-
Pediatric Surgery International Jul 2023This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC).
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.
Topics: Child; Humans; Retrospective Studies; Constipation; Sennosides; Polyethylene Glycols; Enema; Megacolon; Colon, Sigmoid; Treatment Outcome
PubMed: 37428259
DOI: 10.1007/s00383-023-05508-9 -
BMC Urology Jan 2024Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder... (Review)
Review
BACKGROUND
Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder with duplication of the posterior urethra have rarely been reported. Furthermore, the combination thereof with congenital megacolon is rare.
CASE PRESENTATION
A 21-year-old male was admitted to our hospital because of frequent urination for two months. He presented to another hospital first with frequent urination and underwent computed tomography (CT) and testicular biopsy. Anti-inflammatory therapy was administered by the doctor to the patient. For further diagnosis and treatment, the patient went to the outpatient department in our hospital on June 6, 2022. After admission, the patient underwent ultrasound, CT, MRI, cystoscopy, and other related examinations and tests. The examination results suggested that the patient had duplication of the bladder with duplication of the posterior urethra. In addition, the patient's mother reported that he had suffered from long-term constipation with abdominal distension before the age of 5 years. At the time, he was admitted to the local hospital and was diagnosed with congenital megacolon based on the relevant examinations. After the patient was diagnosed with duplication of bladder and urethra, the doctor recommended surgical treatment to the patient. However, he considered that he only had frequent urination symptoms, and chose conservative treatment rather than to undergo surgical treatment. Thus, the doctor prescribed anti-inflammatory treatment. Four months later, the patient reported that frequent urination symptoms persisted, and was also considering fertility-related problems. The outpatient follow-up will be continued.
CONCLUSIONS
In this article, we summarize the imaging findings of duplication of the bladder with duplication of the posterior urethra and propose the advantages and disadvantages of each type of imaging examination. We also review the relevant literature on cases of bladders with duplication of the posterior urethra. The related differential diagnosis is summarized, and the significance of guiding clinical treatment and diagnosis is discussed.
Topics: Male; Humans; Child, Preschool; Young Adult; Adult; Urinary Bladder; Urethra; Hirschsprung Disease; Intestines; Anti-Inflammatory Agents
PubMed: 38172803
DOI: 10.1186/s12894-023-01395-3 -
The Journal of Surgical Research Oct 2023Intraoperative leveling biopsy by identifying ganglion cells is crucial to determine surgical margin during surgery for Hirschsprung disease (HSCR). The anastomosis...
INTRODUCTION
Intraoperative leveling biopsy by identifying ganglion cells is crucial to determine surgical margin during surgery for Hirschsprung disease (HSCR). The anastomosis should be performed at least 5 cm proximal to the ganglionic segment to prevent transition zone pull-through. However, the length of the transition zone could be much longer than expected and the histological evaluation of the entire circumference of the proximal margin is recommended, which is time-consuming and not applicable for leveling biopsy. We found that the histopathologic features of ganglion cells varied in the examined bowel specimens and demonstrated a pattern similar to immature and degenerated neuron cells. We assumed that the histopathologic features of ganglion cells in the proximal resected bowel were associated with the clinical outcome and might guide the leveling biopsy. In this study, we described a histopathologic grade of ganglion cells based on the degree of maturity and degeneration. We assessed the correlation between the histopathological grade of ganglion cells in the proximal surgical margin and clinical outcome.
METHODS
Three hundred fifty seven patients with HSCR treated between 2013 and 2020 were included. The ganglion cells were divided into six grades based on the histopathologic features in frozen sections. Medical records and detailed histopathologic results of intraoperative frozen sections were reviewed. Follow-up data were collected to evaluate clinical outcomes. The pediatric incontinence and constipation scoring system was used to predict bowel function.
RESULTS
The histopathologic results of proximal resected bowel from 357 HSCR patients were presented as follows: Grade I in 52 patients (14.6%), Grade II in 186 patients (52.1%), Grade III in 107 patients (30.0%), and Grade IV in 12 patients (3.4%). The median follow-up time was 46.8 mo (13.0-97.6 mo). The histopathologic grade of ganglion cells from the proximal resected margin was significantly related to postoperative constipation problems and the incidence of Hirschsprung-associated enterocolitis. The results from the pediatric incontinence and constipation scoring system indicated a positive correlation between better postoperative bowel function and lower histopathologic grade of ganglion cells.
