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2.
Frontline Gastroenterol ; 15(3): 203-213, 2024 May.
Article de Anglais | MEDLINE | ID: mdl-38665796

RÉSUMÉ

Background: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the most established restorative operative approach for patients with ulcerative colitis. It has associated morbidity and the potential for major repercussions on quality of life. As such, patient selection is crucial to its success. The main aim of this paper is to present an institutional preoperative checklist to support clinical risk assessment and patient selection in those considering IPAA. Methods: A literature review was performed to identify the risk factors associated with surgical complications, decreased functional outcomes/quality of life, and pouch failure after IPAA. Based on this, a preliminary checklist was devised and modified through an iterative process. This was then evaluated by a consensus group comprising the pouch multidisciplinary team (MDT) core members. Results: The final preoperative checklist includes assessment for risk factors such as gender, advanced age, obesity, comorbidities, sphincteric impairment, Crohn's disease and pelvic radiation therapy. In addition, essential steps in the decision-making process, such as pouch nurse counselling and discussion regarding surgical alternatives, are also included. The last step of the checklist is discussion at a dedicated pouch-MDT. Discussion: A preoperative checklist may support clinicians with the selection of patients that are suitable for pouch surgery. It also serves as a useful tool to inform the discussion of cases at the MDT meeting.

3.
J Crohns Colitis ; 2023 Nov 06.
Article de Anglais | MEDLINE | ID: mdl-37941424

RÉSUMÉ

BACKGROUND AND AIMS: Inflammatory bowel disease (IBD) is associated with high rates of post-colonoscopy colorectal cancer (PCCRC), but further in-depth qualitative analyses are required to determine whether they result from inadequate surveillance or aggressive IBD cancer evolution. METHODS: All IBD patients who had a colorectal cancer (CRC) diagnosed between January 2015 to July 2019 and a recent (<4 years) surveillance colonoscopy at one of four English hospital trusts underwent root cause analyses as recommended by the World Endoscopy Organisation to identify plausible PCCRC causative factors. RESULTS: 61% (n=22/36) of the included IBD CRCs were PCCRCs. They developed in patients with high cancer risk factors (77.8%; n=28/36) requiring annual surveillance, yet 57.1% (n=20/35) had inappropriately delayed surveillance. Most PCCRCs developed in situations where (i) an endoscopically unresectable lesion was detected (40.9%; n=9/22), (ii) there was a deviation from the planned management pathway (40.9%; n=9/22) e.g. service, clinician or patient-related delays in acting on a detected lesion, or (iii) lesions were potentially missed as they were typically located within areas of active inflammation or post-inflammatory change (36.4%; n=8/22). CONCLUSIONS: IBD PCCRC prevention will require more proactive strategies to reduce endoscopic inflammatory burden, improve lesion optical characterisation, adherence to recommended surveillance intervals and patient acceptance of prophylactic colectomy. However, the significant proportion appearing to originate from non-adenomatous-looking mucosa which fail to yield neoplasia on biopsy yet display aggressive cancer evolution highlight the limitations of current surveillance. Emerging molecular biomarkers may play a role in enhancing cancer risk stratification in future clinical practice.

4.
J Crohns Colitis ; 17(10): 1652-1671, 2023 Nov 08.
Article de Anglais | MEDLINE | ID: mdl-37171140

RÉSUMÉ

BACKGROUND AND AIMS: Inflammatory bowel disease colitis-associated dysplasia is managed with either enhanced surveillance and endoscopic resection or prophylactic surgery. The rate of progression to cancer after a dysplasia diagnosis remains uncertain in many cases and patients have high thresholds for accepting proctocolectomy. Individualised discussion of management options is encouraged to take place between patients and their multidisciplinary teams for best outcomes. We aimed to develop a toolkit to support a structured, multidisciplinary and shared decision-making approach to discussions about dysplasia management options between clinicians and their patients. METHODS: Evidence from systematic literature reviews, mixed-methods studies conducted with key stakeholders, and decision-making expert recommendations were consolidated to draft consensus statements by the DECIDE steering group. These were then subjected to an international, multidisciplinary modified electronic Delphi process until an a priori threshold of 80% agreement was achieved to establish consensus for each statement. RESULTS: In all, 31 members [15 gastroenterologists, 14 colorectal surgeons and two nurse specialists] from nine countries formed the Delphi panel. We present the 18 consensus statements generated after two iterative rounds of anonymous voting. CONCLUSIONS: By consolidating evidence for best practice using literature review and key stakeholder and decision-making expert consultation, we have developed international consensus recommendations to support health care professionals counselling patients on the management of high cancer risk colitis-associated dysplasia. The final toolkit includes clinician and patient decision aids to facilitate shared decision-making.


