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Endoscopy International Open Jun 2024There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating... (Review)
Review
There is limited consensus on the optimal method for measuring disease severity in familial adenomatous polyposis (FAP). We aimed to systematically review the operating properties of existing endoscopic severity indices for FAP. We searched MEDLINE, EMBASE, and the Cochrane Library from inception to February 2023 to identify randomized controlled trials (RCTs) that utilized endoscopic outcomes or studies that evaluated the operating properties of endoscopic disease severity indices in FAP. A total of 134 studies were included. We evaluated scoring indices and component items of scoring indices, such as polyp count, polyp size, and histology. Partial validation was observed for polyp count and size. The most commonly reported scoring index was the Spigelman classification system, which was used for assessing the severity of duodenal involvement. A single study reported almost perfect interobserver and intra-observer agreement for this system. The InSIGHT polyposis staging system, which was used for assessing colorectal polyp burden, has been partially validated. It showed substantial interobserver reliability; however, the intra-observer reliability was not assessed. Novel criteria for high-risk gastric polyps have been developed and assessed for interobserver reliability. However, these criteria showed a poor level of agreement. Other scoring indices assessing the anal transition zone, duodenal, and colorectal polyps have not undergone validation. There are no fully validated endoscopic disease severity indices for FAP. Development and validation of a reliable and responsive endoscopic disease severity instrument will be informative for clinical care and RCTs of pharmacological therapies for FAP.
PubMed: 38904059
DOI: 10.1055/a-2330-8037 -
Radiology and Oncology Jun 2024Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic... (Review)
Review
BACKGROUND
Patients with familial adenomatous polyposis (FAP) develop early colorectal adenomas and if left untreated, progression to cancer is an inevitable event. Prophylactic surgery does not prevent further development of cancer in the rectal remnant, rectal cuff in patients with ileal pouch anal anastomosis (IPAA) and even on the ileal mucosa of the pouch body. The aim of this review is to assess long-term rates of cancer and adenoma development in patients with FAP after prophylactic surgery and to summarise current recommendations for endoscopic management and surveillance of these patients.
MATERIALS AND METHODS
A systematic literature search of studies from January 1946 through to June 2023 was conducted using the PRISMA checklist. The electronic database PubMed was searched.
RESULTS
Fifty-four papers involving 5010 patients were reviewed. Cancer rate in the rectal remnant was 8.8-16.7% in the western population and 37% in the eastern population. The cumulative risk of cancer 30 years after surgery was 24%. Mortality due to cancer in the rectal remnant is 1.1-11.1% with a 5-year survival rate of 55%. The adenoma rate after primary IPAA was 9.4-85% with a cumulative risk of 85% 20 years after surgery and a cumulative risk of 12% for advanced adenomas 10 years after surgery. Cumulative risk for adenomas after ileorectal anastomosis (IRA) was 85% after 5 and 100% after 10 years. Adenomas developed more frequently after stapled (33.9-57%) compared to hand-sewn (0-33%) anastomosis. We identified reports of 45 cancers in patients after IPAA of which 30 were in the pouch body and 15 in the rectal cuff or at the anastomosis.
CONCLUSIONS
There was a significant incidence of cancer and adenomas in the rectal remnant and ileal pouch of FAP patients during the long-term follow-up. Regular endoscopic surveillance is recommended, not only in IRA patients, but also in pouch patients after proctocolectomy.
Topics: Humans; Adenomatous Polyposis Coli; Proctocolectomy, Restorative; Colectomy; Adenoma; Prophylactic Surgical Procedures; Colorectal Neoplasms
PubMed: 38860690
DOI: 10.2478/raon-2024-0029 -
The British Journal of Surgery May 2024Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of...
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
BACKGROUND
Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers.
METHODS
A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%).
RESULTS
One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes.
CONCLUSION
These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.
Topics: Humans; Adenomatous Polyposis Coli; Stomach Neoplasms; Adenocarcinoma; DNA Glycosylases; Neoplastic Syndromes, Hereditary; Europe; Adenomatous Polyps; Polyps
PubMed: 38722804
DOI: 10.1093/bjs/znae070 -
Cancer Control : Journal of the Moffitt... 2024This systematic review and meta-analysis aimed to compare outcomes between stapled ileal pouch-anal anastomosis (IPAA) and hand-sewn IPAA with mucosectomy in cases of... (Meta-Analysis)
Meta-Analysis Review
Stapled Anastomosis Versus Hand-Sewn Anastomosis With Mucosectomy for Ileal Pouch-Anal Anastomosis: A Systematic Review and Meta-analysis of Postoperative Outcomes, Functional Outcomes, and Oncological Safety.
