Rectal Suction Biopsy Research Articles

Elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis and rare mutations.

The triple combination of elexacaftor/tezacaftor/ivacaftor (ETI) has dramatically improved the outcome of people with Cystic Fibrosis (pwCF) with at least one F508del mutation. However, carriers of rare cystic fibrosis transmembrane conductance regulator (CFTR) variants are not candidates for this innovative treatment. In this observational study, we report the results of the compassionate use of ETI in 10 pwCF carriers of rare mutations after 2 months of treatment. Rectal organoids and short-term cultures of nasal epithelium obtained from rectal suction biopsies and nasal brushing were obtained from four subjects. After 2 months of ETI, all patients (4 males, mean age 30.1 ± 13.3 years) showed a significant increase of FEV1% predicted values [+8.0 (3.5-12.7) %, p < 0.010], body mass index [+0.85 (0-1.22) kg/m2, p < 0.020] and cystic fibrosis questionnaire-revised [+19.5 (6.3-29.2) points, p < 0.009]. A significant decrease of sweat chloride concentration [-11.2 (-1.7 to -34.0) mmol/L, p < 0.020] and exacerbations [-1.5 (-2 to -1), p < 0.008] was also recorded. Overall, 7 out of 10 participants were considered full responders. All patients reported cough disappearance (n = 3) or reduction (n = 7). Long-term oxygen was discontinued in two out of three patients and one also stopped noninvasive ventilation and was removed from the lung transplantation waiting list. Despite the limited number of cases, our results support the use of CFTR modulators in patients with rare CFTR variants that are not currently approved for ETI in Europe.

The Diagnostic Pathway of Hirschsprung's Disease in Paediatric Patients: A Single-Centre Experience.

The presenting symptoms of patients with Hirschsprung's disease (HD) are a failure to pass meconium, abdominal distension, and bilious vomiting. The gold standard diagnosis is a rectal biopsy to confirm aganglionosis. The aim of our study was to describe the diagnostic pathway of Hirschsprung's disease at our institution and document the indication for a rectal biopsy. We have performed a prospective collection of all patients who underwent a rectal biopsy to exclude HD from December 2022 until September 2023 including. The following data were collected: patient's age, presenting symptoms, type of biopsy, failure rate, complications, and histopathological results. We identified 33 patients who underwent 34 rectal biopsies at 0.6 years of age. A total of 17 patients had a rectal suction biopsy (RSB), and 17 patients underwent a partial thickness under general anaesthesia (GA). 1/17 (6%) patients had an inconclusive RSB and subsequently underwent a biopsy under GA. Constipation and chronic abdominal distension plus vomiting were the most common presenting symptoms throughout all ages. Five patients (15%) had a rectal biopsy that was positive for HD. A protocolised approach to the assessment of infants and children with suspected HD ensures the appropriate utilisation of invasive procedures such as biopsy.

Can the diameter of nerve fibers be effectively utilized to enhance the accuracy of determining the length of the aganglionic segment compared to intraoperative biopsy in patients with Hirschsprung’s disease?

ObjectiveThe aim of this study is to investigate the accuracy of utilizing neural fiber trunk diameter in accurately diagnosing the length of the aganglionic segment in patients definitively diagnosed with Hirschsprung’s disease.ResultsIn this study, 40 patients (19 males, 21 females; mean age 2.5 ± 2.2646 years) were assessed for Hirschsprung’s disease. Constipation was the main symptom (75%), followed by abdominal issues. All underwent contrast enema and rectal suction biopsy for diagnosis, followed by surgery (predominantly Soave and Swensen techniques). Majority (85%) had rectosigmoid involvement. Neural fiber diameter was measured, with 52.5% ≤40 μm and 47.5% >40 μm. Statistical analysis showed 40% sensitivity(CI:95%) and 47% specificity(CI:95%) with a cutoff of 40.5 μm. Cohen’s kappa index for aganglionic segment size was 0.7.

Enough is enough: how many rectal suction biopsies do you need to diagnose Hirschsprung’s disease?