Sujet(s)
Colite , Maladies inflammatoires intestinales , Tumeurs , Humains , Méthode Delphi , Hyperplasie , Maladies inflammatoires intestinales/complications , Maladies inflammatoires intestinales/diagnostic , Maladies inflammatoires intestinales/thérapie , Risque , Revues systématiques comme sujet
5.
BMC Surg ; 23(1): 96, 2023 Apr 21.
Article de Anglais | MEDLINE | ID: mdl-37085812

RÉSUMÉ

BACKGROUND: There are no prospective trials comparing the two main reconstructive options after colectomy for Ulcerative colitis, ileal pouch anal anastomosis and ileorectal anastomosis. An attempt on a randomized controlled trial has been made but after receiving standardized information patients insisted on choosing operation themselves. METHODS: Adult Ulcerative colitis patients subjected to colectomy eligible for both ileal pouch anastomosis and ileorectal anastomosis are asked to participate and after receiving standardized information the get to choose reconstructive method. Patients declining reconstruction or not considered eligible for both methods will be followed as controls. The CRUISE study is a prospective, non-randomized, multi-center, open-label, controlled trial on satisfaction, QoL, function, and complications between ileal pouch anal anastomosis and ileorectal anastomosis. DISCUSSION: Reconstruction after colectomy is a morbidity-associated as well as a resource-intensive activity with the sole purpose of enhancing function, QoL and patient satisfaction. The aim of this study is to provide the best possible information on the risks and benefits of each reconstructive treatment. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05628701.


Sujet(s)
Rectocolite hémorragique , Proctocolectomie restauratrice , Adulte , Humains , Rectocolite hémorragique/chirurgie , Rectocolite hémorragique/complications , Suède , Qualité de vie , Anastomose chirurgicale , Colectomie
6.
Colorectal Dis ; 25(6): 1169-1175, 2023 06.
Article de Anglais | MEDLINE | ID: mdl-36806873

RÉSUMÉ

AIM: A robotic approach to ileal pouch-anal anastomosis (IPAA) surgery offers advantages over other approaches in terms of precision, improved access to the pelvis and less muscular fatigue for the surgeon. The integrity of the anastomosis is also fundamental to successful IPAA surgery. The robotic platform can permit intracorporeal suturing deep within the pelvis to create a single-stapled, double purse-string anastomosis, which may reduce the risk of anastomotic complications. This study describes the safety and early outcomes of robotic intracorporeal single-stapled anastomosis (RiSSA) amongst patients operated consecutively at a tertiary centre immediately before and following the pandemic. METHOD: A retrospective study of prospectively collected data analysing the outcome of patients undergoing robotic IPAA between 2019 and 2022 was conducted. All procedures were performed with the da Vinci Xi Surgical System (with a hand-assisted suprapubic incision to fashion the pouch). All pouch-anal anastomoses were performed using a double purse-string, single-stapled (RiSSA) method. Demographic, clinical and outcome data were collected. RESULTS: Twenty consecutive patients (nine with ulcerative colitis and 11 with familial adenomatous polyposis) were included with a median age of 25 years (range 16-52); 18 had American Society of Anesthesiologists classification II, and mean body mass index was 24 kg/m2 (range 18.1-34.3). Nine patients (eight ulcerative colitis and one familial adenomatous polyposis) had undergone prior subtotal colectomy and therefore underwent restorative proctectomy with IPAA. Eleven patients underwent restorative proctocolectomy. All procedures were completed robotically. The median length of stay was 9 days (5-49). There were no unplanned admissions to intensive care and no deaths. Three patients were readmitted following hospital discharge for (i) an ileus managed conservatively, (ii) small bowel obstruction managed conservatively and (iii) small bowel obstruction due to constriction at the stoma site necessitating surgery. There were two additional reoperations both for drain complications, one for drain removal and one for drain erosion. On mobilization of the pouch in the latter case, an anastomotic defect was observed. In total, 19/20 patients underwent RiSSA without postoperative anastomotic problems. DISCUSSION: RiSSA offers a safe and feasible alternative technique to other minimally invasive approaches with low rates of anastomosis-related complications.


