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European Journal of Pediatric Surgery :... Oct 2022Hirschsprung disease (HSCR) is a congenital disease that is characterized by the absence of intrinsic ganglion cells in the submucosal and myenteric plexuses of the... (Review)
Review
Hirschsprung disease (HSCR) is a congenital disease that is characterized by the absence of intrinsic ganglion cells in the submucosal and myenteric plexuses of the distal colon and is the most common cause of congenital intestinal obstruction. Hirschsprung-associated enterocolitis (HAEC) is a life-threatening complication of HSCR, which can occur either before or after surgical resection of the aganglionic bowel. Even though HAEC is a leading cause of death in HSCR patients, its etiology and pathophysiology remain poorly understood. Various factors have been associated with HAEC, including the mucus barrier, microbiota, immune function, obstruction of the colon, and genetic variations. In this review, we examine our current mouse model of HAEC and how it informs our understanding of the disease. We also describe current emerging research that highlights the potential future of HAEC treatment.
Topics: Animals; Disease Models, Animal; Enterocolitis; Hirschsprung Disease; Intestines; Mice
PubMed: 35649434
DOI: 10.1055/s-0042-1745780 -
Journal of Pediatric Surgery Aug 2023Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality amongst patients with Hirschsprung disease (HD); rectal Botulinum toxin... (Review)
Review
BACKGROUND
Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality amongst patients with Hirschsprung disease (HD); rectal Botulinum toxin (Botox) has been reported a possible prevention strategy. We aimed to evaluate our institution's historic cohort of HD patients, first to determine our incidence of HAEC and second to begin assessing the effect of Botox on HAEC incidence.
METHODS
Patients with HD seen at our institution between 2005 and 2019 were reviewed. Incidence of HD and frequencies of HAEC and Botox injections were tallied. Associations between initial Botox treatment or transition zone and HAEC incidence were evaluated.
RESULTS
We reviewed 221 patients; 200 were included for analysis. One hundred thirteen (56.5%) patients underwent primary pull-through at a median age of 24 days (IQR 91). Eighty-seven (43.5%) patients with initial ostomy had their intestinal continuity reestablished at a median of 318 days (IQR 595). Ninety-four (49.5%) experienced at least one episode of HAEC and 62 (66%) experienced multiple episodes of HAEC. Nineteen (9.6%) patients had total colonic HD and had an increased total incidence of HAEC compared to patients without total colonic HD (89% vs 44%, p < 0.001). Six (2.9%) patients received Botox injections at the time of pull-through or ostomy takedown; one experienced an episode of HAEC (versus 50.7% of the patients who were confirmed to have not received Botox injections at their surgery, p = 0.102).
CONCLUSION
Further prospective study on Botox's effect on Hirschsprung-associated enterocolitis is required and is the next step in our investigation.
LEVEL OF EVIDENCE
Level III.
Topics: Humans; Infant; Retrospective Studies; Prospective Studies; Botulinum Toxins, Type A; Hirschsprung Disease; Enterocolitis; Rectum; Postoperative Complications
PubMed: 37221126
DOI: 10.1016/j.jpedsurg.2023.04.008 -
Seminars in Pediatric Surgery Apr 2022Hirschsprung-associated enterocolitis (HAEC) was described in 1886 by Harald Hirschsprung and is a potentially deadly complication of Hirschsprung Disease. HAEC is... (Review)
Review
Hirschsprung-associated enterocolitis (HAEC) was described in 1886 by Harald Hirschsprung and is a potentially deadly complication of Hirschsprung Disease. HAEC is classically characterized by abdominal distension, fever, and diarrhea, although there can be a variety of other associated symptoms, including colicky abdominal pain, lethargy, and the passage of blood-stained stools. HAEC occurs both pre-operatively and post-operatively, is the presenting symptom of HSCR in up to 25% of infants and varies in overall incidence from 20 to 60%. This article reviews our current understanding of HAEC pathogenesis, diagnosis, and treatment with discussion of areas of ongoing research, controversy, and future investigation.
Topics: Enterocolitis; Hirschsprung Disease; Humans; Infant
PubMed: 35690459
DOI: 10.1016/j.sempedsurg.2022.151162 -
Journal of the American Veterinary... Nov 2021To evaluate outcomes in cats undergoing subtotal colectomy for the treatment of idiopathic megacolon and to determine whether removal versus nonremoval of the...
OBJECTIVE
To evaluate outcomes in cats undergoing subtotal colectomy for the treatment of idiopathic megacolon and to determine whether removal versus nonremoval of the ileocecocolic junction (ICJ) was associated with differences in outcome.
ANIMALS
166 client-owned cats.