PurposeRectal suction biopsy (RSB) is the gold standard for diagnosing Hirschsprung’s disease (HD) in infants. Despite being a common procedure, no standard exists on the number of biopsy specimens and their respective level within the rectum.MethodsWe conducted a retrospective review of epidemiological and pathological data of patients who underwent RSB at our institution between January 2011 and May 2022. During RSB we obtain 4 specimens: at 1 cm, 3 cm and 5 cm above the dentate line, besides one specimen at the dentate line. We used a logistic regression model for statistical analysis and included control variables (e.g. underlying disease, weight at first biopsy, gestational age).ResultsA total of 92 patients underwent 115 biopsies, with an average of 3.77 specimens per session. Of the specimens taken at 1 cm above the dentate line 73.9% were conclusive, at 3 cm 75.9% and at 5 cm 79.2%. Specimens taken at the dentate line were squamous or transitional epithelia in 31.5% and therefore of no use for HD diagnostics. The specimen at 3 cm shows the highest discriminative power whether the biopsy session was diagnostic (p-value < 1%).ConclusionsWe propose that a total of three specimens, namely one at 1 cm, one at 3 cm and one at 5 cm above the dentate line, is enough to diagnose or exclude HD.

Investigations, management and outcome of neonates presenting with distal intestinal obstruction: challenging the need for contrast enemas

PurposeTo characterise the investigations, management and ultimate diagnosis of neonates with distal intestinal obstruction.MethodsRetrospective review of term (> 37 weeks) neonates with admission diagnosis of distal intestinal obstruction over 10 years (2012–2022). Patient pathways were identified and associations between presentations, response to treatments and outcome investigated.ResultsA total of 124 neonates were identified and all included. Initial management was colonic irrigation in 108, contrast enema in 4, and laparotomy in 12. Of those responding to irrigations none underwent contrast enema. Ultimately, 22 neonates proceeded to laparotomy. Overall, 106 had a suction rectal biopsy and 41 had genetic testing for cystic fibrosis. Final diagnosis was Hirschsprung disease (HD) in 67, meconium ileus with cystic fibrosis (CF) in 9, meconium plug syndrome in 19 (including 3 with CF), intestinal atresia in 10 and no formal diagnosis in 17. Median length of neonatal unit stay was 11 days (7–19).ConclusionsInitial management of neonates with distal bowel obstruction should be colonic irrigation since this is therapeutic in the majority and significantly reduces the need for contrast enema. These infants should all have suction rectal biopsy to investigate for HD unless another diagnosis is evident. If a meconium plug is passed, testing for CF is recommended. Evaluation and therapy are multimodal and time consuming, placing burden on resources and families.

Enough Is Enough – How Many Rectal Suction Biopsies Do You Need to Diagnose Hirschsprung’s Disease?

Abstract Background Rectal suction biopsy (RSB) is the gold-standard for diagnosing Hirschsprung’s disease (HD) in infants. However, despite this being a common procedure no standard exists on how many biopsy specimens and at which level they should be taken. Aims The aim of this study is to determine the conclusiveness of RSB specimens in relation to their location within the rectum in diagnosing HD. With this, we would like to define how many specimens are necessary to diagnose HD and eventually propose a standardized protocol to conduct RSB. Methods We reviewed the epidemiological data and pathology results of 92 patients undergoing RSB between January 2011 and May 2022 at our institution. We perform RSB by taking 4 specimens at 1 cm, 3 cm and 5 cm above the dentate line, as well as one specimen at the dentate line. Results We included 92 patients who had 115 biopsies performed with a mean of 3.77 specimens per session. Of the specimens taken at 1 cm above the dentate line 73.9% were conclusive, at 3 cm 75.9% and at 5 cm 79.2%. Specimens taken at the dentate line were squamous or transitional epithelia in 31.5% and therefore of no use for HD diagnostics. If the specimen at 3 cm was conclusive, the whole session was more likely to be diagnostic. Conclusion We propose that taking a total of three specimens, namely one at 1 cm, one at 3 cm and further biopsy at 3 or 5 cm above the dentate line, is enough to diagnose or exclude HD.