Sujet(s)
Polypose adénomateuse colique , Rectocolite hémorragique , Poches coliques , Occlusion intestinale , Proctocolectomie restauratrice , Interventions chirurgicales robotisées , Humains , Adolescent , Jeune adulte , Adulte , Adulte d'âge moyen , Interventions chirurgicales robotisées/méthodes , Rectocolite hémorragique/chirurgie , Rectocolite hémorragique/complications , Études rétrospectives , Centres de soins tertiaires , Résultat thérapeutique , Anastomose chirurgicale/méthodes , Proctocolectomie restauratrice/méthodes , Complications postopératoires/étiologie , Complications postopératoires/chirurgie , Polypose adénomateuse colique/chirurgie , Occlusion intestinale/étiologie
9.
Colorectal Dis ; 25(2): 282-288, 2023 02.
Article de Anglais | MEDLINE | ID: mdl-36109836

RÉSUMÉ

BACKGROUND: There are reported variations in the intraoperative management of Crohn's disease. This consensus statement aimed to develop a standardised protocol for photographic documentation of intraoperative findings and critical procedural steps in ileocolonic Crohn's disease surgery. METHODS: Colorectal surgeons with a specialist interest in minimally invasive surgery and inflammatory bowel disease were invited as committee members to develop a survey on the use of photo-documentation in Crohn's disease surgery. A 15 item survey was developed on ethical considerations and applications of photo-documentation in audit and quality control, research, and training. RESULTS: There was strong agreement on the potential application of intraoperative photo-documentation in Crohn's disease for training, research, quality control and tertiary referrals. Reviewers agreed that intraoperative staging required photo-documentation of strictures, skip lesions, perforations, fat wrapping and mesenteric disease. The necessary steps to be photo-documented were very specific to Crohn's disease surgery, such as views of anastomosis and strictureplasties, and extent of resection(s). CONCLUSIONS: Our consensus statement identified several items for appropriate intraoperative photo-documentation in Crohn's disease surgery, to be used as an adjunct to accurate annotation of intraoperative findings and procedures.


Sujet(s)
Maladie de Crohn , Humains , Maladie de Crohn/chirurgie , Sténose pathologique , Anastomose chirurgicale , Études rétrospectives
10.
BJS Open ; 6(5)2022 09 02.
Article de Anglais | MEDLINE | ID: mdl-36268752

RÉSUMÉ

BACKGROUND: Anastomotic leaks represent one of the most significant complications of colorectal surgery and are the primary cause of postoperative mortality and morbidity. Sponge-assisted endoluminal vacuum therapy (EVT) has emerged as a minimally invasive technique for the management of anastomotic leaks; however, there are questions regarding patient selection due to the heterogeneous nature of anastomotic leaks and the application of sponge-assisted EVT by surgeons. METHOD: Seven colorectal surgical experts participated in a modified nominal group technique to establish consensus regarding key questions that arose from existing gaps in scientific evidence and the variability in clinical practice. After a bibliographic search to identify the available evidence and sequential meetings with participants, a series of recommendations and statements were formulated and agreed upon. RESULTS: Thirty-seven recommendations and statements on the optimal use of sponge-assisted EVT were elaborated on and unanimously agreed upon by the group of experts. The statements and recommendations answer 10 key questions about the indications, benefits, and definition of the success rate of sponge-assisted EVT for the management of anastomotic leaks. CONCLUSION: Although further research is needed to resolve clinical and technical issues associated with sponge-assisted EVT, the recommendations and statements produced from this project summarize critical aspects to consider when using sponge-assisted EVT and to assist those involved in the management of patients with colorectal anastomotic leaks.


