Adult-onset megacolon with focal hypoganglionosis: A detailed phenotyping and prospective cohort study.

BACKGROUND: In this prospective cohort study, we evaluated features of "adult-onset megacolon with focal hypoganglionosis." METHODS: We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology. KEY RESULTS: The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001]. CONCLUSIONS AND INFERENCES: Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.

Radiologically supervised bowel management program outcome in patients with chronic idiopathic constipation.

PURPOSE: This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC). METHODS: A retrospective study was conducted. We included all patients with CIC who participated in our RS-BMP at Children´s Hospital Colorado from July 2016 to October 2022. RESULTS: Eighty patients were included. The average time with constipation was 5.6 years. Before our RS-BMP, 95% had received non-radiologically supervised treatments, and 71% had attempted two or more treatments. Overall, 90% had tried Polyethylene Glycol and 43% Senna. Nine patients had a history of Botox injections. Five underwent anterograde continence procedure, and one a sigmoidectomy. Behavioral disorders (BD) were found in 23%. At the end of the RS-BMP, 96% of patients had successful outcomes, 73% were on Senna, and 27% were on enemas. Megarectum was detected in 93% of patients with successful outcomes and 100% with unsuccessful outcomes (p = 0.210). Of the patients with BD, 89% had successful outcomes, and 11% had unsuccessful. CONCLUSION: Our RS-BMP has been proven to be effective in treating CIC. The radiologically supervised use of Senna and enemas was the appropriate treatment in 96% of the patients. BD and megarectum were associated with unsuccessful outcomes.

Laparoscopic-Assisted Total Resection and Endorectal Pull-Through Technique for Congenital Megarectum with Anorectal Malformation.

BACKGROUND/PURPOSE: Congenital megarectum (CMR) is sometimes associated with anorectal malformations (ARM), although there is no established therapeutic strategy. This study aims to clarify the clinical features of ARM with CMR, and to demonstrate the effectiveness of a surgical treatment, namely laparoscopic-assisted total resection and endorectal pull-through technique. METHODS: We conducted a review of the clinical records of the patients with ARM with CMR treated at our institution between January 2003 and December 2020. RESULTS: Seven of 33 cases of ARM (21.2%) were diagnosed with CMR, four males and three females. The types of ARM were 'intermediate' in four, and 'low' in three patients. Five of the seven patients (71.4%) required resection of megarectum for intractable constipation and underwent laparoscopic-assisted total resection and endorectal pull-through technique. Bowel function was improved after resection in all five cases. All five specimens showed hypertrophy of the circular fibers, and three of them showed abnormal location of ganglion cells within the circular muscle fibers. CONCLUSIONS: CMR often causes intractable constipation and requires resection of the dilated rectum. Laparoscopic-assisted total resection and endorectal pull-through technique for ARM with CMR considered to be an effective, minimally invasive treatment for intractable constipation. LEVEL OF EVIDENCE FOR CLINICAL RESEARCH PAPERS: Level Ⅳ. TYPE OF STUDY: Treatment study.

Clinical features and outcomes of adult idiopathic megarectum.

OBJECTIVE: Idiopathic megarectum is characterized by abnormal, pronounced rectal dilatation in the absence of identifiable organic pathology. Idiopathic megarectum is uncommon and under-recognized. This study aims to describe the clinical features and management of idiopathic megarectum. METHODS: A retrospective review was undertaken on patients diagnosed with idiopathic megarectum with or without idiopathic megacolon over a 14-year period until 2021. Patients were identified from the hospital's International Classification of Diseases codes, and pre-existing clinic patient databases. Patient demographics, disease characteristics, healthcare utilization and treatment history data were collected. RESULTS: Eight patients with idiopathic megarectum were identified; half of the patients were female, with the median age of symptom onset being 14 years (interquartile range [IQR] 9-24). The median rectal diameter measured was 11.5 cm (IQR 9.4-12.1). The most common presenting symptom was constipation, bloating and faecal incontinence. All patients required prior sustained periods of regular phosphate enemas and 88% were using ongoing oral aperients. Concomitant anxiety and or depression were found in 63% of patients and 25% were diagnosed with an intellectual disability. Healthcare utilization was high with a median of three emergency department presentations or ward admissions related to idiopathic megarectum per patient over the follow-up period; 38% of patients required surgical intervention during the period of follow-up. CONCLUSION: Idiopathic megarectum is uncommon and associated with significant physical and psychiatric morbidity and high healthcare utilization.

