Bridging the Gap:Reporting Baseline Characteristics, Process and Outcome Parameters in Hirschsprung's Disease. A Systematic Review

Introduction: The variation in standardized, well-defined parameters in Hirschsprung's disease (HSCR) research hinders overarching comparisons and complicates evaluations of care quality across healthcare settings. This review addresses the significant variability observed in these parameters as reported in recent publications. The goal is to compile a list of commonly described baseline characteristics, process and outcome measures, and to investigate disparities in their utilization and definitions. Materials and Methods: A systematic review of literature on the primary care process for HSCR was performed according to PRISMA guidelines. Relevant literature published between 2015 and 2021 was obtained by combining the search term Hirschsprung's disease with treatment outcome, complications, mortality, morbidity, survival in Medline, Embase and the Cochrane Library. We extracted study characteristics, reported process and outcome parameters, and patient and disease characteristics. Results: We extracted 1026 parameters from 200 publications and categorized these into patient characteristics (n=226), treatment and care process characteristics (n=199), and outcomes (n=601). 116 parameters were reported in more than 5% of publications. The most frequently reported characteristics were sex (88%), age at surgery (66%), postoperative Hirschsprung-associated enterocolitis (64%), type of repair (57%), fecal incontinence (54%), and extent of aganglionosis (51%). Conclusion: This review underscores the pronounced variation in reported parameters within HSCR studies, highlighting the necessity for consistent, well-defined measures and reporting systems in order to foster improved data interpretability. Moreover, it advocates for the use of these findings in the development of a Core Indicator Set, complementing the recently developed Core Outcome Set. This will facilitate quality assessments across pediatric surgical centers throughout Europe.</p

Hirschsprung’s Disease Scientific Update : Sultan Qaboos University Hospital

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ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Background Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.Peer reviewe

ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

Background Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.Peer reviewe

Hirschsprung´s Disease &amp; Gastroesophageal Reflux. Aspects on Two Gastrointestinal Motility Disorders in Childhood

Gastrointestinal motility disorders are common in childhood and in this thesis we look at two of them, i.e. Hirschsprung´s Disease (HD) and gastroesophageal reflux disease (GERD) in five different studies. HD is a congenital disease characterized by an abscence of ganglion cells in myenteric and submucous ganglia, most commonly in the distal part of the large bowel. In Paper I, we have studied the CART peptide (cocaine-and amphetamine regulated transcript), in human bowel prepararions and were able to show for the first time that the CART peptide is localized in normal human bowel. It is primarily expressed in the myenteric ganglia with high colocalization with the neurotransmitters VIP (vasoactive intestinal peptide) and NO (nitric oxide) indicating a functional role in the intestinal wall. CART-IR (immunoreactive) neurons were not found in the aganglionic part of the bowel indicating an intrinsic origin of the peptide. In Paper II the quality of life (QoL) of adults operated on for HD in their childhood was studied. For that, two validated questionnaires were used, SF-36 health survey and GIQLI (gastrointestinal quality of life index). We found that the adults operated on for HD in childhood, had generally normal QoL. The women, however, had worse general and mental health when compared to the normal population. It was also noted that the longer the aganglionic segment was, the more affected the QoL of the patient. In Paper III we compared the outcome, after two year follow-up, of the Duhamel pull-through operation for rectosigmoid HD and the TERPT (transanal endorectal pull-through) method which we introduced in 2005 in Lund. The study showed that patients operated on with the TERPT-method recovered significantly faster and required fewer interventions during follow-up time, without compromising the functional results. Also the cosmetic results were far better for TERPT group. Our result support the use of the TERPT method in favor of the Duhamel pull-through for rectosigmoid HD. PH-monitoring is valuable in the diagnosis of GERD and the gold standard has been catheter-based monitoring. In Paper IV-V we have shown that a wireless esophageal pH-monitoring system is feasible for use and well-tolerated by children, and is to be recommended. Our result found no clear advantage of esophageal pH-monitoring for 48 hours compared to 24 hours in the diagnosis of GERD in children. It was also shown that it is the combination of symptoms, endoscopic findings, pH-monitoring results and pathological examination that gives the most reliable diagnosis of GERD in children