CONCLUSIONS
This pilot study showed an association between the histopathologic features of ganglion cells in the proximal surgical margin and the clinical outcome. It may provide additional information for intraoperative pathologic consultation in leveling biopsy to prevent insufficient resection of the affected colon. A prospective study is warranted to validate these findings before clinical application.
Topics: Child; Humans; Infant; Hirschsprung Disease; Pilot Projects; Margins of Excision; Prospective Studies; Constipation; Postoperative Complications; Neurons
PubMed: 37257402
DOI: 10.1016/j.jss.2023.03.012 -
BMC Pediatrics Mar 2024HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of...
BACKGROUND
HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex signaling pathways within the gene regulatory network (GRN) during the development of the enteric nervous system (ENS), including SRY-Box Transcription Factor 10 (SOX10) and REarranged during Transfection (RET). This study evaluated the expressions of SOX10 and RET in HSCR patients in Indonesia.
METHODS
Total RNA of 19 HSCR ganglionic and aganglionic colons and 16 control colons were analyzed using quantitative real-time polymerase chain reaction for SOX10 and RET with GAPDH as the reference gene. Livak's method (2) was used to determine the expression levels of SOX10 and RET.
RESULTS
Most patients were males (68.4%), in the short aganglionosis segment (78.9%), and had undergone transanal endorectal pull-through (36.6%). There were significant upregulated SOX10 expressions in both ganglionic (2.84-fold) and aganglionic (3.72-fold) colon of HSCR patients compared to controls' colon (ΔC 5.21 ± 2.04 vs. 6.71 ± 1.90; p = 0.032; and ΔC 4.82 ± 1.59 vs. 6.71 ± 1.90; p = 0.003; respectively). Interestingly, the RET expressions were significantly downregulated in both ganglionic (11.71-fold) and aganglionic (29.96-fold) colon of HSCR patients compared to controls' colon (ΔC 12.54 ± 2.21 vs. 8.99 ± 3.13; p = 0.0004; and ΔC 13.90 ± 2.64 vs. 8.99 ± 3.13; p = 0.0001; respectively).
CONCLUSIONS
Our study shows aberrant SOX10 and RET expressions in HSCR patients, implying the critical role of SOX10 and RET in the pathogenesis of HSCR, particularly in the Indonesian population. Our study further confirms the involvement of SOX10-RET within the GNR during the ENS development.
Topics: Male; Humans; Female; Hirschsprung Disease; Signal Transduction; Indonesia; Proto-Oncogene Proteins c-ret; SOXE Transcription Factors
PubMed: 38493096
DOI: 10.1186/s12887-024-04682-6 -
African Journal of Paediatric Surgery :... Jan 2024Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the...
BACKGROUND
Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the current outcome of TERPT in the setting.
MATERIALS AND METHODS
A retrospective review of 71 children who had TERPT for histologically-confirmed HD in 11 years (2006-2017) in Nigeria.
RESULTS
There were 48 boys and 23 girls; aged 3 days-12 years at initial presentation (median = 10 months). Three (4.2%) patients had associated anomalies (duodenal atresia; anorectal malformation and sensorineural deafness with hypopigmented skin patches each). Age at TERPT was 2 months to 15 years (median = 3 years), with surgery waiting time of 1 month-14.9 years (median = 18 months). Sixty-six (93.0%) patients had rectosigmoid, four (5.6%) patients had long segment and one (1.4%) had total colonic disease. Five (7.0%) patients with large megacolon and one (1.4%) with the total colonic disease had assisted abdominal resection of the colon at TERPT. Seventeen (23.9%) patients had post-operative complications, including post-operative enterocolitis 8 (11.3%); anastomotic dehiscence 3 (4.2%); retained aganglionic segment 2 (2.8%); anastomotic stenosis 2 (2.8%), resulting in prolonged hospital stay (P = 0.0001; range = 1-30 days; median = 5 days). The mortality rate was 4.2% (3) from malignant hyperthermia in one patient and in 2 patients, the cause of mortality was unclear. Patients were followed up for 3-6 years (median = 3.5 years). Bowel movement stabilised to 2-4 times daily by 6 weeks after surgery.
