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Nature Reviews. Disease Primers Oct 2023Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the... (Review)
Review
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.
Topics: Infant, Newborn; Humans; Hirschsprung Disease; Down Syndrome; Waardenburg Syndrome; Anal Canal; Intellectual Disability
PubMed: 37828049
DOI: 10.1038/s41572-023-00465-y -
Canadian Association of Radiologists... May 2024Cancer is the second most common cause of death worldwide. Bowel emergencies in patients with cancer are becoming increasingly more prevalent due to advances in cancer... (Review)
Review
Cancer is the second most common cause of death worldwide. Bowel emergencies in patients with cancer are becoming increasingly more prevalent due to advances in cancer therapy and longer overall patient survival. When these patients present acutely, they are often frail and may have pre-existing co-morbidities. This article discusses the imaging features of bowel emergencies commonly encountered in oncological patients in clinical practice. These include chemotherapy related colitis, neutropenia enterocolitis and typhlitis, toxic megacolon, bowel perforation, malignant bowel obstruction and gastrointestinal haemorrhage. The radiologist plays a key role in identifying these oncological emergencies and guiding further management.
PubMed: 38721789
DOI: 10.1177/08465371241252035 -
The Surgical Clinics of North America Jun 2024Clostridioides difficile colitis is an important source of hospital-acquired diarrhea associated with antibiotic use. Symptoms are profuse watery diarrhea, typically... (Review)
Review
Clostridioides difficile colitis is an important source of hospital-acquired diarrhea associated with antibiotic use. Symptoms are profuse watery diarrhea, typically following a course of antibiotics; however, some cases of fulminant disease may manifest with shock, ileus, or megacolon. Nonfulminant colitis is treated with oral fidaxomicin. C difficile colitis has a high potential for recurrence, and recurrent episodes are also treated with fidaxomicin. Bezlotoxumab is another medication that may be used in populations at high risk for further recurrence. Fulminant disease is treated with maximal medical therapy and early surgical consultation. Antibiotic stewardship is critical to preventing C difficile colitis.
Topics: Humans; Clostridium Infections; Anti-Bacterial Agents; Clostridioides difficile; Colitis; Fidaxomicin
PubMed: 38677819
DOI: 10.1016/j.suc.2023.11.005 -
World Journal of Pediatrics : WJP Jul 2023Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction... (Review)
Review
BACKGROUND
Hirschsprung's disease (HSCR) is one of the most common congenital digestive tract malformations and can cause stubborn constipation or gastrointestinal obstruction after birth, causing great physical and mental pain to patients and their families. Studies have shown that more than 20 genes are involved in HSCR, and most cases of HSCR are sporadic. However, the overall rate of familial recurrence in 4331 cases of HSCR is about 7.6%. Furthermore, familial HSCR patients show incomplete dominance. We still do not know the penetrance and genetic characteristics of these known risk genes due to the rarity of HSCR families.
METHODS
To find published references, we used the title/abstract terms "Hirschsprung" and "familial" in the PubMed database and the MeSH terms "Hirschsprung" and "familial" in Web of Science. Finally, we summarized 129 HSCR families over the last 40 years.
RESULTS
The male-to-female ratio and the percentage of short segment-HSCR in familial HSCR are much lower than in sporadic HSCR. The primary gene factors in the syndromic families are ret proto-oncogene (RET) and endothelin B receptor gene (EDNRB). Most families show incomplete dominance and are relevant to RET, and the RET mutation has 56% penetrance in familial HSCR. When one of the parents is a RET mutation carrier in an HSCR family, the offspring's recurrence risk is 28%, and the incidence of the offspring does not depend on whether the parent suffers from HSCR.
CONCLUSION
Our findings will help HSCR patients obtain better genetic counseling, calculate the risk of recurrence, and provide new insights for future pedigree studies.
Topics: Humans; Male; Female; Hirschsprung Disease; Proto-Oncogene Proteins c-ret; Mutation; Pedigree
PubMed: 36857021
DOI: 10.1007/s12519-023-00686-x -
Neurogastroenterology and Motility Sep 2023In this prospective cohort study, we evaluated features of "adult-onset megacolon with focal hypoganglionosis."
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.
Topics: Humans; Adult; Middle Aged; Aged; Prospective Studies; Megacolon; Colon; Myenteric Plexus; Colectomy
PubMed: 37392417
DOI: 10.1111/nmo.14630 -
Biomedical Reports Feb 2024infection (CDI) is the most common cause of healthcare-associated diarrhea and among adults, the worldwide incidence rate of the infection is increasing. There is a... (Review)
Review
infection (CDI) is the most common cause of healthcare-associated diarrhea and among adults, the worldwide incidence rate of the infection is increasing. There is a small amount of data in the literature for pediatric patients, but most indicate an increasing trend. is a constituent of the normal microbiota; however, under specific conditions that cause a disruption of the normal bacterial flora, colonization of and the released toxins that cause inflammation and mucosal damage occurs. Risk factors for CDI at any age include hospitalization, exposure to antibiotics, administration of proton pump inhibitors, invasive mechanical ventilation, immunosuppression and presence of associated comorbidities. Clinical manifestations range from asymptomatic colonization to fulminant disease characterized by toxic megacolon, intestinal perforation and, rarely, death. The aim of the present review was to outline the features of CDI in pediatric patients.
