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Life (Basel, Switzerland) Oct 2023Crohn's disease is a chronic inflammatory bowel disease that affects the ileum and/or large intestine. At the same time, it can also affect any other part of the human... (Review)
Review
Crohn's disease is a chronic inflammatory bowel disease that affects the ileum and/or large intestine. At the same time, it can also affect any other part of the human body, i.e., from the mouth to the anus. In Crohn's disease, the physiology and functioning of the epithelial barrier are inhibited due to the correlation of various factors, such as the environment, genetic susceptibility or intestinal microbiota. The symptoms are very troublesome and cause a significant reduction in quality of life, sometimes occurring with paralyzing permanent damage to the digestive tract, requiring enteral or parenteral nutrition throughout life. In order to make a proper and accurate diagnosis, an appropriately selected diagnostic path in a given clinical entity is necessary. Standard diagnostic methods are: laboratory examination, histopathological examination, endoscopic examination, X-ray, computed tomography, ultrasound examination and magnetic resonance imaging. Medical biology and the analysis of metalloproteinases have also proved helpful in diagnosing changes occurring as a result of Crohn's disease. Here we provide a thorough review of the latest reports on Crohn's disease and its genetic conditions, symptoms, morphology, diagnosis (including the analysis of Crohn's disease biomarkers, i.e., metalloproteinases) and treatment.
PubMed: 37895443
DOI: 10.3390/life13102062 -
Journal of Crohn's & Colitis Aug 2023Perianal lesion is a refractory phenotype of Crohn's disease [CD] with significantly diminished quality of life. We evaluated the clinical characteristics of perianal...
Diagnosis and Clinical Features of Perianal Lesions in Newly Diagnosed Crohn's Disease: Subgroup Analysis from Inception Cohort Registry Study of Patients with Crohn's Disease (iCREST-CD).
BACKGROUND AND AIMS
Perianal lesion is a refractory phenotype of Crohn's disease [CD] with significantly diminished quality of life. We evaluated the clinical characteristics of perianal lesions in newly diagnosed CD patients and the impact of perianal lesions on the quality of life in Japanese patients with CD.
METHODS
Patients newly diagnosed with CD after June 2016 were included between December 2018 and June 2020 from the Inception Cohort Registry Study of Patients with CD [iCREST-CD].
RESULTS
Perianal lesions were present in 324 [48.2%] of 672 patients with newly diagnosed CD; 71.9% [233/324] were male. The prevalence of perianal lesions was higher in patients aged <40 years vs ≥40 years, and it decreased with age. Perianal fistula [59.9%] and abscess [30.6%] were the most common perianal lesions. In multivariate analyses, male sex, age <40 years and ileocolonic disease location were significantly associated with a high prevalence of perianal lesions, whereas stricturing behaviour and alcohol intake were associated with low prevalence. Fatigue was more frequent [33.3% vs 21.6%] while work productivity and activity impairment-work time missed [36.3% vs 29.5%] and activity impairment [51.9% vs 41.1%] were numerically higher in patients with than those without perianal lesions.
CONCLUSIONS
At the time of CD diagnosis, approximately half of the patients had perianal lesions; perianal abscesses and perianal fistulas were the most common. Young age, male sex, disease location and behaviour were significantly associated with the presence of perianal lesions. The presence of perianal lesion was associated with fatigue and impairment of daily activities.
CLINICAL TRIALS REGISTRY
University Hospital Medical Information Network Clinical Trials Registry System [UMIN-CTR, UMIN000032237].
Topics: Male; Female; Humans; Crohn Disease; Quality of Life; Constriction, Pathologic; Anus Diseases; Abscess; Rectal Fistula; Registries
PubMed: 36869815
DOI: 10.1093/ecco-jcc/jjad038 -
The American Surgeon Dec 2023Giant condyloma acuminata (GCA), or Buschke-Löwenstein tumor, is a rare exophytic cauliflower-like growth in the anogenital region. The spectrum of treatment options is...
Giant condyloma acuminata (GCA), or Buschke-Löwenstein tumor, is a rare exophytic cauliflower-like growth in the anogenital region. The spectrum of treatment options is wide, ranging from the application of topical ointments to the performance of an abdominoperineal resection. Currently, wide local excision is the most common approach and may entail the creation of a protective loop ileostomy or implementation of flaps or grafts that facilitate closure. We describe a unique surgical approach for the management of circumferential GCA void of the use a protective loop ileostomy, flaps, or grafts. Our report highlights that the implementation of a radical, circumferential, wide excision resulting in "free-floating anus" and healing via secondary intention can ultimately lead to excellent functional and cosmetic results and therefore may be considered a minimally invasive surgical option for patients afflicted with a large, circumferential GCA.