Case Report: SECONDARY LAPAROSCOPIC ASSISSTED TRANSANAL ENDORECTAL PULL-THROUGH. A PRE-ELIMINARY STUDY

The definitive treatment for Hirschsprung’s disease is pullthrough procedure, that can be done through conventional pullthrough approach or through minimal invasive approach. The benefit of minimal invasive technique compared to conventinal open procedure is shorter time to oral intake, shorter length of stay, and less postoperative pain. Secondary LATEP is a minimal invasive pull through technique in patients with preexisting colostomy. Primary pullthrough sometimes cannot be done because limitation of health facilities, uneven distribution of pediatric surgeons throughout the country and late diagnosis of Hirschsprung’s Disease. In dr Soetomo Hospital Surabaya, 7 secondary LATEP procedures were done in January to August 2014. The age range was 6 months to 8 years old. All patients survived, 1 patient had stenosis of anastomotic site 2 weeks postoperative, 3 had enterocolitis, 3 with no complication. Secondary LATEP is a minimal invasive approach for Hirschsprung’s Disease that can be adjusted with Indonesia’s social and economic condition, where most population was distant from an adequate health facility. As there is high incidence of malnutrition, enterocolitis and also the distance from appropriate health services, stoma formation is the first thing that can be done before definitive treatment.Secondary LATEP has never been done in Indonesia, and we still need more data and research to evaluate the benefit and disadvantage of this approach compared to conventional or minimal invasive primary pull through. In conclusion, secondary LATEP is an appropriate pullthrough alternative for Hirschsprung’s Disease and applicable in Indonesia, considering the social and economy condition. Further study must be done to develop this method

Single-stage laparoscopic transanal pull-through modified Swenson procedure without leaving a muscular cuff for short- and long-type Hirschsprung disease: a comparative study

Purpose: The Soave procedure (SO) is performed most commonly for Hirschsprung disease. SO reduces the risk of injury to the pelvic structures; however, a residual aganglionic muscle cuff could interfere with bowel movement and lead to obstructive enterocolitis. The Swenson procedure is considered ideal in terms of peristalsis. Currently, laparoscopic surgery provides better visualization and facilitates precise dissection, possibly leading to feasible performance of the laparoscopic modified Swenson procedure (SW). We present our operative technique and the efficacy of the SW compared with that of SO. Methods: We retrospectively reviewed the records of 16 and 27 patients who underwent SW and SO, respectively, between 2012 and 2017. Results: Operative time, blood loss, length of stay, and frequency of bowel movements showed no significant difference between the two groups. In the SW group, temporary dysuria occurred in one patient, postoperative enterocolitis in two, wound infection in one, and severe perianal excoriation in four, whereas in the SO group, obstructive symptoms occurred in three patients, small-bowel obstruction in one, and severe perianal excoriation in three. The complications and outcomes were comparable between both groups. Conclusion: Laparoscopic SW was safe and feasible for the short-term follow-up outcomes.ファイル公開：2019/10/01journal articl

