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Gastroenterology Nov 2022
Topics: Humans; Megacolon; Diverticulitis, Colonic
PubMed: 35667409
DOI: 10.1053/j.gastro.2022.06.004 -
International Journal of Colorectal... Aug 2020Large bowel obstruction and megacolon formation secondary to complicated diverticulitis is rare.
PURPOSE
Large bowel obstruction and megacolon formation secondary to complicated diverticulitis is rare.
METHODS
We present a case of an 84-year-old woman surviving large bowel obstruction and mega-megacolon formation secondary to complicated diverticulitis, with an impressive presentation of abdominal distention.
RESULTS
The patient's symptoms, laboratory test results, and imaging were consistent with large bowel obstruction. The patient underwent urgent exploratory laparotomy. Upon entry in the abdomen, it was unexpected that the extreme colonic wall thickening had prevented perforation, indicating the longtime course of illness. The biopsy of the specimen from the site of the obstruction demonstrated an inflammatory obstructing mass.
CONCLUSION
This report aims to point out the atypical and in-extremes presentation of an otherwise common disease.
Topics: Aged, 80 and over; Diverticulitis; Female; Humans; Intestinal Obstruction; Laparotomy; Megacolon
PubMed: 32447480
DOI: 10.1007/s00384-020-03642-7 -
Pediatrics and Neonatology Jul 2022
Topics: DNA-Binding Proteins; Hirschsprung Disease; Humans; Mixed Function Oxygenases; Proto-Oncogene Proteins
PubMed: 35739021
DOI: 10.1016/j.pedneo.2022.05.005 -
Pediatric Surgery International Dec 2022This article describes the common methods to study long-term outcomes in patients who have undergone major surgery in newborn period. It also sums up today's knowledge... (Review)
Review
This article describes the common methods to study long-term outcomes in patients who have undergone major surgery in newborn period. It also sums up today's knowledge on the long-term outcome of some classic newborn surgical conditions. The analysis of long-term outcomes is important to pediatric surgeons. Knowledge of long-term outcome can guide the patient's management and principles of the follow-up throughout the patient's childhood. It also aims to give the parents of the patient a realistic picture on the development of their child. Recent data have shown that many patients who have undergone major surgery during early childhood have significant functional aberrations at adult age. Some of these have a profound influence on the quality of life of these patients.
Topics: Infant, Newborn; Child; Adult; Humans; Child, Preschool; Quality of Life; Hirschsprung Disease
PubMed: 36542182
DOI: 10.1007/s00383-022-05325-6 -
Journal of Gastrointestinal Surgery :... May 2023
Topics: Adult; Humans; Hirschsprung Disease
PubMed: 36717467
DOI: 10.1007/s11605-022-05560-1 -
The Surgical Clinics of North America Oct 2022Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications... (Review)
Review
Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications specific to ARM include fistula remnants, recurrence, urinary reflux with associated chronic renal insufficiency, sexual dysfunction, and fertility difficulties. Complications specific to HD include enterocolitis, persistent or acquired aganglionosis, and internal sphincter achalasia. ARM and HD patients are both at risk of stricture, bowel dysfunction and incontinence, which can have a severe impact on quality of life. Bowel management strategies should be tailored to the patient's specific category of bowel dysfunction.
Topics: Anal Canal; Anorectal Malformations; Fecal Incontinence; Hirschsprung Disease; Humans; Quality of Life
PubMed: 36209741
DOI: 10.1016/j.suc.2022.07.005 -
Nature Communications Apr 2023Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction. Here,...
Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction. Here, using induced pluripotent stem cell-based models of Hirschsprung and single-cell transcriptomic analysis, we identify a gene set of 118 genes commonly dysregulated in all patient enteric neural crest cells, and suggest HDAC1 may be a key regulator of these genes. Furthermore, upregulation of RNA splicing mediators and enhanced alternative splicing events are associated with severe form of Hirschsprung. In particular, the higher inclusion rate of exon 9 in PTBP1 and the perturbed expression of a PTBP1-target, PKM, are significantly enriched in these patient cells, and associated with the defective oxidative phosphorylation and impaired neurogenesis. Hedgehog-induced oxidative phosphorylation significantly enhances the survival and differentiation capacity of patient cells. In sum, we define various factors associated with Hirschsprung pathogenesis and demonstrate the implications of oxidative phosphorylation in enteric neural crest development and HSCR pathogenesis.