Topics: Humans; Buschke-Lowenstein Tumor; Anal Canal; Condylomata Acuminata; Anus Neoplasms; Surgical Flaps; Margins of Excision
PubMed: 37674401
DOI: 10.1177/00031348231199173 -
Case Reports in Dermatology 2024A peculiar spongy appearance of the perianal skin was observed in a patient who underwent wide excision surgery for inguinal and gluteal hidradenitis suppurativa (HS).
INTRODUCTION
A peculiar spongy appearance of the perianal skin was observed in a patient who underwent wide excision surgery for inguinal and gluteal hidradenitis suppurativa (HS).
CASE PRESENTATION
This peculiar appearance was observed in a 62-year-old male patient. It included multiple orifices and cavities forming the spongy aspect of the perianal skin with multiple cysts and giant comedones. The perianal lesions were asymptomatic and the patient had never received any perianal treatment for the comedones or cysts. Histopathology was performed and demonstrated dilated hair follicles with flaky keratin and loose hair shafts in the center. The spongy appearance was most likely the result of spontaneous shedding of the cystic contents.
CONCLUSION
We suspect that the "cystic sponge anus" might be associated with HS, smoking, the male gender, and may yet be another expression of an occlusive follicular disease. Future studies will be needed to clarify the prevalence and comorbidities of the "cystic sponge anus."
PubMed: 38567034
DOI: 10.1159/000536085 -
Journal of the National Cancer Institute Feb 2024In the United States, anal squamous cell carcinoma rates have increased rapidly, particularly among women 50 or older than 66 years of age. As immunosuppression is...
BACKGROUND
In the United States, anal squamous cell carcinoma rates have increased rapidly, particularly among women 50 or older than 66 years of age. As immunosuppression is associated with increased risk, autoimmune conditions may be associated with greater risk of anal squamous cell carcinoma.
METHODS
We conducted a population-based, case-control study using Surveillance, Epidemiology, and End Results-Medicare data (2000-2017). Anal squamous cell carcinoma cases (n = 4505) were matched to 200 000 cancer-free controls. Using multivariable logistic regression, we calculated odds ratios (ORs) and 95% confidence intervals (CIs) for associations between 47 autoimmune conditions diagnosed before selection, identified using Medicare claims, and anal squamous cell carcinoma. The Bonferroni threshold was used to correct for multiple comparisons. Population attributable fractions were calculated for conditions nominally associated with anal squamous cell carcinoma.
RESULTS
In total, 18% of anal squamous cell carcinoma cases and 15% of cancer-free controls had a diagnosed autoimmune condition. Any autoimmune condition was associated with an increased risk of anal squamous cell carcinoma (OR = 1.11, 95% CI = 1.02 to 1.21; population attributable fraction = 1.8%). Anal squamous cell carcinoma was associated with systemic lupus erythematosus (OR = 1.79, 95% CI = 1.32 to 2.42; population attributable fraction = 0.4%) and nominally associated (P < .05) with sarcoidosis (OR = 2.09, 95% CI = 1.30 to 3.37; population-attributable fraction = 0.2%) and psoriasis (OR = 1.28, 95% CI = 1.06 to 1.56; population attributable fraction = 0.5%). Stratified by sex, only women showed statistically significant associations for systemic lupus erythematosus (OR = 1.97, 95% CI = 1.46 to 2.68). Statistically significant interaction was observed by sex for psoriasis (men vs women: OR = 1.68 [95% CI = 1.03 to 4.28] vs OR = 1.12 [95% CI = 0.88 to 1.43]) and polymyalgia rheumatica (OR = 0.33 [95% CI = 0.12 to 0.89] vs OR = 0.99 [95% CI = 0.75 to 1.30]).
CONCLUSION
Systemic lupus erythematosus, sarcoidosis, and psoriasis were associated with a moderately increased risk of anal squamous cell carcinoma. Given these conditions' rarity and moderate associations with anal squamous cell carcinoma, autoimmune diseases cannot explain the rising trend in this disease.
Topics: Male; Humans; Aged; Female; United States; Case-Control Studies; Medicare; Autoimmune Diseases; Lupus Erythematosus, Systemic; Sarcoidosis; Carcinoma, Squamous Cell; Anus Neoplasms; Psoriasis
PubMed: 37701981
DOI: 10.1093/jnci/djad187 -
Langenbeck's Archives of Surgery Nov 2023Many pouch complications following ileoanal pouch surgery have an inflammatory or mechanical nature, and specialist colorectal surgeons are required to assess the...
INTRODUCTION
Many pouch complications following ileoanal pouch surgery have an inflammatory or mechanical nature, and specialist colorectal surgeons are required to assess the anatomy of the ileoanal pouch in multiple settings. In this study, we report our stepwise clinical and endoscopic assessment of the patient with an ileoanal pouch.