PURPOSE
This systematic review and meta-analysis aimed to compare outcomes between stapled ileal pouch-anal anastomosis (IPAA) and hand-sewn IPAA with mucosectomy in cases of ulcerative colitis and familial adenomatous polyposis.
METHODS
This systematic review and meta-analysis was performed according to the Preferred Reporting Items for Systematic Review and Meta-analysis) guidelines 2020 and AMSTAR 2 (Assessing the methodological quality of systematic reviews) guidelines. We included randomized clinical trials (RCTs) and controlled clinical trials (CCTs). Subgroup analysis was performed according to the indication for surgery.
RESULTS
The bibliographic research yielded 31 trials: 3 RCTs, 5 prospective clinical trials, and 24 CCTs including 8872 patients: 4871 patients in the stapled group and 4038 in the hand-sewn group. Regarding postoperative outcomes, the stapled group had a lower rate of anastomotic stricture, small bowel obstruction, and ileal pouch failure. There were no differences between the 2 groups in terms of operative time, anastomotic leak, pelvic sepsis, pouchitis, or hospital stay. For functional outcomes, the stapled group was associated with greater outcomes in terms of seepage per day and by night, pad use, night incontinence, resting pressure, and squeeze pressure. There were no differences in stool Frequency per 24h, stool frequency at night, antidiarrheal medication, sexual impotence, or length of the high-pressure zone. There was no difference between the 2 groups in terms of dysplasia and neoplasia.
CONCLUSIONS
Compared to hand-sewn anastomosis, stapled ileoanal anastomosis leads to a large reduction in anastomotic stricture, small bowel obstruction, ileal pouch failure, seepage by day and night, pad use, and night incontinence. This may ensure a higher resting pressure and squeeze pressure in manometry evaluation.
PROTOCOL REGISTRATION
The protocol was registered at PROSPERO under CRD 42022379880.
Topics: Male; Humans; Constriction, Pathologic; Surgical Stapling; Proctocolectomy, Restorative; Anastomosis, Surgical; Colonic Pouches; Postoperative Complications; Treatment Outcome
PubMed: 38410083
DOI: 10.1177/10732748241236338 -
Frontiers in Oncology 2023To evaluate the efficacy of Difluoromethylornithine (DFMO) chemoprevention in the high-risk population for colorectal cancer (CRC).
OBJECTIVES
To evaluate the efficacy of Difluoromethylornithine (DFMO) chemoprevention in the high-risk population for colorectal cancer (CRC).
METHODS
Meta-analysis was conducted to assess the caliber of the included literature by searching five databases for randomized controlled trials of DFMO chemoprevention in the high-risk population of CRC, with RevMan 5.4, Stata 15.0 and TSA 0.9.5.10 employed to statistically analyze the extracted data. Grade profiler 3.6 was employed for grading the evidence for the outcome indicators (disease progression and adenoma incidence).
RESULTS
Six trials were finally included in this research, with the collective data indicating that the DFMO combination therapy was efficacious in lowering the incidence of recurrent adenomas in patients who had experienced advanced CRC [RR 0.34, 95% CI 0.14 - 0.83, P < 0.05]. Meta-analysis showed that DFMO combined therapy had no statistical difference in disease progression in patients with familial adenomatous polyposis[RR 0.52, 95% CI 0.14 - 1.86, P > 0.05]; Trial Sequential Analysis reveals that the combination therapy of DFMO effectively diminishes the occurrence of recurrent adenomas in patients with a history of advanced colorectal tumors, displaying a Risk Ratio (RR) of 0.33 with a 95% Confidence Interval (CI) of 0.12 - 0.90 and a significance level of P < 0.05. This combination exhibits a statistically significant difference. Subgroup analysis demonstrates that, depending on the drug treatment regimen (DFMO+ Aspirin/DFMO+ Sulindac), the combination of DFMO and aspirin exhibits an effect comparable to a placebo in diminishing the occurrence of new adenomas in patients with a history of advanced colorectal tumors. However, the combination of DFMO and sulindac significantly mitigates the incidence of recurrent adenomas in this patient population.
CONCLUSION
This meta-analysis indicates that the existing randomized controlled trials are adequate to ascertain the efficacy of DFMO combination therapy in diminishing the incidence of recurrent adenomas in patients who have previously encountered advanced colorectal tumors. However, further clinical trials need to be conducted to evaluate the optimum dosage and treatment course of prophylactic implementation of DFMO combination therapy in high-risk populations.