Sujet(s)
Tumeurs colorectales , Traitement des plaies par pression négative , Humains , Désunion anastomotique/chirurgie , Désunion anastomotique/étiologie , Traitement des plaies par pression négative/méthodes , Consensus , Vide , Tumeurs colorectales/chirurgie , Tumeurs colorectales/complications
11.
Lancet Gastroenterol Hepatol ; 7(9): 871-893, 2022 09.
Article de Anglais | MEDLINE | ID: mdl-35798022

RÉSUMÉ

Surveillance pouchoscopy is recommended for patients with restorative proctocolectomy with ileal pouch-anal anastomosis in ulcerative colitis or familial adenomatous polyposis, with the surveillance interval depending on the risk of neoplasia. Neoplasia in patients with ileal pouches mainly have a glandular source and less often are of squamous cell origin. Various grades of neoplasia can occur in the prepouch ileum, pouch body, rectal cuff, anal transition zone, anus, or perianal skin. The main treatment modalities are endoscopic polypectomy, endoscopic ablation, endoscopic mucosal resection, endoscopic submucosal dissection, surgical local excision, surgical circumferential resection and re-anastomosis, and pouch excision. The choice of the treatment modality is determined by the grade, location, size, and features of neoplastic lesions, along with patients' risk of neoplasia and comorbidities, and local endoscopic and surgical expertise.


Sujet(s)
Polypose adénomateuse colique , Poches coliques , Proctocolectomie restauratrice , Polypose adénomateuse colique/anatomopathologie , Polypose adénomateuse colique/chirurgie , Anastomose chirurgicale/effets indésirables , Poches coliques/effets indésirables , Humains , Iléum/chirurgie , Proctocolectomie restauratrice/effets indésirables
12.
Colorectal Dis ; 24(3): 253-254, 2022 03.
Article de Anglais | MEDLINE | ID: mdl-35391508
14.
Lancet Gastroenterol Hepatol ; 7(6): 576-584, 2022 06.
Article de Anglais | MEDLINE | ID: mdl-35325623

RÉSUMÉ

Perianal fistulising Crohn's disease is an aggressive disease phenotype that can have a substantial detrimental impact on patients' quality of life. Current biological understanding of perianal fistulising Crohn's disease remains inadequate and previous classification systems have not provided clear guidance on therapy in clinical practice nor on defining patient cohorts within clinical trials. We propose a new classification system for perianal fistulising Crohn's disease that was developed through a modified nominal group technique expert consensus process. The classification identifies four groups of patients. Key elements include stratification according to disease severity as well as disease outcome; synchronisation of patient and clinician goals in decision making, with a proactive, combined medical and surgical approach, on a treat to patient goal basis; and identification of indications for curative fistula treatment, diverting ostomy, and proctectomy. The new classification retains an element of flexibility, in which patients can cycle through different classes over time. Furthermore, with each specific class comes a paired treatment strategy suggestion and description of clinical trial suitability. The proposed classification system is the first of its kind and is an important step towards tailored standardisation of clinical practice and research in patients with perianal fistulising Crohn's disease.


Sujet(s)
Maladie de Crohn , Fistule rectale , Consensus , Maladie de Crohn/complications , Maladie de Crohn/diagnostic , Maladie de Crohn/thérapie , Humains , Qualité de vie , Fistule rectale/diagnostic , Fistule rectale/étiologie , Fistule rectale/thérapie , Indice de gravité de la maladie
15.
Aliment Pharmacol Ther ; 55(7): 836-846, 2022 04.
Article de Anglais | MEDLINE | ID: mdl-35132663

RÉSUMÉ

BACKGROUND: Inflammatory bowel disease (IBD) services have been particularly affected by the Covid-19 pandemic. Delays in referral to secondary care and access to investigations and surgery have been exacerbated. AIMS: To investigate the use of and outcomes for emergency IBD care during the Covid-19 pandemic. METHODS: Nationwide observational study using administrative data for England (2015-2020) comparing cohorts admitted from 1 January 2015, to 31 January 2020 (pre-pandemic) and from 1 February 2020, to 31 January 2021 (pandemic). Autoregressive integrated moving average forecast models were run to estimate the counterfactual IBD admissions and procedures for February 2020 to January 2021. RESULTS: Large decreases in attendances to hospital for emergency treatment were observed for both acute ulcerative colitis (UC, 16.4%) and acute Crohn's disease (CD, 8.7%). The prevalence of concomitant Covid-19 during the same episode was low [391/16 494 (2.4%) and 349/15 613 (2.2%), respectively]. No significant difference in 30-day mortality was observed. A shorter median length of stay by 1 day for acute IBD admissions was observed (P < 0.0001). A higher rate of emergency readmission within 28 days for acute UC was observed (14.1% vs 13.4%, P = 0.012). All IBD procedures and investigations showed decreases in volume from February 2020 to January 2021 compared with counterfactual estimates. The largest absolute deficit was in endoscopy (17 544 fewer procedures, 35.2% reduction). CONCLUSION: There is likely a significant burden of untreated IBD in the community. Patients with IBD may experience clinical harm or protracted decreases in quality of life if care is not prioritised.


