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Revista Espanola de Enfermedades... Jun 2024Cap polyposis is a rare disease characterized by the presence of inflammatory polyps with an adherent fibrin sheath ("cap"), in variable number and size, in the rectum...
Cap polyposis is a rare disease characterized by the presence of inflammatory polyps with an adherent fibrin sheath ("cap"), in variable number and size, in the rectum and sigmoid. It presents with tenesmus, mucous stools and rectorrhagia. There is currently no standardized treatment, having been treated empirically with aminosalicylates, oral or rectal steroids, metronidazole, H. pylori eradication therapy and infliximab with variable results. In refractory cases, endoscopic resection of polyps may be used and surgery may even be necessary. We present the case of a 36-year-old patient diagnosed in our center with cap polyposis, refractory to both pharmacological and endoscopic treatment, and therefore treatment with infliximab was decided out of indication. The case we present is the fourth case of cap polyposis treated with infliximab available in the current literature and highlights the difficulty of achieving a clinical response with pharmacological treatment, including biologic drugs such as infliximab.
PubMed: 38873995
DOI: 10.17235/reed.2024.10297/2024 -
Frontiers in Pediatrics 2024Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The...
BACKGROUND
Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus.
CASE PRESENTATION
We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.
CONCLUSION
Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.
PubMed: 38873586
DOI: 10.3389/fped.2024.1345265 -
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 -
United European Gastroenterology Journal Jun 2024
PubMed: 38850203
DOI: 10.1002/ueg2.12608 -
Digestive and Liver Disease : Official... Jun 2024Management of ampullary tumors (AT) is challenging because of a low level of scientific evidence. This document is a summary of the French intergroup guidelines...
Ampullary tumors: French Intergroup Clinical Practice Guidelines for diagnosis, treatments and follow-up (TNCD, SNFGE, FFCD, UNICANCER, GERCOR, SFCD, SFED, ACHBT, AFC, SFRO, RENAPE, SNFCP, AFEF, SFP, SFR).
BACKGROUND
Management of ampullary tumors (AT) is challenging because of a low level of scientific evidence. This document is a summary of the French intergroup guidelines regarding the management of AT, either adenoma (AA) or carcinoma (AC), published in July 2023, available on the website of the French Society of Gastroenterology (SNFGE) (www.tncd.org).
METHODS
A collaborative work was conducted under the auspices of French medical, endoscopic, oncological and surgical societies involved in the management of AT. Recommendations are based on recent literature review and expert opinions and graded in three categories (A, B, C), according to quality of evidence.
RESULTS
Accurate diagnosis of AT requires at least duodenoscopy and EUS. All patients should be discussed in multidisciplinary tumor board before treatment. Surveillance may only be proposed for small AA in familial adenomatous polyposis. For AA, endoscopic papillectomy is the preferred option only if R0 resection can be achieved. When not possible, surgical papillectomy should be considered. For AC beyond pT1a N0, pancreaticoduodenectomy is the procedure of choice. Adjuvant monochemotherapy (gemcitabine, 5FU) may be proposed. For aggressive tumors (pT3/T4, pN+, R1, poorly differentiated AC, pancreatobiliary differentiation) with high risk of recurrence, 6 months polychemotherapy (CAPOX/FOLFOX for the intestinal subtype and mFOLFIRINOX for the pancreatobiliary or the mixed subtype) may be a valid alternative. Clinical and radiological follow up is recommended for 5 years.
CONCLUSIONS
These guidelines help to homogenize and highlight unmet needs in the management of AA and AC. Each individual case should be discussed by a multidisciplinary team.
PubMed: 38845233
DOI: 10.1016/j.dld.2024.04.027 -
Clinical Case Reports Jun 2024We present a case of Cronkhite-Canada syndrome in a patient with decompensated cirrhosis who had successful induction of remission with nutritional supplementation...
We present a case of Cronkhite-Canada syndrome in a patient with decompensated cirrhosis who had successful induction of remission with nutritional supplementation alone. We propose that early institution of high-protein, high-energy enteral supplementation should be offered to all patients, especially those with compelling contraindications to immunosuppression.
