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International Journal of Surgery... Jan 2024
Meta-Analysis
Topics: Humans; Infant; Hirschsprung Disease; Enterocolitis; Risk Factors
PubMed: 37889590
DOI: 10.1097/JS9.0000000000000835 -
European Journal of Pediatric Surgery :... Apr 2024The variation in standardized, well-defined parameters in Hirschsprung's disease (HSCR) research hinders overarching comparisons and complicates evaluations of care...
The variation in standardized, well-defined parameters in Hirschsprung's disease (HSCR) research hinders overarching comparisons and complicates evaluations of care quality across healthcare settings. This review addresses the significant variability observed in these parameters as reported in recent publications. The goal is to compile a list of commonly described baseline characteristics, process and outcome measures, and to investigate disparities in their utilization and definitions. A systematic review of literature on the primary care process for HSCR was performed according to PRISMA guidelines. Relevant literature published between 2015 and 2021 was obtained by combining the search term "Hirschsprung's disease" with "treatment outcome," "complications," "mortality," "morbidity," and "survival" in Medline, Embase, and the Cochrane Library. We extracted study characteristics, reported process and outcome parameters, and patient and disease characteristics. We extracted 1,026 parameters from 200 publications and categorized these into patient characteristics ( = 226), treatment and care process characteristics ( = 199), and outcomes ( = 601). A total of 116 parameters were reported in more than 5% of publications. The most frequently reported characteristics were sex (88%), age at the time of surgery (66%), postoperative Hirschsprung-associated enterocolitis (64%), type of repair (57%), fecal incontinence (54%), and extent of aganglionosis (51%). This review underscores the pronounced variation in reported parameters within HSCR studies, highlighting the necessity for consistent, well-defined measures and reporting systems to foster improved data interpretability. Moreover, it advocates for the use of these findings in the development of a Core Indicator Set, complementing the recently developed Core Outcome Set. This will facilitate quality assessments across pediatric surgical centers throughout Europe.
Topics: Humans; Enterocolitis; Fecal Incontinence; Hirschsprung Disease; Rectum
PubMed: 37884061
DOI: 10.1055/a-2198-9050 -
International Journal of Surgery Case... Nov 2023The incidence of colorectal cancer in patients with inflammatory bowel disease is greater than the general population. Of those with inflammatory bowel disease,...
INTRODUCTION AND IMPORTANCE
The incidence of colorectal cancer in patients with inflammatory bowel disease is greater than the general population. Of those with inflammatory bowel disease, synchronous cancers are more common in ulcerative colitis than in Crohn's disease. It is rare for synchronous cancer to present as toxic megacolon in a patient with concomitant inflammatory bowel disease, specifically ulcerative colitis.
CASE PRESENTATION
In this report, we describe the clinical presentation of a 22-year-old female, who presented with toxic megacolon ultimately requiring total abdominal colectomy with end-ileostomy and a final pathology of two synchronous colon cancers, despite normal colonoscopy one year prior. The postoperative period was unremarkable, and the patient was referred to medical oncology to pursue adjuvant treatment.
CLINICAL DISCUSSION
Due to the increased incidence of colorectal cancer in patients with ulcerative colitis, screening colonoscopies are typically recommended at more frequent intervals than the general population. Toxic megacolon as the presentation for colon cancer in patients with underlying ulcerative colitis is exceedingly rare. To our knowledge, this is the first case reported of synchronous colon cancer presenting as toxic megacolon in a patient with ulcerative colitis and recent negative screening colonoscopy.
CONCLUSION
Colorectal cancer should always be high in the differential diagnosis for patients with ulcerative colitis regardless of the age. The principles of oncologic resection for colorectal cancer should be followed during colonic resections in patients with ulcerative colitis, even in the acute setting.
PubMed: 37883869
DOI: 10.1016/j.ijscr.2023.108984 -
Arquivos Brasileiros de Cirurgia... 2023Despite major advances in the clinical treatment of inflammatory bowel disease, some patients still present with acute colitis and require emergency surgery.
BACKGROUND
Despite major advances in the clinical treatment of inflammatory bowel disease, some patients still present with acute colitis and require emergency surgery.
AIMS
To evaluate the risk factors for early postoperative complications in patients undergoing surgery for acute colitis in the era of biologic therapy.
METHODS
Patients with inflammatory bowel disease admitted for acute colitis who underwent total colectomy at a single tertiary hospital from 2012 to 2022 were evaluated. Postoperative complications were graded according to Clavien-Dindo classification (CDC). Patients with more severe complications (CDC≥2) were compared with those with less severe complications (CDC<2).
RESULTS
A total of 46 patients underwent surgery. The indications were: failure of clinical treatment (n=34), patients' or surgeon's preference (n=5), hemorrhage (n=3), toxic megacolon (n=2), and bowel perforation (n=2). There were eight reoperations, 60.9% of postoperative complications classified as CDC≥2, and three deaths. In univariate analyses, preoperative antibiotics use, ulcerative colitis diagnosis, lower albumin levels at admission, and preoperative hospital stay longer than seven days were associated with more severe postoperative complications.
CONCLUSIONS
Emergency surgery for acute colitis was associated with a high incidence of postoperative complications. Preoperative use of antibiotics, ulcerative colitis, lower albumin levels at admission, and delaying surgery for more than seven days were associated with more severe early postoperative complications. The use of biologics was not associated with worse outcomes.