Sujet(s)
COVID-19 , Rectocolite hémorragique , Maladies inflammatoires intestinales , COVID-19/épidémiologie , Rectocolite hémorragique/épidémiologie , Humains , Maladies inflammatoires intestinales/complications , Maladies inflammatoires intestinales/épidémiologie , Maladies inflammatoires intestinales/thérapie , Pandémies , Qualité de vie
16.
Eur J Gastroenterol Hepatol ; 34(1): 18-26, 2022 01 01.
Article de Anglais | MEDLINE | ID: mdl-33522723

RÉSUMÉ

INTRODUCTION: Anti-TNF therapy is recommended as treatment for patients with Crohn´s perianal fistulas. However, a significant proportion of patients have a sub-optimal response to anti-TNF therapy. Higher serum levels of anti-TNF agents have been associated with improved outcomes in perianal Crohn's disease. Currently, it is unknown whether anti-TNF agent levels can be detected in tissue from fistula tracts themselves and whether this is associated with response. AIMS AND METHODS: We undertook a pilot study to measure fistula tissue levels of anti-TNF medication (infliximab and adalimumab). We used a previously validated targeted proteomic technique, employing ultraperformance liquid chromatography-mass spectrometry, to detect/quantify anti-TNF drugs. Biopsies were obtained from fistula tracts of patients with Crohn's disease on maintenance treatment; with idiopathic (cryptoglandular) fistula tissues used as negative controls as well as positive controls (by spiking the latter tissues with anti-TNF drugs). RESULTS: Tissue was sampled from the fistula tracts of seven patients with Crohn's perianal disease (five patients were on adalimumab and two patients were on infliximab). The anti-TNF drugs, infliximab and adalimumab, were not detected in fistula samples from any of the Crohn's patients despite detection in 'spiked' positive control samples. CONCLUSION: Absence of detection of the anti-TNF drugs in fistula tissue raises the question on the role of tissue penetrance of anti-TNF drugs in response to therapy. Further work is required in a larger number of patients to validate the findings observed and investigate if any correlation exists between tissue and serum levels of anti-TNF and clinical outcome. SUMMARY: Predicting response in Crohn's fistula patients on biologic therapy is difficult with no reliable biomarkers. This pilot study uses targeted proteomics to investigate the potential role of tissue drug levels in acting as a biomarker of treatment response.


Sujet(s)
Maladie de Crohn , Fistule rectale , Adalimumab/usage thérapeutique , Maladie de Crohn/complications , Maladie de Crohn/diagnostic , Maladie de Crohn/traitement médicamenteux , Humains , Infliximab/usage thérapeutique , Projets pilotes , Protéomique , Fistule rectale/traitement médicamenteux , Fistule rectale/étiologie , Résultat thérapeutique , Inhibiteurs du facteur de nécrose tumorale , Facteur de nécrose tumorale alpha
17.
Colorectal Dis ; 24(3): 277-283, 2022 03.
Article de Anglais | MEDLINE | ID: mdl-34741380