Delayed diagnosis in Hirschsprung disease.

Diagnostic delay in Hirschsprung disease is uncommon. Different definitions have been proposed but that of a diagnosis achieved after 12months of age seems to be the most reliable and resorted to. Some authors reported a worse outcome in case of delay. Our study aims at providing the most relevant features of a series of patients who received a delayed diagnosis of Hirschsprung disease. All consecutive patients admitted to our Center with a delayed diagnosis of Hirschsprung diseases between January 2017 and July 2023 have been retrospectively enrolled. Demographic data, phenotype, genotype, surgical complications, and outcome were assessed and compared to those of literature. A number of variables were also compared to those of a series of patients admitted during the same study period without a delayed diagnosis. A total of 45 patients were included (16.4% out of a series of 346 patients with data regarding age at diagnosis). Male to female ratio was 3.1:1. Median age at diagnosis was 41months with a wide variation (range between 17months and 58years). All patients but 2 suffered from classic rectosigmoid aganglionosis. Normal meconium passage (58%) was reported in a significantly higher number of patients compared to what observed in a series without diagnostic delay (p = 0.0140). All other variables (associated anomalies, preoperative enterocolitis, complications, and functional outcome) proved not to have statistically significant differences compared to a series of patients without a diagnostic delay. The results of our study underline that a significant percentage of patients are basically missed in the neonatal period mostly due to mild symptoms. Overall outcome does not differ from that of patients without diagnostic delay. Nonetheless, we underline the importance of a throughout investigation of all patients with meconium delay/failure and that of adopting a low threshold for performing rectal suction biopsies in constipated children to avoid misdiagnosis to serve the best for our patients.

High-Resolution Anorectal Manometry as a Screening Tool for Hirschsprung's Disease: A Comprehensive Retrospective Analysis.

Hirschsprung's disease (HD) is characterized by a congenital absence of enteric ganglion cells in the intestine, posing challenges in diagnosis, particularly in pediatric patients. The gold standard, rectal suction biopsy (RSB), carries risks, prompting an exploration of non-invasive alternatives such as high-resolution anorectal manometry (HR-ARM) for HD screening. We conducted a retrospective analysis of 136 patients suspected of HD between 2018 and 2022, which were stratified into three age groups: ≤12 months, ≤24 months, and >24 months. Criteria for suspicion included delayed meconium passage, unresponsive chronic constipation, and abnormal prior test results. HR-ARM, supplemented by additional tests, confirmed 16 HD cases. HR-ARM exhibited 93.75% sensitivity, 89.47% specificity, 99.03% negative predictive value (NPV), and 55.56% positive predictive value (PPV). Notably, HR-ARM consistently performed well in patients ≤ 2 years old but demonstrated reduced efficacy in older children, which was likely due to complications from chronic constipation. This study underscores HR-ARM's promise as a non-invasive HD screening tool, especially in younger patients. However, its limitations in older children warrant consideration. Establishing standardized protocols, particularly for assessing the recto-anal inhibitory reflex, is crucial. Further research is imperative to optimize HR-ARM's diagnostic role across varied age groups in HD assessment.

Very early onset perinatal constipation: Can it be cow's milk protein allergy?

Delayed passage of meconium or constipation during the perinatal period is traditionally regarded as a signal to initiate further work up to evaluate for serious diagnoses such as Hirschsprung's disease (HD), meconium ileus due to Cystic Fibrosis, etc. The diagnosis of HD particularly warrants invasive testing to confirm the diagnosis, such as anorectal manometry or rectal suction biopsy. What if there was another etiology of perinatal constipation, that is far lesser known? Cow's milk protein allergy (CMPA) is often diagnosed in infants within the first few weeks of life, however, there are studies that show that the CMPA allergen can be passed from mother to an infant in-utero, therefore allowing symptoms to show as early as day one of life. The presentation is more atypical, with perinatal constipation rather than with bloody stools, diarrhea, and vomiting. The diagnosis and management would be avoidance of cow's milk protein within the diet, with results and symptom improvement in patients immediately. Therefore, we discuss whether an alternative pathway to address perinatal constipation should be further discussed and implemented to potentially avoid invasive techniques in patients. This entails first ruling out CMPA with safe, noninvasive techniques with diet modification, and if unsuccessful, then moving forward with further diagnostic modalities.