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

Human disorders of the enteric nervous system (ENS), e.g., Hirschsprung's disease, are rarely associated with major central nervous system involvement. We describe two families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung's disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a-/- mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Very recently, a range of brain developmental phenotypes were described in patients and mice with KIF26A deficiency and were found to result from abnormal radial migration and increased apoptosis. Our report, therefore, reveals a recognizable autosomal-recessive human KIF26A deficiency phenotype characterized by severe ENS dysfunction and a range of brain malformations.

Per rectal endoscopic myotomy for Hirschsprung's disease and megacolon.

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.

Molecular detection and parasite load of Trypanosoma cruzi in digestive tract tissue of Chagas disease patients affected by megacolon.

Chagas disease, caused by the Trypanosoma cruzi parasite in the Americas affects ∼ 7 million people, 30% with cardiac tissue damage and 10-15% with digestive disorders. In this study, we have developed a protocol to detect the presence of the parasite and estimate its load in resected dysfunctional tissue segments of chronically infected patients with digestive megacolon. We have included samples from 43 individuals, 38/5 with positive/negative serology for Chagas disease and digestive syndromes. Samples of 1.5 to 2.0 cm2 were taken from different points of the dysfunctional digestive tract in specialized centres in Cochabamba, Bolivia. T. cruzi cultures were performed by inoculation with NNN-LIT culture medium, and genomic material was obtained from the samples for multiplex qPCR with TaqMan probes targeting satellite nuclear DNA. Cultures failed to isolate T. cruzi but qPCR reached a sensitivity of 42.1% (16/38) with all three spots and in triplicate. A new quantification methodology using synthetic satellite DNA as quantitation standard revealed parasite loads ranging from 2.2 × 102 to 1.0 × 106 satellite DNA copies/µl. Positive samples from the distal end showed a higher parasite load. The results of the present study strengthen and add further evidence to previous findings in an experimental mouse model of chronic T. cruzi infection, providing a valuable tool to improve scientific knowledge on the relevance of the digestive tract in parasite persistence, and underline the need of a better understanding of host-pathogen interaction in digestive tissues, considering pathophysiology, disease immunology and response to treatment.

Abordagem cirúrgica de megaceco secundário a tumor de cólon descendente / Surgical approach of megacecum secondary to descending colon tumor

RESUMO: Obstrução intestinal é a manifestação clínica mais frequente de tumores de cólon sendo esses, em sua maioria, localizados no cólon descendente e reto-sigmoide. A cirurgia de emergência para obstrução intestinal é associada a altos riscos de mortalidade e de morbidade e a abordagem ideal permanece controversa. Procedimentos em vários estágios e o uso de stents como ponte para cirurgia são opções promissoras. É apresentado um caso de paciente de 61 anos, com abdome agudo obstrutivo secundário à neoplasia colorretal, com ênfase em seu diagnóstico e tratamento. (AU)

ABSTRACT: Intestinal obstruction is the most frequent clinical manifestation of colon tumors, most of which are located in the descending and recto-sigmoid colon. Emergency bowel obstruction surgery is associated with high mortality and morbidity risks and the ideal approach remains controversial. Multi-stage procedures and the use of stents as bridges for surgery are promising options. A case of a 61-year-old patient with an acute obstructive abdomen secondary to colorectal neoplasm is presented, with emphasis on its diagnosis and treatment. (AU)

[Etiological analysis and surgical method selection of adult megacolon].

Adult megacolon is a rare disease with heterogeneneous etiology. The treatment schemes of megacolon caused by different causes are also different, but surgery is the final and the most effective method. Due to the lack of early understanding of the disease, many patients have not been clearly diagnosed as adult megacolon and have not been properly treated. This article classifies adult megacolon according to the etiology and summarizes its surgical options. For adult Hirschsprung's disease, modified Duhamel, the Jinling procedure, low anterior resection, or pull-through low anterior resection can be used. For patients with idiopathic megacolon, one-stage subtotal colorectal resection can be selected with adequate preoperative preparations. Some patients admitted to the hospital with emergency intestinal obstruction can be treated with conservative treatment or decompression under colonoscopy followed by selective surgery. For patients with aganglionosis, the procedure is subtotal colorectal resection, the same as that of idiopathic megacolon. The procedure is to remove both the dilated proximal intestine and the stenotic distal intestine, then an ileorectal anastomosis or ascending colon rectal anastomosis is performed. For toxic megacolon, colostomy can be done for mild cases, and for severe infections, subtotal colorectal resection is required. Latrogenic megacolon is mostly caused by segmental stenosis or lack of peristalsis, resulting in chronic dilatation of the proximal end and the formation of megacolon. It is necessary to choose a reasonable surgical procedure according to the specific conditions of the patient. The first choice for the treatment of acute colonic pseudo-obstruction syndrome is decompression under colonoscopy. For those with the secondary changes in the intestine, ostomy is still the most effective surgical procedure, but should be performed with caution.