PROCEDURES
For this retrospective cohort study, medical records databases of 18 participating veterinary hospitals were searched to identify records of cats with idiopathic megacolon treated by subtotal colectomy from January 2000 to December 2018. Data collection included perioperative and surgical variables, complications, outcome, and owner perception of the procedure. Data were analyzed for associations with outcomes of interest, and Kaplan-Meier survival time analysis was performed.
RESULTS
Major perioperative complications occurred in 9.9% (15/151) of cats, and 14% (12/87) of cats died as a direct result of treatment or complications of megacolon. The median survival time was not reached. Cats with (vs without) a body condition score < 4/9 (hazard ratio [HR], 5.97), preexisting heart disease (HR, 3.21), major perioperative complications (HR, 27.8), or long-term postoperative liquid feces (HR, 10.4) had greater hazard of shorter survival time. Constipation recurrence occurred in 32% (24/74) of cats at a median time of 344 days and was not associated with retention versus removal of the ICJ; however, ICJ removal was associated with long-term liquid feces (OR, 3.45), and a fair or poor outcome on owner assessment (OR, 3.6).
CONCLUSIONS AND CLINICAL RELEVANCE
Results indicated that subtotal colectomy was associated with long survival times and a high rate of owner satisfaction. Removal of the ICJ was associated with less favorable outcomes in cats of the present study.
Topics: Animals; Cat Diseases; Cats; Colectomy; Constipation; Humans; Megacolon; Retrospective Studies; Treatment Outcome
PubMed: 34727062
DOI: 10.2460/javma.20.07.0418 -
Minerva Gastroenterology Jun 2023Hirschsprung's disease (HD) is a congenital disorder characterized by absence of intrinsic ganglion cells of the hindgut. It commonly presents in infancy with refractory... (Review)
Review
Hirschsprung's disease (HD) is a congenital disorder characterized by absence of intrinsic ganglion cells of the hindgut. It commonly presents in infancy with refractory constipation and failure to thrive. Short segment HD affecting the rectosigmoid region is the commonest variant. Although surgical or laparoscopic single or multi-stage pull-through procedures have been the gold standard for more than six decades, these procedures are associated with significant morbidity, recurrence, and often multi-stage procedures. Per-rectal endoscopic myotomy (PREM) is a recently described novel minimally invasive procedure based on the principles of third space endoscopy. It is based on the principle to open spastic aganglionic bowel segments by performing a myotomy through a submucosal tunnel. This review describes the patient selection and preparation and technique of PREM and discusses the status of PREM for treatment of HD.
Topics: Humans; Hirschsprung Disease; Megacolon; Rectum; Laparoscopy; Myotomy
PubMed: 35343667
DOI: 10.23736/S2724-5985.22.03166-7 -
Surgery Today Feb 2021Hirschsprung's disease (HD) is a congenital disease manifesting various degrees of functional bowel obstruction caused by the absence of enteric ganglion cells, which... (Review)
Review
Hirschsprung's disease (HD) is a congenital disease manifesting various degrees of functional bowel obstruction caused by the absence of enteric ganglion cells, which are usually absent in the colonic segment of the HD patient. Because the aganglionic segment of HD always includes the rectum, pathological diagnosis can be made using a rectal sample. HD should be diagnosed as early as possible because serious complications, such as acute enterocolitis or toxic megacolon, can develop without a definitive diagnosis and appropriate treatment. In the mid-1900s, HD was diagnosed by HE staining of specimens obtained by full-thickness biopsy. Since then, the combination of rectal mucosal biopsy and rubeanic acid-amplificated AChE staining has been brought about by the following milestones: the discovery that the submucosal plexus and the intermuscular plexus had the same level of nerve migration; the findings of research on acetylcholine (ACh) and acetylcholinesterase (AChE) in the intestinal tract; and the establishment of a rubeanic acid amplification method. Consequently, the diagnostic rate of HD improved dramatically in the 1980s. This review outlines the history of diagnostic methods for HD, the roles of ACh and AChE in the intestine, and the method of AChE staining.
Topics: Acetylcholinesterase; Biomarkers; Biopsy; Hirschsprung Disease; Humans; Infant, Newborn; Intestinal Mucosa; Rectum; Staining and Labeling; Thioamides
PubMed: 32577882
DOI: 10.1007/s00595-020-02055-x -
Seminars in Pediatric Surgery Apr 2022Hirschsprung's disease (HD) is one of the most common causes of pediatric bowel obstruction in low- and middle-income countries (LMICs). This paper describes the unique...