Диагностика и лечение болезни Гиршпрунга у детей на современном этапе

ПИЩЕВАРИТЕЛЬНОЙ СИСТЕМЫ АНОМАЛИИГИРШСПРУНГА БОЛЕЗНЬ /ДИАГН /ТЕР /ХИР /ЭТИОЛАГАНГЛИОЗ /ДИАГН /ТЕР /ХИР /ЭТИОЛЭНТЕРОКОЛИТХИРУРГИЧЕСКИЕ ОПЕРАЦИИ МАЛОИНВАЗИВНЫЕТРАНСАНАЛЬНОЕ ЭНДОРЕКТАЛЬНОЕ НИЗВЕДЕНИЕПОСЛЕОПЕРАЦИОННЫЕ ОСЛОЖНЕНИЯДЕТИОБЗОР ЛИТЕРАТУРЫВ обзоре проведен анализ литературы, отражающей современные взгляды на болезнь Гиршпрунга у детей, а также современные методы диагностики и лечения заболевания. Болезнь Гиршпрунга – достаточно частое заболевание в детской хирургии. Изучение литературы показало, что если вопросы патогенеза заболевания уже не считаются спорными, то внедрение новых методик обследования и хирургического лечения по-прежнему остается сложным и неоднозначным. Применение тех или иных методов диагностики и лечения определяется в основном возможностями и предпочтениями лечебных учреждений. В то же время функциональные результаты оперативного лечения оставляют желать лучшего. Причинами этого являются отсутствие четко определенных сроков проведения хирургической коррекции порока, а также нерешенные вопросы выбора метода оперативного лечения, подходящего для каждого конкретного ребенка. Анализ литературных данных показал возможность решения этих проблем путем выработки рациональной программы обследования с учетом всех имеющихся осложнений и определения соответствующей тактики лечения. Радикальное одноэтапное оперативное лечение болезни Гиршпрунга с использованием миниинвазивных методов приобретает все большее распространение. Современные хирургические методы лечения болезни Гиршпрунга у новорожденных и детей раннего возраста позволяют снизить смертность и улучшить результаты.The paper reviews recent studies that evaluate the present-day concept concerning Hirschsprung’s disease in children as well as current diagnostic and treatment methods of this pathology. Hirschsprung’s disease is a relatively common disease in the pediatric surgery. The literature analysis has shown that if the pathogenesis of the disease is no longer considered controversial entity, the application of new methods of examination and surgical treatment still remains complex and ambiguous. The use of one or another method of diagnosis and treatment is thought to be determined mainly by the possibilities and preferences of medical establishment. At the same time, the functional results of surgical treatment leave much to be desired due to the absence of clearly defined terms for surgical correction of the defect, as well as the unresolved issues of choice of operative treatment method appropriated for each specific child. The analysis of the literature data has shown the possibility of solving these problems by developing a rational program of examination, taking into account all existing complications and determining the appropriate treatment tactics. Radical one-stage surgical treatment of Hirschsprung’s disease with the use of minimally invasive methods is becoming more widespread. Current surgical methods for treating Hirschsprung’s disease in infant and young children are essential in reducing morbidity and mortality associated with this disease

One stage transanal full thickness pull-through operation for rectosigmoid Hirschsprung's disease

The surgical management of Hirschsprung's disease (HD) has changed from the original staged operations to the latest introduced minimally invasive one stage techniques. One stage transanal full thickness Swenson-like procedure is a new concept of single stage procedure for HD. We reviewed the early outcome of one stage transanal Swenson-like pull-through operation for rectosigmoid HD. By using the transanal concept we choose to apply Swenson's principle in transanal dissection for the primary treatment of HD and describe technical aspects and impact on fecal and urinary function. We reviewed our series of HD patient who underwent one-stage transanal full thickness, Swenson-like rectosigmoid dissection, assessing for postoperative stricture or stenosis, anastomotic leak, enterocolitis, obstruction and long-term results for bowel and urinary function. Of 15 patients all had the transanal resection, the age of the patients ranged from 6 months to 5 years. The average length of resection was 20 ± 5 cm. Mean follow-up was 24 months. 10 patients were at least three years old at follow-up and were assessed for urinary and fecal continence. All had the voluntary bowel movement and urinary continence. Three patients had episodes of postoperative enterocolitis and two patients developed stenosis at the anastomotic site. Postoperative frequent bowel movement was present in all patients and continued for 2-8 weeks. In conclusion, our data support the fact that a modification of Swenson's original transabdominal dissection concept using the recently describe transanal approach is an excellent technique for HD and produces excellent long-term outcome for fecal and urinary function.