CONCLUSION
TERPT is a safe treatment for HD in this setting with good short-term outcomes. Longer follow-up is necessary to further evaluate the long-term bowel movement outcomes.!
Topics: Male; Child; Female; Humans; Hirschsprung Disease; Colonic Diseases; Anastomosis, Surgical; Anorectal Malformations
PubMed: 38259012
DOI: 10.4103/ajps.ajps_93_22 -
Pediatric Surgery International Feb 2024Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The...
BACKGROUND
Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The Hirschsprung and Anorectal Malformation Quality of Life (HAQL) questionnaire is a disease-specific instrument developed in the Netherlands to measure the QoL in patients with HD and anorectal malformations. The aim of this study was to translate, culturally adapt and validate HAQL in a Danish Hirschsprung population.
MATERIAL AND METHODS
Translation and cultural adaptation were performed according to international guidelines. Invitations to participate in the validation were sent to 401 patients operated for HD during the period from 1985 to 2012. A total of 156 patients completed the translated and culturally adapted Danish versions of HAQL and 35 parents of children and adolescents completed the corresponding parent questionnaire. Reliability was evaluated in terms of internal consistency using Cronbach's α and test-retest reliability using Intraclass Correlation Coefficient for the retest step. Known groups comparison was performed with comparison of mild HD (defined as recto-sigmoidal HD) and serious HD (defined as more proximal disease).
RESULTS
The internal consistency of the dimensions was overall satisfactory for adults and adolescents but more problematic for children, where Cronbach's α was less than 0.7 in 60% of the dimensions. For both children and adolescents, the α-value was unsatisfactory for social functioning, emotional functioning, and body image. The test-retest reliability was overall good. The known groups comparison was only able to demonstrate a significant difference between mild and severe HD within one dimension.
CONCLUSIONS
The translated version of the HAQL questionnaires provides an overall reliable instrument for evaluating disease-specific QoL in a Danish HD population, but it is important to acknowledge the limitations of the questionnaire, especially in children and adolescents.
Topics: Adult; Child; Adolescent; Humans; Quality of Life; Anorectal Malformations; Reproducibility of Results; Surveys and Questionnaires; Hirschsprung Disease; Denmark
PubMed: 38334791
DOI: 10.1007/s00383-024-05634-y -
The American Surgeon Dec 2023Sigmoid volvulus is a rare etiology of bowel obstruction in the pediatric population that can be easily misdiagnosed, leading to delayed treatment and potential...
Sigmoid volvulus is a rare etiology of bowel obstruction in the pediatric population that can be easily misdiagnosed, leading to delayed treatment and potential complications. Given that sigmoid volvulus is a common cause of bowel obstruction in the adult population and the significant lack of literature on its management in children, treatment strategies for pediatric patients often follow standardized protocols for adults. We report the case of a 15-year-old boy who presented with recurrent episodes of sigmoid volvulus over a 1-month period. Computed tomography demonstrated a sigmoid volvulus without evidence of ischemia or bowel infarction. Colonoscopy demonstrated a descending megacolon, and bowel transit studies demonstrated normal transit time. Acute episodes were managed conservatively with colonoscopic decompression. After a complete study, laparoscopic sigmoidectomy was performed. This work demonstrates the importance of early recognition and treatment of sigmoid volvulus in the pediatric population to limit recurrent episodes.
Topics: Male; Adult; Humans; Child; Adolescent; Intestinal Volvulus; Sigmoid Diseases; Intestinal Obstruction; Colonoscopy; Decompression, Surgical
PubMed: 36878189
DOI: 10.1177/00031348231160843 -
Pediatric Research Dec 2023Hirschsprung disease (HSCR) is a congenital intestinal malformation. Previous HSCR animal model needs invasive operation on adult animal. The aim of this study is to...
BACKGROUND
Hirschsprung disease (HSCR) is a congenital intestinal malformation. Previous HSCR animal model needs invasive operation on adult animal. The aim of this study is to establish an early-onset animal model which is consistent with the clinical manifestation of HSCR patients.