RÉSUMÉ

AIM: Total colectomy with ileorectal anastomosis (TC-IRA) is a surgical option for patients with familial adenomatous polyposis (FAP). Regular endoscopic surveillance of the rectum is recommended to prevent rectal cancer. We aimed to document polyp progression in the rectum following TC-IRA and evaluate the role of polypectomy during surveillance. METHOD: Patients with FAP who underwent TC-IRA between 1990 and 2017 were identified. Demographic, endoscopic and genetic data were retrieved. Cumulative rectal adenoma (polyp) counts were obtained, whilst accounting for any polypectomies during the study period. The rate of polyp progression and factors influencing secondary proctectomy were evaluated. RESULTS: One hundred and ninety-nine patients fulfilled our inclusion criteria, of which 44% were male. The median age at colectomy was 19 (range 11-70) years and median preoperative rectal polyp count was 7 (range 0-50). All patients had an APC pathogenic variant, of which 151 (79%) were 5' of the mutation cluster region (MCR), 19 (10%) in the MCR, six (3%) were 3' of the MCR and 15 (8%) had a gross deletion. After a median follow-up of 8.6 (range1-27) years and a median of 11 (range 2-37) flexible sigmoidoscopies per patient, the median rate of polyp progression was 5.5 polyps/year (range 0-70.2). There was no evidence of polyp regression. Eight (4%) patients underwent secondary proctectomy for neoplasia, of which one (0.5%) had rectal adenocarcinoma. A total of 13,527 polyps were removed, a median of 35 polyps/patient (range 0-829). The rate of polyp progression was not significantly associated with genotypic or phenotypic factors. CONCLUSION: Progression of rectal adenoma burden following TC-IRA appears to be slow and dependent on the length of follow-up. In the modern era of stringent endoscopic surveillance and therapeutic procedures such as cold snare polypectomy, the rate of secondary proctectomy and the risk of rectal cancer after TC-IRA are very low. These findings are important when counselling patients with regard to the choice of surgery for FAP and implementing endoscopic surveillance.


Sujet(s)
Adénomes , Polypose adénomateuse colique , Polypes coliques , Tumeurs du rectum , Adénomes/chirurgie , Polypose adénomateuse colique/génétique , Polypose adénomateuse colique/chirurgie , Adolescent , Adulte , Sujet âgé , Anastomose chirurgicale , Enfant , Colectomie , Polypes coliques/chirurgie , Coloscopie , Humains , Iléum/chirurgie , Mâle , Adulte d'âge moyen , Tumeurs du rectum/chirurgie , Rectum/chirurgie , Jeune adulte
18.
Dis Colon Rectum ; 65(4): 529-535, 2022 Apr 01.
Article de Anglais | MEDLINE | ID: mdl-34775416

RÉSUMÉ

BACKGROUND: Attenuated familial adenomatous polyposis is characterised by low number (≤100) and delayed development of colorectal adenomas. Various definitions have been used, and genotype-phenotype correlations have been suggested. OBJECTIVE: We aimed to evaluate phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and assess familial variability. DESIGN: This is a retrospective study. SETTINGS: This study was conducted at a tertiary polyposis registry. PATIENTS: Individuals with attenuated familial adenomatous polyposis were identified. Phenotypic group was defined as 100 or fewer adenomas at age 25 years and genotypic group was defined as a variant in the adenomatous polyposis coli region associated with attenuated familial adenomatous polyposis. Pathology polyp count was used for patients who had undergone surgery and endoscopic polyp count for those with intact colon. MAIN OUTCOME MEASURES: We evaluated phenotypic and genotypic correlation in patients with presumed attenuated familial adenomatous polyposis and familial variability. RESULTS: A total of 69 patients were identified in the phenotypic group, of whom 54 (78%) had a pathogenic variant in the attenuated regions of the adenomatous polyposis coli gene. Forty-eight (70%) had intact colon (median age at last colonoscopy 43 [25-73] years; median endoscopic polyp count 20 [0-100]) and 21 (30%) had undergone colectomy (median age at surgery 45 [25-54] years; median pathology polyp count 43 [3-100]). Eighty-three patients were identified in the genotypic group of which 54 (65%) had attenuated phenotype. Inter- and intrafamilial variability were observed. LIMITATIONS: This study was limited by its retrospective nature and single-center experience. CONCLUSION: Phenotype in familial adenomatous polyposis lies on a spectrum and is determined in part by genotype and age at adenoma count. Diagnosis of attenuated familial adenomatous polyposis should be based on phenotype; genotype is not a reliable indicator. Management should be personalized according to the phenotype of each individual. See Video Abstract at http://links.lww.com/DCR/B775. POLIPOSIS ADENOMATOSA FAMILIAR ATENUADA UN DIAGNSTICO FENOTPICO PERO TRMINO OBSOLETO: ANTECEDENTES:La poliposis adenomatosa familiar atenuada se caracteriza por un número bajo (≤100) y desarrollo retardado de adenomas colorrectales. Se han utilizado varias definiciones y se han sugerido correlaciones genotipo-fenotipo.OBJETIVO:Nuestro objetivo es evaluar la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y evaluar la variabilidad familiar.DISEÑO:Este es un estudio retrospectivo.AJUSTE:Este estudio se realizó en un registro terciario de poliposis.PACIENTES:Se identificaron individuos con poliposis adenomatosa familiar atenuada. El grupo fenotípico se definió como ≤100 adenomas a la edad de 25 años y el grupo genotípico se definió como una variante en la región de poliposis coli adenomatosa asociada con poliposis adenomatosa familiar atenuada. Se utilizó el recuento de pólipos en patología para los pacientes que se habían sometido a cirugía y el recuento de pólipos endoscópico para los que tenían el colon intacto.PRINCIPALES MEDIDAS DE RESULTADO:Evaluamos la correlación fenotípica y genotípica en pacientes con presunta poliposis adenomatosa familiar atenuada y variabilidad familiar.RESULTADOS:Un total de 69 pacientes se identificaron en el grupo fenotípico de los cuales 54 (78%) tenían una variante patogénica en las regiones atenuadas del gen de la poliposis coli adenomatosa. Cuarenta y ocho (70%) tenían colon intacto (edad media en la última colonoscopia 43 [25-73] años; mediana del recuento de pólipos endoscópicos 20 [0-100]) y 21 (30%) se habían sometido a colectomía (edad edia en el momento de la cirugía 45 [25-54] años; mediana del recuento de pólipos patológicos 43 [3-100]). Se identificaron 83 pacientes en el grupo genotípico de los cuales 54 (65%) tenían fenotipo atenuado. Se observó variabilidad inter e intrafamiliar.LIMITACIONES:Este estudio estuvo limitado por su naturaleza retrospectiva y la experiencia de un solo centro.CONCLUSIÓNES:El fenotipo en la poliposis adenomatosa familiar se encuentra en un espectro, determinado en parte por el genotipo y la edad en el momento del recuento de adenomas. El diagnóstico de poliposis adenomatosa familiar atenuada debe basarse en el fenotipo; el genotipo no es un indicador confiable. El manejo debe personalizarse según el fenotipo de cada individuo. Consulte Video Resumen en http://links.lww.com/DCR/B775.