Topics: Humans; Hirschsprung Disease; Neural Crest; Transcriptome; Oxidative Phosphorylation; Enteric Nervous System; Heterogeneous-Nuclear Ribonucleoproteins; Polypyrimidine Tract-Binding Protein
PubMed: 37061531
DOI: 10.1038/s41467-023-37928-5 -
American Journal of Clinical Pathology Mar 2023Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and... (Review)
Review
OBJECTIVES
Hirschsprung disease (HD) is a congenital condition defined by the absence of ganglion cells in the distal-most portion of the gastrointestinal tract. Biopsies and resections for HD can be adrenaline inducing for the general surgical pathologist because specimens are infrequent; HD is 1 of only a few neuroanatomic diseases that general surgical pathologists diagnose; numerous preanalytic factors (eg, biopsy adequacy, surgeon sampling protocol, processing artifacts) can affect histologic interpretation; and most importantly, the diagnosis has high stakes.
METHODS
We provide a comprehensive overview of the background, relevant clinical procedures, and pathologic assessment of HD. Grossing and frozen section protocols, an algorithmic approach to diagnosis, and histologic pearls and pitfalls are also discussed.
RESULTS
Evaluation and recognition of the features of HD have evolved significantly in the past 2 decades with the discovery of the value of calretinin immunohistochemistry in the late 2000s and the recent development of straightforward and reproducible histologic criteria for identification of the HD transition zone.
CONCLUSIONS
These advancements have substantially improved the pathologist's ability to reliably evaluate for HD. Nonetheless, as with any high-stakes surgical pathology specimen, clear communication with the clinical team is essential.
Topics: Humans; Infant; Hirschsprung Disease; Pathologists; Rectum; Biopsy; Immunohistochemistry; Calbindin 2
PubMed: 36565211
DOI: 10.1093/ajcp/aqac141 -
Neurogastroenterology and Motility Jul 2021Mice with a recessive gene which reduces the number of ganglion cells of the distal colon and rectum and produces megacolon, imitating Hirschsprung disease, are... (Review)
Review
Mice with a recessive gene which reduces the number of ganglion cells of the distal colon and rectum and produces megacolon, imitating Hirschsprung disease, are discussed as a model for integrative control of the large intestinal smooth musculature by the enteric division of the autonomic nervous system (ie, the brain-in-the-gut). Investigative approaches, such as propulsion of artificial pellets in preparations of whole colon in organ baths in vitro and innovative approaches capitalizing on neurogenetic technologies (eg, optogenetics), are considered in view of potential application in the development of novel therapeutic mechanisms to selectively evoke and control gastrointestinal motility patterns, such as the small intestinal digestive motility pattern, interdigestive pattern, and reversed direction of powerful propulsive motility during emesis. This minireview relates to the paper titled: "Motor patterns in the proximal and distal mouse colon which underlie formation and propulsion of feces," appearing in this issue of Neurogastroenterology and Motility.
Topics: Animals; Disease Models, Animal; Gastrointestinal Motility; Hirschsprung Disease; Intestine, Large; Mice
PubMed: 34145934
DOI: 10.1111/nmo.14206 -
Advances in Experimental Medicine and... 2020The gastrointestinal (GI) tract consists of a remarkable series of organs that spatially and temporally coordinate the vital process of digestion to extract key... (Review)
Review
The gastrointestinal (GI) tract consists of a remarkable series of organs that spatially and temporally coordinate the vital process of digestion to extract key nutrients required to sustain our day-to-day functions. During development, it undergoes complex and highly specialized morphogenetic events to form functionally distinct organs. Its failure to develop properly leads to serious congenital diseases, which if left untreated are particularly devastating and often result in premature death. These GI diseases have been estimated to impact approximately 8-16 of every 10,000 newborns [1, 2]. Importantly, the clinical manifestations of these diseases are severe, with untreated cases having high mortality rates. While some disorders, such as Hirschsprung's disease, can be treated effectively with surgery, the efficacy of this management strategy is far lower for other diseases, such as necrotizing enterocolitis. Moreover, children often face complications from these surgical procedures, leading to secondary ailments. Consequently, a better understanding of gastrointestinal development is fundamental to the treatment and prevention of congenital GI maladies. This chapter will explore some of the most prevalent and biologically complex congenital diseases of the GI system, with emphasis on animal models that both elucidate their underlying causes and lay the essential groundwork for the advancement of translational medicine.
Topics: Animals; Disease Models, Animal; Enterocolitis, Necrotizing; Gastrointestinal Diseases; Hirschsprung Disease; Humans
PubMed: 32304070
DOI: 10.1007/978-981-15-2389-2_4