Topics: Humans; Colitis, Ulcerative; Retrospective Studies; Colitis; Inflammatory Bowel Diseases; Postoperative Complications; Colectomy; Risk Factors; Biological Therapy; Anti-Bacterial Agents; Albumins
PubMed: 37878974
DOI: 10.1590/0102-672020230052e1770 -
GE Portuguese Journal of... Oct 2023Acute severe ulcerative colitis (ASUC) is an emergent medical condition and particularly challenging to treat efficaciously. Infliximab is one of the medical salvage...
Acute severe ulcerative colitis (ASUC) is an emergent medical condition and particularly challenging to treat efficaciously. Infliximab is one of the medical salvage treatment options after corticosteroid refractoriness, but the best induction strategy is not yet defined. With this case series, the authors intend to describe three corticosteroid-refractory ASUC cases with different intensified/accelerated infliximab induction approaches and review the literature on this topic. The first case describes an 18-year-old girl with ASUC at disease onset with rapid progression to toxic megacolon, complicated also with anemia, hypoalbuminemia, and coagulopathy. After corticosteroid failure, both accelerated and intensified (10 mg/kg) infliximab regimen was completed within 11 days, with solid clinical response and colon imaging normalization. Second, we present a 26-year-old male with left-sided ulcerative colitis known for 2 years, under mesalazine, who developed a moderate flare and was started on infliximab after partial and inconsistent response to corticosteroids. During the induction period, he presented this time an ASUC episode, which motivated an early and intensified third dose with good clinical response. Finally, we describe the case of a 78-year-old man with ulcerative proctitis for 12 years presenting ASUC with proximal disease extension as well. After unsatisfactory response to corticosteroids, infliximab was initiated on an accelerated induction regimen, completed in 13 days, with the standard dose, achieving clinical remission. Accelerated or intensified infliximab induction plans are becoming current clinical practice in corticosteroid-refractory ASUC. Current guidelines refer to the possibility of this type of strategies, not determining the optimal regimen due to lack of solid evidence. Literature is mainly based on retrospective studies, not randomized, with heterogeneous groups according to disease severity, and the effect on colectomy rates, mainly on the long term, is not clear. Additional well-supported studies are needed on this subject in order to seek a more widely uniform approach.
PubMed: 37868637
DOI: 10.1159/000526509 -
Journal of Korean Medical Science Oct 2023In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term...
BACKGROUND
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
METHODS
Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
RESULTS
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
CONCLUSION
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
Topics: Infant; Female; Infant, Newborn; Humans; Child; Gastroschisis; Premature Birth; Constriction, Pathologic; Infant, Premature; Republic of Korea; Aortic Diseases; Congenital Abnormalities; Registries; Prevalence
PubMed: 37821084
DOI: 10.3346/jkms.2023.38.e304 -
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 -
BMC Pediatrics Sep 2023Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise...
BACKGROUND
Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome.
CASE PRESENTATION
We report a novel case with the syndrome with a novel de novo 22.16 Mb duplication at 2q21.2-q24.1. The syndrome is characterized by multiple anomalies including the same typical craniofacial phenotype that is entirely different from Mowat-Wilson syndrome (MWS), and other quite similar features of MWS consisting of development delay, congenital heart disease, abdominal abnormalities, urogenital abnormalities, behavioral problems and so on, in which the distinctive craniofacial features can be more easily recognized.
CONCLUSIONS
Contiguous gene gain syndrome including entire ZEB2 characterized with similar multiple congenital anomalies of MWS and the distinctive craniofacial features is mainly caused by large 2q22 repeats including ZEB2 leading to dominant singe ZEB2 gene gain mutation, which is recommended to be named "Liu-Liang-Chung" syndrome. We diagnose this novel syndrome to distinguish it from MWS. Some variable additional features in the syndrome including remarkable growth and development retardation and protruding ears were recognized for the first time.
Topics: Humans; Abnormalities, Multiple; Mutation; Hirschsprung Disease; Phenotype; Zinc Finger E-box Binding Homeobox 2
PubMed: 37735378
DOI: 10.1186/s12887-023-04314-5 -
World Journal of Gastroenterology Sep 2023Delayed passage of meconium or constipation during the perinatal period is traditionally regarded as a signal to initiate further work up to evaluate for serious... (Review)
Review
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, 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.
Topics: Animals; Cattle; Female; Infant; Pregnancy; Humans; Milk Hypersensitivity; Constipation; Biopsy; Diarrhea; Hirschsprung Disease
PubMed: 37731998
DOI: 10.3748/wjg.v29.i33.4920 -
PeerJ 2023The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype,...
The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype, is critical for whole-exome sequencing (WES) based clinical diagnosis. Therefore, it is essential to develop tools to identify the existence of clinically important variants in low-coverage regions. Here, we introduce a desktop application, namely DEVOUR (DEleterious Variants On Uncovered Regions), that analyzes read alignments for WES experiments, identifies genomic regions with no or low-coverage (read depth < 5) and then annotates known variants in the low-coverage regions using clinical variant annotation databases. As a proof of concept, DEVOUR was used to analyze a total of 28 samples from a publicly available Hirschsprung disease-related WES project (NCBI Bioproject: https://www.ncbi.nlm.nih.gov/bioproject/?term=PRJEB19327), revealing the potential existence of 98 disease-associated variants in low-coverage regions. DEVOUR is available from https://github.com/projectDevour/DEVOUR under the MIT license.
Topics: Humans; Exome Sequencing; Databases, Factual; Existentialism; Genomics; Hirschsprung Disease
PubMed: 37727687
DOI: 10.7717/peerj.16026