The Effectiveness of Rectal Suction Biopsy in the Diagnosis of Hirschsprung’s Disease

The Effectiveness of Rectal Suction Biopsy in the Diagnosis of Hirschsprung’s Disease

Non-standard approach to infants and children with megacolon: laparotomy and endorectal pull-through for diagnosis and treatment in difficult countries with low resources in a non-profit setting: return to the past Soave's ERPT.

Hirschsprung's disease is an important cause of pediatric constipation with high risk of bacterial enterocolitis. Its diagnosis is histological and the suction biopsy is the gold standard. In resource-limited countries, the main diagnostic exam is the contrast enema and mini-invasive surgery lacks. We present the management of a cohort of patients with megacolon in Haiti, a low-resource country. Children with megacolon and fecal impaction admitted at St Damien Children Hospital in Port-Au-Prince in June, August and December 2017 were included. We considered only patients with an evident transition zone on contrast enema who underwent endorectal pull-through (ERPT). Short term complications were recorded. Twenty children with clinical megacolon were admitted, eleven were included in the study. No suction rectal biopsy and intraoperative histological evaluation were performed. In ten children a Soave ERPT with anastomosis at 5POD was performed, in the other case a Boley primary anastomosis was preferred. One patient complicated with a peritonitis. No major complications were recorded. Colostomy was not considered a good option. In developing countries, Soave ERPT with definitive anastomosis after few days could be considered a valid option. Colostomy is suggested only in case of scant general conditions or bad colon appearance.

Rectal suction biopsies to diagnose Hirschsprung's disease in a low-resource environment - optimising cost-effectiveness.

The diagnosis of Hirschsprung's disease (HD) by rectal suction biopsy (RSB) has cost implications that could be reduced by ascertaining the optimal number of specimens required. The aim was to audit our experience to optimise cost-effectiveness. Medical records of all patients who underwent an RSB between January 2018 and December 2021 were reviewed. In 2020, we transitioned from using the Solo-RBT to the rbi2 system (requiring single-use cartridges). Descriptive statistics were reported and a comparative analysis of the diagnostic efficacy of the Solo-RBT versus the rbi2 system was performed. The cost of consumables was calculated according to the number of specimens submitted. Of 218 RSBs, 181 were first and 37 were repeat. The mean age at biopsy was 62 days (IQR 22-65). An average of two tissue specimens were obtained per biopsy. Of the 181 first biopsies, 151 were optimal and 30 suboptimal. HD was confirmed in 19 (10.5%) of the patients. Amongst biopsies where a single specimen was obtained, 16% were inconclusive, compared to 14% with two specimens and 5% with three specimens. The cartridges for the rbi2 system cost R530. If two cartridges are used at initial biopsy the total cost is double of a single tissue specimen sent for initial biopsy, and two specimens sent for repeat biopsies. In a low-resource setting, selecting the appropriate RSB system and obtaining a single specimen is sufficient to diagnose HD. Patients with inconclusive results should undergo a repeat biopsy where two specimens are obtained.

