Review
Microbiology
Sireekarn Chantakhow, Jiraporn Khorana, Kanokkan Tepmalai, Nonglak Boonchooduang, Nipon Chattipakorn, Siriporn C. Chattipakorn
Summary: Hirschsprung disease (HSCR) is commonly associated with a life-threatening complication known as Hirschsprung-associated enterocolitis (HAEC), related to gut dysbiosis. Studies have shown controversial changes in alpha diversity of microbiota in HAEC patients, but potential improvement through probiotics. Furthermore, differences in microbiota between proximal ganglionic and distal aganglionic intestines have been observed.
Article
Medicine, General & Internal
Raed Al-Taher, Hebah Tawfiq Daradkeh, Hiba Hadadin, Abdelrahman Obiedat, Yazan Hijazein, Laith Hijazein, Sarah Obiedat, Yazeed Hadadin, Abdel rahman Al Manasra, Hamza Alduraidi, Malik Juweid
Summary: Chronic constipation is a common complaint in children, and Hirschsprung's disease is an important pathological cause. This study compared the presentation and predictive factors for positive rectal biopsy results in Jordanian children with refractory constipation.
Article
Genetics & Heredity
M. Erculiani, F. Poluzzi, G. Mottadelli, E. Felici, M. L. Novi, M. Caraccia, A. Grandi, S. Casella, L. Giacometti, G. Montobbio, I Ceccherini, E. Di Marco, C. Bonaretti, R. Biassoni, M. Squillario, A. Pietrantoni, V. Villanacci, A. Pini Prato
Summary: The study revealed a 10-fold higher incidence of chronic inflammation in TCSA patients, with up to 50% developing IBD-like lesions postoperatively. However, specific risk factors for prevention strategies were not identified. Recommendations include screening all TCSA patients with retrograde ileoscopy regardless of fecal markers.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Gastroenterology & Hepatology
Desiree F. Baaleman, Samir Mishra, Ilan J. N. Koppen, Jac. M. Oors, Marc A. Benninga, Neetu Bali, Karla H. Vaz, Desale Yacob, Carlo Di Lorenzo, Peter L. Lu
Summary: This study aimed to investigate the difference in detecting rectoanal inhibitory reflex (RAIR) between awake and under general anesthesia conditions during anorectal manometry (ARM). A retrospective review of ARM studies found that in 26% of the children, RAIR was only identified under general anesthesia and not during awake ARM. General anesthesia also caused a decrease in anal canal pressure, leading to inconclusive test results.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2023)
Article
Gastroenterology & Hepatology
Claudio Morera, Samuel Nurko, Leonel Rodriguez
Summary: The study evaluated the utility of motility studies in pediatric functional constipation, finding that patients with fecal incontinence had higher frequency of normal motility parameters than those without, but overall interpretation was not different. Colonic manometry helped predict therapy response in functional constipation without fecal incontinence, while anorectal manometry showed no added benefit in the evaluation of functional constipation with/without fecal incontinence.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
Article
Immunology
Isabelle Mueller, Urs Kym, Virginie Galati, Sasha Tharakan, Ulrike Subotic, Thomas Krebs, Eleuthere Stathopoulos, Peter Schmittenbecher, Dietmar Cholewa, Philipp Romero, Bertram Reingruber, Stefan Holland-Cunz, Simone Keck
Summary: Infants affected by Hirschsprung disease lack ganglia in a variable length of the colon and are prone to developing severe Hirschsprung-associated enterocolitis. Cholinergic signaling has been found to reduce inflammatory response, and the lack of cholinergic innervation correlates with higher incidence of enterocolitis. Cholinergic signals suppress the secretion of IL-8, a pro-inflammatory cytokine, in intestinal epithelial cells via the alpha 7 nicotinic acetylcholine receptor.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Konstantine Chakhunashvili, Davit G. Chakhunashvili, Eka Kvirkvelia, Eka Gozalishvili
Summary: This article presents a rare case of total colonic aganglionosis with unusual clinical, laboratory, and instrumental data. A 2-day-old Caucasian female newborn presented with reverse peristalsis, abdominal distention, and inability to pass stool. Diagnosis was achieved through ileostomy operation and full-thickness biopsy, leading to significant improvement.