PubMed: 38169799
DOI: 10.3892/br.2023.1706 -
Journal of Pediatric Surgery Aug 2023Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). The objective of this study... (Review)
Review
BACKGROUND
Hirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). The objective of this study was to examine the association of social determinants of health (SDOH) with HAEC.
METHODS
A review of patients who underwent primary pull through for HD at our institution from 2014 to 2021 was performed. Clinical, surgical, and SDOH data were collected. HAEC was defined by an international scoring system. Categorical variables were analyzed via Fisher's exact tests and continuous variables with Mood's median tests.
RESULTS
One hundred patients were identified with 29 patients (29%) having at least one episode of HAEC during a median follow-up of 31 months (IQR: 11.7-55.7). Children who utilized public transportation for clinic visits, had one or more missed appointments, had any reported safety concerns, were involved with Child Protective Services, had parents/guardians who were not married, lived with people other than their immediate family, or had mothers who reported drug use or lack of prenatal care were found to have a higher likelihood of developing HAEC (p<0.04 for all). Age at HD diagnosis, age at pull through, operative approach, length of aganglionic colon, and Trisomy 21 were not significant predictors of HAEC.
CONCLUSIONS
In our series of 100 patients undergoing primary pull through, there was a significant correlation of HAEC with several social determinants of health elements while anatomical and clinical factors were not associated with HAEC. Attention to social determinants of health and identifying high-risk patients may serve to prevent morbidity and mortality from HAEC.
LEVEL OF EVIDENCE
III.
Topics: Child; Humans; Infant; Social Determinants of Health; Hirschsprung Disease; Enterocolitis; Down Syndrome; Risk Factors
PubMed: 36371352
DOI: 10.1016/j.jpedsurg.2022.09.039 -
International Journal of Surgery... Aug 2023The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The incidence of Hirschsprung disease (HSCR) is nearly 1/5000 and patients with HSCR are usually treated through surgical intervention. Hirschsprung disease-associated enterocolitis (HAEC) is a complication of HSCR with the highest morbidity and mortality in patients. The evidence on the risk factors for HAEC remains inconclusive to date.
METHODS
Four English databases and four Chinese databases were searched for relevant studies published until May 2022. The search retrieved 53 relevant studies. The retrieved studies were scored on the Newcastle-Ottawa Scale by three researchers. Revman 5.4 software was employed for data synthesis and analysis. Stata 16 software was employed for sensitivity analysis and bias analysis.
RESULTS
A total of 53 articles were retrieved from the database search, which included 10 012 cases of HSCR and 2310 cases of HAEC. The systematic analysis revealed anastomotic stenosis or fistula [ I2 =66%, risk ratio (RR)=1.90, 95% CI 1.34-2.68, P <0.001], preoperative enterocolitis ( I2 =55%, RR=2.07, 95% CI 1.71-2.51, P <0.001), preoperative malnutrition ( I2 =0%, RR=1.96, 95% CI 1.52-2.53, P <0.001), preoperative respiratory infection or pneumonia ( I2 =0%, RR=2.37, 95% CI 1.91-2.93, P <0.001), postoperative ileus ( I2 =17%, RR=2.41, 95% CI 2.02-2.87, P <0.001), length of ganglionless segment greater than 30 cm ( I2 =0%, RR=3.64, 95% CI 2.43-5.48, P <0.001), preoperative hypoproteinemia ( I2 =0%, RR=1.91, 95% CI 1.44-2.54, P <0.001), and Down syndrome ( I2 =29%, RR=1.65, 95% CI 1.32-2.07, P <0.001) as the risk factors for postoperative HAEC. Short-segment HSCR ( I2 =46%, RR=0.62, 95% CI 0.54-0.71, P <0.001) and transanal operation ( I2 =78%, RR=0.56, 95% CI 0.33-0.96, P =0.03) were revealed as the protective factors against postoperative HAEC. Preoperative malnutrition ( I2 =35 % , RR=5.33, 95% CI 2.68-10.60, P <0.001), preoperative hypoproteinemia ( I2 =20%, RR=4.17, 95% CI 1.91-9.12, P <0.001), preoperative enterocolitis ( I2 =45%, RR=3.51, 95% CI 2.54-4.84, P <0.001), and preoperative respiratory infection or pneumonia ( I2 =0%, RR=7.20, 95% CI 4.00-12.94, P <0.001) were revealed as the risk factors for recurrent HAEC, while short-segment HSCR ( I2 =0%, RR=0.40, 95% CI 0.21-0.76, P =0.005) was revealed as a protective factor against recurrent HAEC.
CONCLUSION
The present review delineated the multiple risk factors for HAEC, which could assist in preventing the development of HAEC.
Topics: Humans; Hirschsprung Disease; Enterocolitis; Risk Factors; Incidence; Morbidity
PubMed: 37288551
DOI: 10.1097/JS9.0000000000000473