Systematic orientation of fresh rectal suction biopsies improves histopathological diagnostics in hirschsprung’s disease – a method description and preliminary report

BackgroundOptimizing rectal suction biopsy (RSB) diagnostics in Hirschsprung’s disease (HD) may shorten diagnostic time and prevent need for repeated biopsies.AimTo explore whether systematic orientation of fresh RSB specimens increased biopsy quality, diagnostic times, diagnostic efficacy, and histopathologic workload, and to explore these outcome measures for aganglionic specimens.Materials/MethodsThis was an observational case-control study conducted at a national referral center for HD on data collected from the local HD-diagnostic register. From 2019 each fresh RSB was oriented by the collector in a notch in a foam cushion, placed in a separate cassette, and sent in formalin for pathological analysis. Outcome measures of oriented RSB samples collected 2019–2021 were compared to those of non-oriented RSB samples collected 2015–2018. Staining/immunohistochemistry consisted of hematoxylin eosin, S-100 and calretinin.Results78 children with 81 RSBs and 242 biopsy analyzes were included. The frequency of high-quality RSB specimens was higher in oriented: 40% (42/106) versus non-oriented 25% (34/136) (p = 0.018), the diagnostic turnaround time was shorter: 2 days (1–5) versus 3 days (2–8) (p = 0.015), and the number of additional sectioning/leveling/re-orientation per biopsy was lower: 7 (3–26) versus 16 (7–72) (p = 0.011). Specifically for aganglionic specimens, the frequency of high-quality biopsies was generally higher in oriented than in non-oriented RSB specimens: 47% (28/59) versus 14% (7/50) (p < 0.001); the diagnostic efficacy was higher 95% (19/20) versus 60% (9/15) (p = 0.027) and the diagnostic turnaround time shorter: 2 days (2–3) versus 3 days (2–8) (p = 0.036).ConclusionsSystematic orientation of fresh RSB specimens improves HD diagnostics. Improvement was consistent in aganglionic specimens.

Rare presentation and retrograde diagnosis of total colonic aganglionosis in a female infant: a case report

BackgroundTotal colonic aganglionosis is an extremely rare variant of Hirschsprung’s disease, which is predominant in males and can be seen in 1:50,000 live births. The presented case not only depicts a rare case, but also unusual clinical, laboratory, and instrumental data.Case presentationA 2-day-old Caucasian female newborn was transferred to our hospital from maternity. The initial presentation was reverse peristalsis, abdominal distention, and inability to pass stool. Fever had started before the patient was transferred. Hirschsprung’s disease was suspected, and tests such as contrast enema and rectal suction biopsy were done. Before enterostomy, the management of the disease included fluid resuscitation, colonic irrigation, antibiotic administration, enteral feeding, and supportive therapy. During ileostomy operation, no transition zone was visualized and full-thickness biopsy samples were retrieved from the rectum and descending colon. After surgical intervention, status significantly improved—defervescence and weight gain most importantly improved.ConclusionIt is well known that diagnosis of total colonic aganglionosis may be delayed for months or even years since the transition zone may not be visible and rectal suction biopsy, unlike full-thickness biopsy, is not always reliable. It might be more prudent not to be derailed because of negative radiography and rectal suction biopsy. Also, doctors should be more suspicious of the disease if signs and symptoms are starting to be consistent with Hirschsprung-associated enterocolitis, despite biopsy and radiology results.

Hirschsprung's disease in a genetically diagnosed Cri-du-chat syndrome baby

Hirschsprung's disease (HSD) is a congenital disease characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Many genetic causes of HSD have been investigated, although the most common and widely accepted is the RET gene located on chromosome 10q11.2. The presence of other coinciding genetic abnormalities with HSD, such as Cri-du-chat (CDC) syndrome, might provide a better understanding of the genetic bases of the disease. We present a case of a term baby boy who had features of Cri-du-chat syndrome at birth that were confirmed genetically. Later, the patient developed features of lower GI obstruction and was diagnosed with HSD by suction rectal biopsy. He underwent surgery and recovered well. We conclude that physicians involved in the care of babies with CDC and lower GI obstruction should consider the possibility of HSD and investigate accordingly. Additionally, when CDC and HSD coexist in a patient, the CDC genotype should be determined by whole exome sequencing and examined to identify mutations associated with HSD.

Diagnosing Hirschsprung Disease in Children Younger than 6 Months of Age: Insights in Incidence of Complications of Rectal Suction Biopsy and Other Final Diagnoses.