METHODS
The most common configuration of the ileoanal pouch is a J-pouch, and the stapled anastomosis is more frequently performed than a handsewn post-mucosectomy. A structured clinical and endoscopic assessment of the ileoanal pouch must provide information on 7 critical areas: anus and perineum, rectal cuff, pouch anal anastomosis, pouch body, blind end of the pouch, pouch inlet and pre-pouch ileum.
RESULTS
We have developed a structured pro forma for step-wise assessment of the ileoanal pouch, according to 7 essential areas to be evaluated, biopsied and reported. The structured assessment of the ileoanal pouch in 102 patients allowed reporting of abnormal findings in 63 (61.7%). Strictures were diagnosed in 27 patients (26.4%), 3 pouch inlet strictures, 21 pouch anal anastomosis strictures, and 3 pre-pouch ileum strictures. Chronic, recurrent pouchitis was diagnosed in 9 patients, whilst 1 patient had Crohn's disease of the pouch.
CONCLUSIONS
Detailed clinical history, assessment of symptoms and multidisciplinary input are all essential for the care of patients with an ileoanal pouch. We present a comprehensive reporting pro forma for initial clinical assessment of the patient with an ileoanal pouch, with the aim to guide further investigations and inform multidisciplinary decision-making.
Topics: Humans; Proctocolectomy, Restorative; Colitis, Ulcerative; Constriction, Pathologic; Colonic Pouches; Anastomosis, Surgical; Colorectal Neoplasms; Surgeons
PubMed: 37910244
DOI: 10.1007/s00423-023-03151-5 -
Journal of the Anus, Rectum and Colon 2023Cowden syndrome (CS)/ hamartoma tumor syndrome (PHTS) is a rare autosomal dominantly inherited condition caused by germline pathogenesis. It is associated with multiple... (Review)
Review
Cowden syndrome (CS)/ hamartoma tumor syndrome (PHTS) is a rare autosomal dominantly inherited condition caused by germline pathogenesis. It is associated with multiple hamartomatous lesions occurring in various organs and tissues, including the gastrointestinal tract, skin, mucous membranes, breast, thyroid, endometrium, and brain. Macrocephaly or multiple characteristic mucocutaneous lesions commonly develop in individuals in their 20s. This syndrome is occasionally diagnosed in childhood due to the occurrence of multiple gastrointestinal polyps, autism spectrum disorders, and intellectual disability. CS/PHTS can be diagnosed taking the opportunity of multigene panel testing in patients with cancer. Appropriate surveillance for early diagnosis of associated cancers is required because patients have a high risk of cancers including breast, thyroid, colorectal, endometrial, and renal cancers. Under these circumstances, there is growing concern regarding the management of CS/PHTS in Japan, but there are no available practice guidelines. To address this situation, the guideline committee, which included specialists from multiple academic societies, was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labour, and Welfare, Japan. The present clinical guidelines explain the principles in the diagnosis and management of CS/PHTS, together with four clinical questions and the corresponding recommendations, incorporating the concept of the Grading of Recommendations Assessment, Development, and Evaluation system. Herein, we present an English version of the guideline, some of which have been updated, to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with CS/PHTS.
PubMed: 37900693
DOI: 10.23922/jarc.2023-028 -
Radiotherapy and Oncology : Journal of... Sep 2023Standard treatment of squamous cell carcinoma of the anus (SCCA)is 5-fluorouracil (5FU) and mitomycin C (MMC) based chemoradiotherapy (CRT). This phase II study...
BACKGROUND AND PURPOSE
Standard treatment of squamous cell carcinoma of the anus (SCCA)is 5-fluorouracil (5FU) and mitomycin C (MMC) based chemoradiotherapy (CRT). This phase II study (EudraCT: 2011-005436-26) assessed the tolerance and complete response (CR) rate at 8 weeks of panitumumab (Pmab) combined with MMC-5FU-based CRT.
METHODS
Patients with locally advanced tumors without metastases (T2 > 3 cm, T3-T4, or N + whatever T stage) were treated with IMRT up to 65 Gy and concomitant CT according to the doses defined by a previous phase I study (MMC: 10 mg/m; 5FU: 400 mg/m; Pmab: 3 mg/kg). The expected CR rate was 80%.
RESULTS
Forty-five patients (male: 9, female: 36; median age: 60.1 [41.5-81]) were enrolled in 15 French centers. The most common related grade 3-4 toxicities observed were digestive (51.1%), hematologic (lymphopenia: 73.4%; neutropenia: 11.1%), radiation dermatitis (13.3%), and asthenia (11.1%) with RT interruption in 14 patients. One patient died because of mesenteric ischemia during the CRT, possibly related to treatment. In ITT analysis, the CR rate at 8 weeks after CRT was 66.7% [90%CI: 53.4-78.2]. Median follow-up was 43.6 months [IC 95%: 38.61-47.01]. Overall survival, recurrence-free and colostomy-free survival at 3 years were 80% [95%CI: 65.1-89], 62.2% [IC95%: 46.5-74.6] and 68.8 % [IC95%: 53.1-80.2] respectively.