PubMed: 38033490
DOI: 10.3389/fonc.2023.1281844 -
Cureus Sep 2023Chronic rhinosinusitis (CRS) is a large group of heterogeneous diseases characterized by extensive inflammation of the nasal mucosa and sinuses. Vitamin D (VD), as an... (Review)
Review
Chronic rhinosinusitis (CRS) is a large group of heterogeneous diseases characterized by extensive inflammation of the nasal mucosa and sinuses. Vitamin D (VD), as an immunoregulatory hormone, may play an important role in the pathophysiology of CRS. The purpose of this study is to review the existing literature that correlates VD levels with CRS with or without nasal polyps. A systematic manual search was conducted in the PubMed and Google Scholar databases up to July 2023. Articles from PubMed and the first 100 articles from Google Scholar were recorded for our research. Keywords used were the following: vitamin D, chronic rhinosinusitis, and nasal polyps. Among the 134 articles retrieved, only 18 were eligible. The other 116 studies were excluded as they related VD levels with other conditions (e.g., allergic rhinitis) and for other reasons. However, we identified two more eligible records through the manual research of the above-mentioned 132 studies, and finally, 20 records were included in the current review. The review concerned case-control studies, prospective, retrospective, and cross-sectional studies. Based on our review, we concluded that CRS patients are correlated with the lowest VD levels, accompanied by increased severity of the disease, especially in those with nasal polyposis. Patients can benefit from appropriate VD supplementation, and serum VD levels should be included in the laboratory assessment of CRS. However, due to the heterogeneity of the individuals involved, more well-designed clinical trials as well as randomized clinical trials should be conducted for further validation of the above findings in the general population in the future.
PubMed: 37908960
DOI: 10.7759/cureus.46275 -
American Journal of Rhinology & Allergy Nov 2023Chronic rhinosinusitis (CRS) is a heterogeneous condition characterized by differing inflammatory endotypes. The identification of suitable biomarkers could enable...
BACKGROUND
Chronic rhinosinusitis (CRS) is a heterogeneous condition characterized by differing inflammatory endotypes. The identification of suitable biomarkers could enable personalized approaches to treatment selection.
OBJECTIVE
This study aimed to identify and summarize clinical studies of biomarkers in adults with CRS in order to inform future research into CRS endotypes.
METHODS
We conducted systematic searches of MEDLINE and Web of Science from inception to January 30, 2022 and included all clinical studies of adult CRS patients and healthy controls measuring biomarkers using enzyme-linked immunosorbent assays or Luminex immunoassays. Outcomes included the name and tissue type of identified biomarkers and expression patterns within CRS phenotypes. Study quality was assessed using the National Institutes of Health quality assessment tool for observational cohort and cross-sectional studies. A narrative synthesis was performed.
RESULTS
We identified 78 relevant studies involving up to 9394 patients, predominantly with CRS with nasal polyposis. Studies identified 80 biomarkers from nasal tissue, 25 from nasal secretions, 14 from nasal lavage fluid, 24 from serum, and one from urine. The majority of biomarkers found to distinguish CRS phenotypes were identified in nasal tissue, especially in nasal polyps. Serum biomarkers were more commonly found to differentiate CRS from controls. The most frequently measured biomarker was IL-5, followed by IL-13 and IL-4. Serum IgE, IL-17, pentraxin-3 and nasal phospho-janus kinase 2, IL-5, IL-6, IL-17A, granulocyte-colony stimulating factor, and interferon gamma were identified as correlated with disease severity.
CONCLUSION
We have identified numerous potential biomarkers to differentiate a range of CRS phenotypes. Future studies should focus on the prognostic role of nasal tissue biomarkers or expand on the more limited studies of nasal secretions and nasal lavage fluid.We registered this study in PROSPERO (CRD42022302787).
Topics: Humans; Adult; Rhinitis; Interleukin-5; Cross-Sectional Studies; Sinusitis; Biomarkers; Nasal Polyps; Chronic Disease
PubMed: 37491901
DOI: 10.1177/19458924231190568 -
Indian Journal of Otolaryngology and... Apr 2023Chronic rhinosinusitis with nasal polyposis (CRSwNP) is a highly prevalent and challenging disease to manage. Several systematic reviews (SRs) have been carried out to...
OBJECTIVES
Chronic rhinosinusitis with nasal polyposis (CRSwNP) is a highly prevalent and challenging disease to manage. Several systematic reviews (SRs) have been carried out to evaluate the efficacy and safety of biologic therapies. We aimed to evaluate the current and available evidence of the biologics in treating CRSwNP.
DATA SOURCE
Systematic Review of three electronic databases.
REVIEW METHODS
Following the PRISMA Statement, the authors explored three main databases through February 2020 for pertinent SRs and meta-analyses (MAs) as well as experimental and observational studies. A Measurement Tool to Assess Systematic Reviews Version-2 (AMSTAR-2), was employed to evaluate the quality of methodology of SRs and MAs.