The gold standard for diagnosing Hirschsprung disease (HD) in patients younger than 6 months is pathological examination of rectal suction biopsy (RSB). The aim of this study was to gain insight into the following: (1) complications following RSB, (2) final diagnosis of patients referred for RSB, and (3) factors associated with HD. Patients suspected of HD referred for RSB at our center were analyzed retrospectively. Severity of complications of RSB was assessed using Clavien-Dindo (CD) grading. Factors associated with HD were tested using multivariate logistic regression analysis. From 2000 to 2021, 371 patients underwent RSB because of infrequent defecation, at a median age of 44 days. Three patients developed ongoing rectal bleeding (0.8%) graded CD1. Most frequent final diagnoses were: HD (n = 151, 40.7%), functional constipation (n = 113, 31%), idiopathic meconium ileus (n = 11, 3%), and food intolerance (n = 11, 3%). Associated factors for HD were male sex (odds ratio [OR], 3.19; confidence interval [CI], 1.56-6.53), presence of syndrome (OR, 7.18; CI, 1.63-31.69), younger age at time of RSB (OR, 0.98; CI, 0.85-0.98), meconium passage for more than 48 hours (OR, 3.15; CI, 1.51-6.56), distended abdomen (OR, 2.09; CI, 1.07-4.07), bilious vomiting (OR, 6.39; CI, 3.28-12.47), and failure to thrive (OR, 8.46; CI, 2.11-34.02) (model R 2 = 0.566). RSB is a safe procedure with few and only minor complications. In the majority of patients referred for RSB under the age of 6 months, HD was found followed by a functional cause for the defecation problems. RSB should be obtained on a low threshold in all patients under the age of 6 months with the suspicion of HD.

Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy.

Background: Defects in expression, maturation or function of the epithelial membrane glycoprotein CFTR are causative for the progressive disease cystic fibrosis. Recently, molecular therapeutics that improve CFTR maturation and functional defects have been approved. We aimed to verify whether we could detect an improvement of CFTR protein expression and maturation by triple therapy with elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA). Methods: Rectal suction biopsies of 21 p.Phe508del homozygous or compound heterozygous CF patients obtained pre- and during treatment with ELX/TEZ/IVA were analyzed by CFTR Western blot that was optimized to distinguish CFTR glycoisoforms. Findings: CFTR western immunoblot analysis revealed that-compared to baseline-the levels of CFTR protein increased by at least twofold in eight out of 12 patients upon treatment with ELX/TEZ/IVA compared to baseline (p < 0.02). However, polydispersity of the mutant CFTR protein was lower than that of the fully glycosylated wild type CFTR Golgi isoform, indicating an incompletely glycosylated p.Phe508el CFTR protein isoform C* in patients with CF which persists after ELX/TEZ/IVA treatment. Interpretation: Treatment with ELX/TEZ/IVA increased protein expression by facilitating the posttranslational processing of mutant CFTR but apparently did not succeed in generating the polydisperse spectrum of N-linked oligosaccharides that is characteristic for the wild type CFTR band C glycoisoform. Our results caution that the lower amounts or immature glycosylation of the C* glycoisoform observed in patients' biomaterial might not translate to fully restored function of mutant CFTR necessary for long-term provision of clinical benefit.

S2819 Endoscopic Full-Thickness Resection as a Means to Diagnose Hirschsprung Disease