METHODS
The neonatal mice were randomly divided into the benzalkonium chloride (BAC) group, treated with BAC via enema, and the control group, treated with saline. Weight changes, excretion time of carmine, CT scan, hematoxylin-eosin staining and immunofluorescence staining were used to evaluate the effect of the model. Differentially expressed genes (DEGs) in the HSCR mice were analyzed by using DAVID 6.8 database and compared with DEGs from HSCR patients.
RESULTS
The weight of mice was lower and the excretion time of carmine was longer in the BAC group. Moreover, distal colon stenosis and proximal colon enlargement appeared in the BAC group. Neurons in the distal colon decreased significantly after 4 weeks of BAC treatment and almost disappeared completely after 12 weeks. Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.
CONCLUSIONS
An economical and reliable HSCR animal model which has similar clinical characteristics to HSCR patients was successfully established.
IMPACT
The animal model of Hirschsprung disease was first established in BALB/c mice. This model is an animal model of early-onset HSCR that is easy to operate and consistent with clinical manifestations. Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.
Topics: Humans; Mice; Animals; Hirschsprung Disease; Carmine; Intestines; Disease Models, Animal
PubMed: 37460708
DOI: 10.1038/s41390-023-02728-6 -
BMC Surgery Sep 2023There are few studies comparing robotic-assisted surgery (RAS) and laparoscopic-assisted surgery (LAS) in Hirschsprung's disease (HSCR). This study aimed to compare...
BACKGROUND
There are few studies comparing robotic-assisted surgery (RAS) and laparoscopic-assisted surgery (LAS) in Hirschsprung's disease (HSCR). This study aimed to compare intraoperative and postoperative outcomes between RAS and LAS performed during the same period.
METHODS
All consecutive 75 patients with pathologically diagnosed as HSCR who underwent Swenson pull-through surgery from April 2020 to Nov 2022, were included. Patients were divided into RAS group and LAS group and a retrospective analysis was performed based on clinical indexes and prognosis.
RESULTS
A total of 75 patients were included, among which, 31 patients received RAS and 44 received LAS. The RAS and LAS groups had similar ages, sex, weight, postoperative hospital stays, and fasting times. Compared with LAS, blood loss (p = 0.002) and the incidence of Hirschsprung-associated enterocolitis (p = 0.046) were significantly lower in the RAS group. The first onset of Hirschsprung-associated enterocolitis in patients younger than 3 months occurred significantly earlier (p = 0.043). Two patients experienced anastomotic leakage in the LAS group and one patient experienced incisional hernia in the RAS group. The cost of RAS was significantly higher than that of LAS (p < 0.0001).
CONCLUSIONS
RAS is a safe and effective alternative for HSCR children, and a delaying primary surgery until later in infancy (> 3 months) may improve outcomes.
Topics: Humans; Child; Infant; Hirschsprung Disease; Retrospective Studies; Robotic Surgical Procedures; Laparoscopy; Enterocolitis; Postoperative Complications; Treatment Outcome
PubMed: 37752449
DOI: 10.1186/s12893-023-02169-2 -
Autopsy & Case Reports 2023infection (CDI) is the culprit of millions of nosocomial infections in the United States. Programs that successfully decrease its incidence, therefore, render cost...
infection (CDI) is the culprit of millions of nosocomial infections in the United States. Programs that successfully decrease its incidence, therefore, render cost savings for the healthcare system. Toxic megacolon and perforation are two of the most significant complications with increased mortality rates. We report a 23-year-old nursing home resident hospitalized for fever, cough, and green sputum. After 3 days of antibiotic therapy, he developed abdominal distension, diarrhea, and vomiting and underwent a total colectomy. The colon was dilated to a maximum of 11 cm with markedly edematous mucosa and yellow pseudomembranes. Qualitative PCR of the stool detected toxin B gene. While there is no consensus for the required interval between antibiotic treatment and CDI, this presentation 3 days after starting the antibiotic therapy is earlier than most proposed ranges.
PubMed: 38034515
DOI: 10.4322/acr.2023.457