients, provided previous bouts of HAEC are excluded. This chosen behaviour of our Center for Digestive Diseases aims at avoiding risk of complication and serve the best for our patients in this delicate setting of Covid-19 pandemic.

IntroductionSince Hirschsprung’s disease (HSCR) already proved to benefit from robotic surgery, we aimed at describing a wider series of patients with this rare disease who were operated on with a robotic approach.Patients and methodsAll consecutive HSCR patients who underwent totally robotic soave pull-through (TRSPT), between October 2015 and June 2019, have been included. Ethical Committee approval was obtained. Data regarding clinical features, technical details, complications, hospital stay, and functional outcome have been prospectively collected for each patient.ResultsEleven patients have been included. Mean age at surgery was 29 months. Median length of surgery was 420 min. Median console time was 180 min. Six patients suffered from rectosigmoid aganglionosis, three from long HSCR (extending up to the hepatic flexure), two from total colonic aganglionosis. No major intraoperative complications occurred. Four patients (three of whom carrying a stoma) experienced minor mucosal tearing during dissection. One anastomotic stricture required dilatation under general anesthesia and two cuff strictures required cuff release (both occurring in patients who experienced intraoperative mucosal tearing). Follow-up lasted a median of 12 months. One patient experienced mild postoperative enterocolitis. Continence scored excellent-to-good in all patients who could be assessed on that regard (7 out of 11).Conclusions Provided a number of technical key points are respected, the outcome of TRSPT for HSCR is promising. Younger patients, particularly those carrying a stoma, proved to be technically demanding and deserve a longer learning curve. Accurate preoperative bowel preparation, correct trocar placement and patient positioning proved to be crucial aspects of treatment. To conclude, TRSPT is particularly suitable for older HSCR patients, even those requiring a redo, and represents a valid alternative to available surgical option for this delicate subgroup of HSCR patients.

Placement of gastrostomy for long-term enteral feeding and therapeutic purposes is fundamental in management of several issues in children including neurologic or metabolic diseases, intestinal failure, oesophageal obstruction and others. In 1980, Gauderer et al. [1] introduced the concept of percutaneous endoscopic gastrostomy (PEG) which reached a wide application due to its minimal invasiveness and low cost. However, it may result not applicable to small children or to those carrying anatomical features which may increase the risk of complication during or after PEG procedure.

Introduction: The association of Hirschsprung disease (HSCR) and Down Syndrome (DS) is not uncommon (HSCR+DS). This paper aims at reporting the results of a 24-year series focusing on surgical approach, complications and long term outcome. Materials and methods: The notes of all patients admitted with a diagnosis of HSCR+DS have been retrospectively reviewed. Surgical details, intraoperative complications, long term issues and functional outcome have been recorded. The results have been compared to those of patients without DS and were assessed based on surgical approach. Results: A total of 23 HSCR+DS out of a series of 385 HSCR (6%) have been included. Preoperative enterocolitis (HAEC) was reported by 32%. Associated anomalies were detected in more than half of the patients. In particular, Congenital Heart Defects (CHDs) were reported by 57%. Postoperative complications (mostly symptomatic anal sphincter achalasia) were experienced by 55%. Constipation was experienced by 30%; severe continence issues, by 53%. One patient suffering from severe CHDs died. With regard to complications, only symptomatic anal achalasia requiring intrasphincteric BoTox injection was significantly more frequent in HSCR+DS (30% vs 10%, p = 0.0071). Similarly, continence proved to be significantly worse in HSCR+DS. Discussion: With the exception of symptomatic anal achalasia, HSCR+DS patients proved not to have a higher likelihood of complications compared to HSCR alone. On the other hand, functional results in the long term are worse. As a consequence, long term follow up and personalized rehabilitation programs are warranted for this delicate subset of HSCR patients. Level of evidence: Level III.

Introduction Velopharyngeal insufficiency (VPI) is the inability to close the velopharyngeal sphincter during phonation and/or feeding. VPI is clinically characterised by hypernasal speech and nasal regurgitation. In cases of severe VPI, pharyngoplasty is recommended. Cases of mild-to-moderate VPI can be treated with fat grafting of the posterior pharyngeal wall in addition to speech therapy. The lipofilling can also be useful after pharyngoplasty to improve the outcomes. Materials and Methods Twenty-one patients (14 males and 7 females), ages 4–23 affected by mild-to-moderate VPI and treated with lipofilling were included in this retrospective study. The mean injected fat volume was 7.95 cc (median 6 cc, min 4 cc, max 20 cc and range 16 cc). The follow-up ranged from 6 to 60 months. The pre- and post-operative Borel–Maisonny scores were compared using Wilcoxon test. Moreover, we performed a telephone survey with the aim to assess the parental perception on child's speech and quality of life after the surgical treatment. Results Despite the small sample size, in this case series, we observed a statistically significant Borel–Maisonny score improvement and a parental satisfaction rate of about 85%. Conclusions The augmentation of the posterior pharyngeal wall in addition to speech therapy improved the Borel–Maisonny score and the intelligibility of this case series of patients affected by mild-to-moderate VPI. In these patients, evaluated in a multidisciplinary approach, this technique allowed us to avoid major surgical procedures that would modify the anatomy of the velopharyngeal port. However, prospective comparative studies or randomised controlled trials could be useful to compare fat grafting with velopharyngoplasty techniques, with the aim to clarify indications and to define a specific treatment protocol.

Inguinal hernias in children occur with a prevalence ranging from 3 to 5%. The likelihood of a symptomatic patent processus vaginalis is significantly higher in preterms, as reported by most series. As a consequence, inguinal hernia represents the most common condition requiring surgical repair in the neonate and preterm baby. Surgery aims at avoiding and preventing intestinal and gonadal lesions related to incarceration. Nonetheless, hernia repair is technically demanding, with a relatively high risk of complications including recurrence and testicular atrophy. This paper will address some of most debated aspect of inguinal hernia management in preterms babies. The authors will discuss anesthesiological implications, available surgical techniques, optimal timing for surgery, and reasons for possible contralateral groin exploration. The authors will also discuss literature evidences and will propose their own behavior to provide an algorithm for the correct management of neonates and ex-preterms with inguinal hernia.