JOURNAL OF MEDICAL CASE REPORTS
(2023)
Review
Gastroenterology & Hepatology
Desiree F. Baaleman, Monica Malamisura, Marc A. Benninga, Neetu Bali, Karla H. Vaz, Desale Yacob, Carlo Di Lorenzo, Peter L. Lu
Summary: The study aimed to describe the prevalence and clinical characteristics of patients with internal anal sphincter achalasia without Hirschsprung disease among children undergoing anorectal manometry. Patients with IASA had an earlier onset of symptoms and were more likely to have abnormal contrast enema studies compared to those with functional constipation. Patients with IASA had later onset of symptoms and were diagnosed at an older age compared to patients with Hirschsprung disease.
NEUROGASTROENTEROLOGY AND MOTILITY
(2021)
Article
Medicine, General & Internal
Tal David Berger, Karina Lukovits, David Cavanaugh, Samuel Nurko, Keira Mason
Summary: Anorectal manometry is a common gastrointestinal motility study in children and plays an important role in diagnosing Hirschsprung disease. However, this procedure can be uncomfortable and painful for children. The only available options for sedation are nitrous oxide or midazolam, and their effect on manometry readings is unclear. This study aimed to investigate the effect of Dexmedetomidine (DEX) on anorectal function in children. The results showed that DEX may alter the measurements of anorectal function, which is crucial for diagnosing gastrointestinal medical conditions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Gastroenterology & Hepatology
Sanne J. Verkuijl, Florian Friedmacher, Patrick N. Harter, Udo Rolle, Paul M. A. Broens
Summary: Hirschsprung's disease is a congenital disorder characterized by aganglionosis, with patients often experiencing persistent bowel dysfunction even after surgical resection. There is growing evidence of neuropathological abnormalities in HD patients, including imbalances in neurotransmitters and abnormal expression of enteric pacemaker cells.
WORLD JOURNAL OF GASTROINTESTINAL SURGERY
(2021)
Article
Gastroenterology & Hepatology
Sanne J. Verkuijl, Rob J. Meinds, Alida F. W. van der Steeg, Wim G. van Gemert, Ivo de Blaauw, Marieke J. Witvliet, Cornelius E. J. Sloots, Ernst van Heurn, Karin M. Vermeulen, Monika Trzpis, Paul M. A. Broens
Summary: This study compared the long-term outcomes of Hirschsprung patients with different lengths of aganglionic segments. The researchers found that patients with total colonic or long-segment aganglionosis had a lower likelihood of suffering from constipation compared to those with rectosigmoid aganglionosis. However, overall quality of life was comparable between the groups.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2022)
Article
Medicine, General & Internal
Richard Leibbrandt, Samuel Nurko, S. Mark Scott, Phil G. Dinning
Summary: This study analyzed combined antroduodenal and colonic manometry traces in pediatric patients and found that most colonic simultaneous pressure waves (SPWs) appeared to span the entire digestive tract, suggesting that they may be an artefact caused by factors outside the colon. The authors suggest that SPWs should not form part of any diagnostic criteria in pediatric studies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Nayna A. Lodhia, Laura Horton, Thapa Namisha, Alison H. Goldin, Walter W. Chan
Summary: This retrospective cohort study analyzed the relationship between recent opioid use in constipated patients and anorectal sensation, defecatory function, and balloon expulsion. Results showed that recent opioid use was associated with anorectal dysfunction and difficulty in passing stools.
DIGESTIVE DISEASES AND SCIENCES
(2022)
Article
Pediatrics
Raphael N. Vuille-Dit-Bille, Luis de La Torre, Jennifer Hall, Jill Ketzer, Alberto Pena, Andrea Bischoff
Summary: Analyzing the incidence of HD in ARM patients and ARM in HD patients, it is found that the simultaneous occurrence of ARM and HD is less common than previously reported in the literature.
JOURNAL OF PEDIATRIC SURGERY
(2021)
Review
Gastroenterology & Hepatology
Hannah M. E. Evans-Barns, Justina B. Swannjo, Misel Trajanovska, Mark Safe, John M. Hutson, Phil G. Dinning, Sebastian K. King
Summary: The systematic review focused on post-operative anorectal manometry in children with Hirschsprung disease, revealing a lack of high-quality evidence and consistency in reported outcomes. Standardization of protocols, cohort reporting, and outcome assessments are essential for future research in this area.
NEUROGASTROENTEROLOGY AND MOTILITY
(2022)