CONCLUSION
Panitumumab in combination with CRT for locally advanced SCCA failed to meet the expected CR rate and exhibited a poor tolerance. Furthermore, late RFS, CFS, and OS did not suggest any outcome improvement to justify further clinical trials.
CLINICALTRIALS
gov identifier: NCT01581840.
Topics: Humans; Male; Female; Middle Aged; Anal Canal; Panitumumab; Anus Neoplasms; Chemoradiotherapy; Fluorouracil; Mitomycin; Antineoplastic Combined Chemotherapy Protocols; Cisplatin
PubMed: 37315583
DOI: 10.1016/j.radonc.2023.109742 -
Journal of Clinical Virology : the... Jul 2023Human papillomavirus associated anogenital cancers are a significant global burden. The detection of biomarkers (circulating tumour DNA; ctDNA or circulating HPV DNA;... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Human papillomavirus associated anogenital cancers are a significant global burden. The detection of biomarkers (circulating tumour DNA; ctDNA or circulating HPV DNA; cHPV DNA) in blood referred to as "liquid biopsy" may support the early diagnosis and monitoring of affected individuals.
METHODS
A systematic review, including meta-analysis of studies available in the literature on the utilization of ctDNA and cHPV DNA as diagnostic, predictive, and monitoring biomarker tests of HPV associated anogenital cancers was performed following the criteria of PRISMA.
RESULTS
A total of 31 studies were eligible for systematic review; 20 used cHPV DNA in cervical cancers; 7 used ctDNA in cervical cancer; 5 used cHPV DNA in anal cancer; no eligible studies on vulva, vaginal or penile cancer were available. The meta-analysis identified low sensitivity (0.36) and high specificity (0.96) of cHPV DNA as diagnostic for cervical cancer. Comparatively, there was high sensitivity (0.95) and specificity (1.0) of cHPV DNA for the diagnosis of anal cancer. cHPV DNA and/or ctDNA in cervical cancer were prognostic markers associated with poor clinical outcomes. Additionally, in anal cancer the post treatment detection of cHPV DNA was informative in the prediction of treatment response or progression-free survival.
CONCLUSION
ctDNA and cHPV DNA are promising diagnostic and prognostic biomarkers for the detection of anogenital disease. Evolution and refinement of molecular tools is likely to improve performance further. Additionally the comparative absence of studies in the vulval, vaginal and penile context warrants further exploration and research.
Topics: Female; Humans; Uterine Cervical Neoplasms; Papillomavirus Infections; Human Papillomavirus Viruses; Anus Neoplasms; DNA
PubMed: 37163963
DOI: 10.1016/j.jcv.2023.105469 -
Frontiers in Oncology 2023Colorectal cancer (CRC) is a globally significant health concern, necessitating effective preventive strategies through identifying modifiable risk factors....
BACKGROUND
Colorectal cancer (CRC) is a globally significant health concern, necessitating effective preventive strategies through identifying modifiable risk factors. Constipation, characterized by infrequent bowel movements or difficulty passing stools, has been proposed as a potential CRC risk factor. However, establishing causal links between constipation and CRC remains challenging due to observational study limitations.
METHODS
Mendelian randomization (MR) utilizes genetic variants as instrumental variables, capitalizing on genetically determined variation to assess causal relationships. In this dual-sample bidirectional MR study, we extracted genetic data from independent cohorts with CRC (Include colon cancer and rectal cancer) and constipation cases. Genome-wide association studies (GWAS) identified constipation and CRC-associated genetic variants used as instruments to infer causality. The bidirectional MR analysis evaluated constipation's impact on CRC risk and the possibility of reverse causation.
RESULTS
Employing bidirectional MR, we explored the causal relationship between constipation and CRC using publicly available GWAS data. Analysis of constipation's effect on CRC identified 26 significant SNPs, all with strong instrumental validity. IVW-random effect analysis suggested a potential causal link [ = 1.002(1.000, 1.004); = 0.023], although alternative MR approaches were inconclusive. Investigating CRC's impact on constipation, 28 significant SNPs were identified, yet IVW analyses found no causal effect [ = 0.137(0.007, 2.824); = 0.198]. Other MR methods also yielded no significant causal association. We analyzed constipation separately from colon and rectal cancer using the same methodology in both directions, and no causal relationship was obtained.
CONCLUSION
Our bidirectional MR study suggests a potential constipation-CRC link, with mixed MR approach outcomes. Limited evidence supports constipation causing CRC. Reliable instruments, minimal heterogeneity, and robust analyses bolster these findings, enriching understanding. Future research should explore additional factors to enhance comprehension and clinical implications.
PubMed: 38044987
DOI: 10.3389/fonc.2023.1282066