PubMed: 38836109
DOI: 10.1002/ccr3.8985 -
Asia Pacific Allergy Jun 2024Chronic rhinosinusitis with nasal polyps (CRSwNP) is a chronic inflammatory condition of the nasal and paranasal tissues, characterized by the presence of bilateral... (Review)
Review
Chronic rhinosinusitis with nasal polyps (CRSwNP) is a chronic inflammatory condition of the nasal and paranasal tissues, characterized by the presence of bilateral nasal polyps. An expert panel of specialists from the Asian-Pacific region and Russia was convened to develop regional guidance on the management of CRSwNP through a consensus approach. The present article presents the chief observations and recommendations from this panel to provide guidance for clinicians in these areas. Etiology and pathogenetic mechanisms in CRSwNP are heterogeneous and complex. In many patients, CRSwNP is primarily driven by type 2 inflammation, although this may be less important in Asian populations. Frequent comorbidities include asthma and other inflammatory diseases such as non-steroidal anti-inflammatory drug (NSAID)/aspirin-exacerbated respiratory disease or atopic dermatitis. Clinical management of CRSwNP is challenging, and a multidisciplinary approach to evaluation and treatment is recommended. While many patients respond to medical treatment (topical irrigation and intranasal corticosteroids, and adjunctive short-term use of systemic corticosteroids), those with more severe/uncontrolled disease usually require endoscopic sinus surgery (ESS), although outcomes can be unsatisfactory, requiring revision surgery. Biological therapies targeting underlying type 2 inflammation offer additional, effective treatment options in uncontrolled disease, either as an alternative to ESS or for those patients with persistent symptoms despite ESS.
PubMed: 38827258
DOI: 10.5415/apallergy.0000000000000139 -
Cureus May 2024The adenomatous lesions, which could be benign or malignant, have been described in the duodenum and along the duodenal ampulla in individuals with familial adenomatous...
The adenomatous lesions, which could be benign or malignant, have been described in the duodenum and along the duodenal ampulla in individuals with familial adenomatous polyposis (FAP) post-colectomy, along with other extracolonic manifestations. To our best knowledge, we present a unique case of the involvement of the accessory duodenal ampulla in a patient who had undergone colectomy with ileorectal anastomosis with an established diagnosis of FAP. During the endoscopic examination, the patient was found to have adenomatous growth in the accessory duodenal ampulla, which was successfully removed via endoscopic retrograde cholangiopancreatography (ERCP). To prevent pancreatitis, a temporary plastic stent was inserted and successfully removed three weeks later.
PubMed: 38826909
DOI: 10.7759/cureus.59445 -
PloS One 2024Multiple inflammatory mechanisms dynamically interact in the development of chronic rhinosinusitis with nasal polyps (CRSwNP). Disruption of the relationship between...
OBJECTIVE
Multiple inflammatory mechanisms dynamically interact in the development of chronic rhinosinusitis with nasal polyps (CRSwNP). Disruption of the relationship between host and environmental factors on the mucosal surface leads to the development of inflammation. Microorganisms constitute the most important part of environmental factors.
METHODS
28 volunteers (18 CRSwNP patients and 10 healthy individuals) were included in the study. Eight patients were recurrent nasal polyposis cases, and the remaining were primary cases. Swab samples were taken from the middle meatus under endoscopic examination from all participants. After DNA extraction, a library was created with the Swift Amplicon 16S + ITS kit and sequenced with Illumina Miseq. Sequence analysis was performed using QIIME, UNITE v8.2 database for ITS and Silva v138 for 16S rRNA.
RESULTS
The predominant bacteria in all groups were Firmicutes, Proteobacteria, Actinobacteria as phyla and Staphylococcus, Corynebacterium, Sphingomonas as genera. Comparison of bacterial communities of CRSwNP patients and control group highlighted Corynebacterium, as the differentiating taxa for control group and Streptococcus, Moraxella, Rothia, Micrococcus, Gemella, and Prevotella for CRSwNP patients. The predominant fungal genus in all groups was Malassezia. Staphylococcus; showed a statistically significant negative correlation with Dolosigranulum. Corynebacterium had a positive correlation with Anaerococcus, and a negative correlation with Neisseria, Prevotella, Fusobacterium and Peptostreptococcus.
CONCLUSION
Nasal microbiome of CRSwNP patients shows greater inter-individual variation than the control group. Corynebacterium is less abundant in patients with CRSwNP compared to the control group. Malassezia is the predominant fungus in the nasal cavity and paranasal sinuses and correlates positively with the abundance of Corynebacterium.
Topics: Humans; Sinusitis; Nasal Polyps; Female; Male; Adult; Chronic Disease; Middle Aged; Bacteria; Rhinitis; Fungi; RNA, Ribosomal, 16S; Microbiota; Case-Control Studies; Rhinosinusitis
PubMed: 38820284
DOI: 10.1371/journal.pone.0304634 -
Journal of Medical Genetics May 2024
PubMed: 38816194
DOI: 10.1136/jmg-2024-109910