Hirschsprung's disease (HD) is one of the most common causes of pediatric bowel obstruction in low- and middle-income countries (LMICs). This paper describes the unique aspects of presentation, diagnosis, management and post-operative care and outcomes of HD in LMICs. In LMICs, patients with HD are much more likely to present in a delayed fashion with subsequent increased morbidity and mortality including higher rates of chronic obstruction, malnutrition with failure to thrive, complete obstruction and perforation. There are multifactorial causes for delay, with opportunities to improve initial timely diagnosis and referral, support families to address socioeconomic and cultural barriers, and improve workforce and infrastructure resources to provide definitive care. In LMICs, the diagnosis is often made based on clinical presentation and radiographic findings as pathological services may be limited. Initial diversion with multi-stage procedure, instead of a single-stage pull-through, predominates. This is also a result of multifactorial causes, including initial presentation to general surgeons at first-level hospitals instead of pediatric surgeons, delayed presentation with sick, malnourished children with significantly distended bowel, and a lack of fresh-frozen pathological services to guide the extent of resection. Post-operatively, HD patients in LMICs experience higher complication and mortality rates - likely stemming from sicker baseline presentations and more limited resources. Significant recent advances in care have occurred for patients with HD in LMICs, while opportunities to continue to improve care remain.
Topics: Child; Developing Countries; Hirschsprung Disease; Humans; Surgeons
PubMed: 35690460
DOI: 10.1016/j.sempedsurg.2022.151163 -
Seminars in Pediatric Surgery Dec 2020During this early part of the 21st century online technology has prompted many major advances in medical care. In this section we argue that this is particularly evident... (Review)
Review
During this early part of the 21st century online technology has prompted many major advances in medical care. In this section we argue that this is particularly evident in the treatment and care of patients born with Anorectal Malformation (ARM) and Hirschsprung's Disease (HD). Our stories show that anyone born with these complex colorectal conditions in the 20th century was destined to a life of isolation and stigma. Here we explore the lack of understanding and recognition of the psychological effects on children and families which has characterised this period. We show that advances in clinical practice has been supported by developing social media platforms. There has been a rapid creation of online support groups for patients and families which has enabled survivors' greater access to patient and parent organizations across the globe and thereby stimulated a sense of belonging and solidarity. Online technology and social media platforms have also opened up the opportunity for pediatric medical professionals to provide a greater level of patient education. There is no doubt families have become much more aware of the complexities of ARM & HD and achieved greater comfort and understanding of their needs. We have generated "lightbulb moments" for pediatric providers with adult ARM & HD patients, enabling them to share their lived experiences in a therapeutic exchange. In the past survivors felt they were abandoned by the adult healthcare system. We are seeing evidence-based research of major psychosocial issues experienced by adult patients and, as a result, improved understanding of how to treat ARM & HD survivors across their whole of life journey. The winds of change continue to direct our cohorts to a mature approach based on improving levels of interactive communication and education. We argue that this maturity has mostly been facilitated by the use of online technology and the ensuing collaboration between providers and patient and parent organizations.
Topics: Abnormalities, Multiple; Anorectal Malformations; Combined Modality Therapy; Continuity of Patient Care; Family; Health Services Accessibility; Hirschsprung Disease; Humans; Patient Education as Topic; Professional-Family Relations; Professional-Patient Relations; Social Media; Social Support
PubMed: 33288139
DOI: 10.1016/j.sempedsurg.2020.150990 -
The American Surgeon Dec 2019Dr. Orvar Swenson is best remembered for developing the , a technique he developed to treat Hirschsprung's disease. After graduating from Harvard Medical School and...
Dr. Orvar Swenson is best remembered for developing the , a technique he developed to treat Hirschsprung's disease. After graduating from Harvard Medical School and beginning his residency at Peter Bent Brigham Hospital, Dr. Swenson observed that patients with Hirschsprung's disease and toxic megacolon resumed normal bowel function after placement of transverse colostomies. His observation led to studying the patency of his patients' colons using barium enema contrast studies. At the collapsed portion of the colon, he performed rectal biopsies leading to the discovery that the cause of Hirschsprung's disease is that the collapsed portion of the colon lacks the Auerbach plexus. The removes this aganglionic portion of the colon and cures the patient. His career grew from there as he traveled to academic institutions teaching his technique. He is remembered fondly for his contributions to pediatric surgery through the restructuring of pediatric surgery departments, pediatric surgery research, and writing and editing multiple volumes of , the standard textbook for pediatric surgeons. He died peacefully in 2012 at the age of 103 years.
Topics: Child; Colectomy; Colon; Hirschsprung Disease; History, 20th Century; Humans; Myenteric Plexus; Specialties, Surgical; United States
PubMed: 31912779
DOI: No ID Found -
Seminars in Pediatric Surgery Apr 2022
Topics: Hirschsprung Disease; Humans
PubMed: 35690469
DOI: 10.1016/j.sempedsurg.2022.151156