Sujet(s)
Adénomes , Polypose adénomateuse colique , Tumeurs colorectales , Polypose adénomateuse colique/diagnostic , Polypose adénomateuse colique/génétique , Polypose adénomateuse colique/chirurgie , Tumeurs colorectales/anatomopathologie , Humains , Phénotype , Études rétrospectives
20.
Colorectal Dis ; 23(9): 2286-2299, 2021 Sep.
Article de Anglais | MEDLINE | ID: mdl-34166559

RÉSUMÉ

AIM: The continent ileostomy allows evacuation of an ileal reservoir at a time convenient to the patient. It is a surgical option for patients with ulcerative colitis (UC) when a restorative option is not suitable or has not succeeded and the patient does not want a conventional end ileostomy. Continent ileostomy types include the Kock pouch, Barnett continent intestinal reservoir and T-pouch. All of the published evidence on the long-term outcome and quality of life after continent ileostomy for UC was systematically reviewed. METHODS: A systematic review was performed in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies published between 1990 and 2020 were included. A descriptive synthesis was used due to the clinical heterogeneity. RESULTS: The search returned 1655 abstracts and after screening of abstracts and full text review, 19 were included in the final review, involving 1602 patients. Operative mortality is low (0%-3.6%) after all types of continent ileostomy but reoperation rates are high (20.8%-65%) because of valve mechanism failures. Rates of fistulae (0%-25.5%) and stomal stenosis (0%-25%) can be relatively high postoperatively. Quality of life scores improve for most patients undergoing continent ileostomy, especially for patients converted from ileal pouch anal anastomosis. Overall, continent ileostomy retention is high in the long-term. DISCUSSION: In the long-term, patients report high satisfaction and a good quality of life with continent ileostomy, despite high reoperation rates and complications. Newer technologies may reinvigorate interest in the continent ileostomy for this population.


Sujet(s)
Rectocolite hémorragique , Poches coliques , Proctocolectomie restauratrice , Rectocolite hémorragique/chirurgie , Humains , Iléostomie , Qualité de vie
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