RESULTS
A Total of five SRs were included in this overview. The AMSTAR-2 final summary was moderate to critically low. Although conflicting findings were reported, anti-immunoglobulin E (Anti-IgE) and anti-interleukin-4 (Anti-IL-4) were superior to placebo for improving total nasal polyp (NP) score, particularly in patients with asthma. Findings of the included reviews revealed that both sinus opacification and the Lund-Mackay (LMK) total scores significantly improved after biologics use. Subjective quality-of-life (QoL) assessment provided by general and specific questionnaires illustrated favorable results of biologics for CRSwNP, whereas no significant adverse events were reported.
CONCLUSION
The current findings support the use of biologics for CRSwNP patients. However, the evidence for their use in such patients should be cautiously adopted because of the questionable evidence.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s12070-022-03144-8.
PubMed: 37206723
DOI: 10.1007/s12070-022-03144-8 -
Journal of Medical Genetics Nov 2023While constitutional pathogenic variants in the gene cause familial adenomatous polyposis, c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate... (Meta-Analysis)
Meta-Analysis
While constitutional pathogenic variants in the gene cause familial adenomatous polyposis, c.3920T>A; p.Ile1307Lys (I1307K) has been associated with a moderate increased risk of colorectal cancer (CRC), particularly in individuals of Ashkenazi Jewish descent. However, published data include relatively small sample sizes, generating inconclusive results regarding cancer risk, particularly in non-Ashkenazi populations. This has led to different country/continental-specific guidelines regarding genetic testing, clinical management and surveillance recommendations for I1307K. A multidisciplinary international expert group endorsed by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), has generated a position statement on the I1307K allele and its association with cancer predisposition. Based on a systematic review and meta-analysis of the evidence published, the aim of this document is to summarise the prevalence of the I1307K allele and analysed the evidence of the associated cancer risk in different populations. Here we provide recommendations on the laboratory classification of the variant, define the role of predictive testing for I1307K, suggest recommendations for cancer screening in I1307K heterozygous and homozygous individuals and identify knowledge gaps to be addressed in future research studies. Briefly, I1307K, classified as pathogenic, low penetrance, is a risk factor for CRC in individuals of Ashkenazi Jewish origin and should be tested in this population, offering carriers specific clinical surveillance. There is not enough evidence to support an increased risk of cancer in other populations/subpopulations. Therefore, until/unless future evidence indicates otherwise, individuals of non-Ashkenazi Jewish descent harbouring I1307K should be enrolled in national CRC screening programmes for average-risk individuals.
Topics: Humans; Genetic Predisposition to Disease; Adenomatous Polyposis Coli; Colorectal Neoplasms; Genes, APC; Risk Factors; Jews
PubMed: 37076288
DOI: 10.1136/jmg-2022-108984 -
Clinical Otolaryngology : Official... Jul 2023To investigate the association between laryngopharyngeal reflux (LPR), gastroesophageal reflux disease (GERD) and recalcitrant chronic rhinosinusitis (CRS). (Review)
Review
OBJECTIVE
To investigate the association between laryngopharyngeal reflux (LPR), gastroesophageal reflux disease (GERD) and recalcitrant chronic rhinosinusitis (CRS).
DATA SOURCES
PubMed, Cochrane Library and Scopus.
REVIEW METHODS
Three investigators searched the specified databases for studies investigating the relationship between LPR, GERD and recalcitrant CRS with or without polyposis. The following outcomes were investigated with PRISMA criteria: age; gender; reflux and CRS diagnosis; association outcomes and potential treatment outcomes. The authors performed a bias analysis of papers and provided recommendations for future studies.
RESULTS
A total of 17 studies investigated the association between reflux and recalcitrant CRS. According to pharyngeal pH monitoring, 54% of patients with recalcitrant CRS reported hypo or nasopharyngeal acid reflux events. The number of hypo- and nasopharyngeal acid reflux events was significantly higher in patients compared to healthy individuals in 4 and 2 studies, respectively. Only one study did not report intergroup differences. The proportion of GERD was significantly higher in CRS patients compared to controls, with a prevalence ranging from 32% to 91% of cases. No author considered nonacid reflux events. There was significant heterogeneity in the inclusion criteria; definition of reflux and association outcomes, limiting the ability to draw clear conclusions. Pepsin was found in sinonasal secretions more frequently in CRS patients than controls.
CONCLUSION
Laryngopharyngeal reflux and GERD may be contributing factors of CRS therapeutic resistance, but future studies are needed to confirm the association considering nonacid reflux events.
Topics: Humans; Laryngopharyngeal Reflux; Esophagitis, Peptic; Pepsin A; Sinusitis
PubMed: 36895147
DOI: 10.1111/coa.14047