Megaesôfago e megacólon na doença de Chagas: classificação de casos e possibilidades de atuação da atenção primária à saúde / Megaesophagus and megacolon in Chagas disease: classification of cases and possibilities of action in primary health care

Objetivos: classificar pacientes chagásicos com a forma digestiva da doença associando com variáveis demográficas, clínicas e de utilização de serviços de saúde, além de analisar as possibilidades de atuação da Atenção Primária à Saúde (APS) no manejo e acompanhamento dos casos. Casuística e métodos: estudo transversal com base em dados secundários provenientes de prontuários. Foram utilizadas as classificações do megaesôfago e do megacólon propostas por Rezende (1982) e Silva (2013), respectivamente. Resultados: Foram analisados 156 prontuários, sendo 94 (60,2%) relativos a megaesôfagos, 29 (18,6%) a megacólons e 29 (18,6%) a ambas as formas clínicas. O maior número de internações (p=0,02; OR=3,71) e de dias internados (p<0,01; OR=3,30) foi associado aos pacientes classificados nos grupos III e IV de megaesôfago. Em relação ao sexo masculino (p=0,02), o maior número de internações (p<0,0001) e de dias internados (p<0,0001) foi associado aos pacientes classificados no grau III de megacólon. Conclusões: Concluiu-se que a APS possui papel importante na diminuição da sobrecarga dos serviços de média e alta complexidade com o acompanhamento dos casos estáveis e menos graves e que a melhoria da qualidade de vida dos pacientes chagásicos é um efeito direto que pode ser esperado do protagonismo da APS neste cuidado.

Objectives: To classify chagasic patients with the digestive form of the disease, associating with demographic, clinical, and use of health services variables, in addition to analyzing the possibilities of Primary Health Care (PHC) acting in the management and follow-up of cases. Casuistry and Methods: A cross-sectional study based on secondary data from medical records was conducted. We used the classification of megaesophagus and megacolon proposed by Rezende (1982) and Silva (2013), respectively. Results: 156 medical records were analyzed: 94 (60.2%) related to megaesophagus, 29 (18.6%) to megacolon, and 29 (18.6%) with both clinical forms. The highest number of hospitalizations (p=0.02; OR=3.71) and days hospitalized (p<0.01; OR=3.30) were associated with patients classified in groups III and IV with megaesophagus. Male gender (p=0.02), more hospitalizations (p=0.0001), and more days in the hospital (p=0.0001) were all linked to patients classified as having gradeIII megacolon. Conclusions: We concluded that PHC has an important role in reducing the burden of medium and high-complexity services with the monitoring of stable and less severe cases. It also demonstrated the direct effect of PHC protagonism on the improvement of chagasic patients' quality of life.

Evaluation of outcomes following subtotal colectomy for the treatment of idiopathic megacolon in cats.

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.

Idiopathic megacolon and megarectum in an adult treated with laparoscopic modified Duhamel procedure.

Idiopathic megacolon (IMC) and idiopathic megarectum (IMR) describe an abnormality of the colon or rectum, characterised by a permanent dilatation of the bowel diameter in the absence of an identifiable cause. We present a 23-year-old woman with chronic constipation and excessive straining during defecation who presented at the emergency department in partial gut obstruction with a palpable fecaloma. Manual faecal disimpaction and a sigmoid loop colostomy was initially done. A full thickness rectal biopsy was positive for ganglion cells. Further workup led to the diagnosis of chronic IMC and IMR. The patient underwent laparoscopic modified Duhamel procedure, with an uneventful postoperative course.

The "misfortune" of being a COVID-19 negative patient during the coronavirus pandemic.

COVID-19 pandemic has obviously affected patients' behavior towards seeking medical help as well as physicians' decision in the management of emergencies. Our recent experience as surgeons at a COVID-19 referral hospital revealed cases which share an alerting characteristic: the delay in appropriate management. Unfortunately for COVID-19 negative patients a "coronacentric" health system has been adopted. In view of measures applied to avoid spread of the disease, a significant delay in patients' presentation as well as in their in-hospital management is observed. We present cases where delay in appropriate management affected the patients' outcome and underline the fact that balancing between COVID-19 safety measures and a patient who needs urgent treatment can be very challenging and stressful.