Introduction: Hirschsprung Disease (HD) is the congenital absence of ganglionic cells in the rectum and often thought of as a disease of childhood. However, this disease may persist into adulthood and symptoms such as chronic constipation can negatively affect quality of life. Patients often require a multidisciplinary approach between geneticists, colorectal surgeons, endoscopists and gastrointestinal pathologists during initial evaluation. Confirming the diagnosis has historically required a suction or open rectal biopsy, which is considered the gold standard for diagnosis. This is an invasive procedure that is prone to complications. Potential biopsy modalities include open, punch, suction and endoscopic. Interestingly, endoscopic biopsy using an endoscopic full-thickness resection (EFTR) device is rarely reported. Case Description/Methods: Here we present a case of a 42-year-old female with a history of Hirschsprung disease diagnosed as a child. The patient had an extensive surgical history including colostomy, colostomy reversal, and closed loop obstruction. The patient had also been recently diagnosed with an enterocutaneous fistula. The patient was evaluated by a general surgeon who referred her to gastroenterology motility clinic. Gastrografin enema confirmed extensive stool burden without strictures. The patient underwent anorectal manometry, which found abnormal push, high sphincter pressure at rest, and absence in rectal inhibitory reflex, findings concerning for HD. A flexible sigmoidoscopy was performed to determine the extent of the disease. Full thickness endoscopic biopsy of the rectum using an EFTR device showed an absence of ganglionic cells. The patient underwent a takedown of enterocutaneous fistula as well with improvement in symptoms. (Figure) Discussion: Endoscopic biopsy of the rectum is a minimally invasive technique that can provide adequate tissue samples to confirm a diagnosis. There is a paucity of data regarding the comparison between endoscopic versus traditional techniques. Based on our experience, we suggest that endoscopic rectal biopsy may be a safe and effective method to diagnose Hirschsprung Disease in the adult population. EFTR devices are potentially able to resect the entire wall of the gastrointestinal tract. This technique could greatly simplify the diagnostic process in that it is safe and effective, and less invasive than surgical techniques. However, further studies are needed to better characterize the utility of this technique in this specific patient population.Figure 1.: A) H&E showing absence of myenteric ganglion cells B) Successful endoscopic full-thickness resection of tissue with Ovesco clip in place.

Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease.

Hirschsprung disease is one of the most common congenital anomalies that affect colorectal function. Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. Suction and incisional rectal biopsies are appropriate methods for obtaining diagnostic tissue. The goal of this study is to determine if any differences in adequacy exist between suction and incisional rectal biopsies at our institution. We conducted a retrospective review of suction and incisional rectal biopsies for inadequacy per procedure at a tertiary pediatric hospital. Each procedure for rectal biopsy was also evaluated by a number of biopsies per procedure. We used a two-sample test of proportions to compare the inadequacy of suction vs. incisional biopsies. 133 rectal suction biopsy procedures (227 biopsies) and 125 incisional biopsy procedures (140 biopsies) were analyzed. In patients 6months of age and older, the percentage of inadequate procedures was substantially higher in the suction biopsy group (24.1% vs 0.9%, p < 0.01). A substantially higher proportion of inadequacy was found in the suction rectal biopsy group compared to the incisional cohort among the older patient cohort, suggesting incisional biopsies should be strongly considered as the primary rectal biopsy method in patients older than 6months.

Can Infant Dyschezia Be a Suspect of Rectosigmoid Redundancy?

Infant dyschezia is a functional gastrointestinal disorder that occurs in children less than nine months of age. This disorder causes much anxiety among parents who consult different physicians when suspecting major intestinal problems. The aim of this study is to verify whether infant dyschezia involves an anatomic abnormality (redundancy) of the colon. In this retrospective study (48 months) we analyzed all the children younger than 9 months who came to our attention through the suspicion of gastrointestinal abnormality (Hirschsprung’s disease, anorectal malformations, colonic disorders or constipation). They all had a complete medical history, clinical examination and diagnostic tests, such as blood samples, suction rectal biopsy, a study of stool characteristics and, finally, a contrast enema. In cases with infant dyschezia, different colonic sizes and rectosigmoid length were measured, which created a ratio with the diameter of the second lumbar vertebra. These values were compared with those reported in the literature as normal for the age of one year. Of the 24 patients evaluated (mean age 4 months), 9 were excluded for different diagnoses (aganglionic megacolon, hypothyroidism, constipation). The comparison of the ratios obtained in the remaining 15 cases showed a significantly higher rectosigmoid length (redundancy) in children with dyschezia, 18.47 vs. 9.75 (p < 0.001). The rectosigmoid redundancy, a congenital anomaly already reported as a cause of refractory constipation, may be present in children with infant dyschezia.