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World Journal of Gastrointestinal... Jun 2023The distal-less homeobox () gene family plays an important role in the development of several tumors. However, the expression pattern, prognostic and diagnostic value,...
BACKGROUND
The distal-less homeobox () gene family plays an important role in the development of several tumors. However, the expression pattern, prognostic and diagnostic value, possible regulatory mechanisms, and the relationship between family genes and immune infiltration in colon cancer have not been systematically reported.
AIM
We aimed to comprehensively analyze the biological role of the gene family in the pathogenesis of colon cancer.
METHODS
Colon cancer tissue and normal colon tissue samples were collected from the Cancer Genome Atlas and Gene Expression Omnibus databases. Wilcoxon rank sum test and -test were used to assess gene family expression between colon cancer tissue and unpaired normal colon tissue. cBioPortal was used to analyze gene family variants. R software was used to analyze gene expression in colon cancer and the relationship between gene family expression and clinical features and correlation heat map. The survival package and Cox regression module were used to assess the prognostic value of the gene family. The pROC package was used to analyze the diagnostic value of the gene family. R software was used to analyze the possible regulatory mechanisms of gene family members and related genes. The GSVA package was used to analyze the relationship between the gene family and immune infiltration. The ggplot2, the survminer package, and the clusterProfiler package were used for visualization.
RESULTS
were significantly aberrantly expressed in colon cancer patients. The expression of genes were associated with M stage, pathologic stage, primary therapy outcome, residual tumor, lymphatic invasion, T stage, N stage, age, perineural invasion, and history of colon polyps. was independently correlated with the prognosis of colon cancer in multivariate analysis. were involved in the development and progression of colon cancer by participating in immune infiltration and associated pathways, including the Hippo signaling pathway, the Wnt signaling pathway, several signaling pathways regulating the pluripotency of stem cells, and infection.
CONCLUSION
The results of this study suggest a possible role for the gene family as potential diagnostic or prognostic biomarkers and therapeutic targets in colon cancer.
PubMed: 37389108
DOI: 10.4251/wjgo.v15.i6.1019 -
Sexually Transmitted Infections Sep 2022Anorectal infections with (CT) are common in women visiting STI outpatient clinics. We here evaluated the risk posed by sexual exposure and by alternate anatomical site... (Observational Study)
Observational Study
BACKGROUND
Anorectal infections with (CT) are common in women visiting STI outpatient clinics. We here evaluated the risk posed by sexual exposure and by alternate anatomical site infection for incident anorectal and urogenital CT.
METHODS
Prospective multicentre cohort study, FemCure. Participants were treated for CT, and after 4, 6, 8, 10 and 12 weeks, they self-collected anorectal and urogenital samples (swabs) for CT-DNA testing. We calculated the proportion with incident CT, that is, CT incidence (at weeks 6-12) by 2-week time-periods. Compared with no exposure (A), we estimated the risk of incident CT for (B) sexual exposure, (C) alternate site anatomic site infection and (D) both, adjusted for confounders and expressed as adjusted ORs with 95% CIs.
RESULTS
We analysed data of 385 participants contributing 1540 2-week periods. The anorectal CT incidence was 2.9% (39/1343) (95 CI 1.8 to 3.6); 1.3% (A), 1.3% (B), 27.8% (C) and 36.7% (D). The ORs were: 0.91 (95% CI 0.32 to 2.60) (B), 26.0 (95% CI 7.16 to 94.34) (C), 44.26 (95% CI 14.38 to 136.21) (D).The urogenital CT incidence was 3.3% (47/1428) (95% CI 2.4 to 4.4); 0.7% (A), 1.9% (B), 13.9% (C) and 25.4% (D). The ORs were: 2.73 (95% CI 0.87 to 8.61) (B), 21.77 (95% CI 6.70 to 70 71) (C) and 49.66 (95% CI 15.37 to 160.41) (D).
CONCLUSIONS
After initial treatment, an alternate anatomical site CT infection increased the risk for an incident CT in women, especially when also sex was reported. This may suggest a key role for autoinoculation in the re-establishment or persistence of urogenital and anorectal chlamydia infections.
Topics: Chlamydia Infections; Chlamydia trachomatis; Cohort Studies; Female; Gonorrhea; Humans; Prospective Studies; Sexual Behavior
PubMed: 35039435
DOI: 10.1136/sextrans-2021-055032 -
Clinical Microbiology and Infection :... Mar 2023Monkeypox, a zoonotic orthopoxvirus, has spread to many countries in recent months, involving mostly men who have sex with men with multiple partners. Clinical...
OBJECTIVES
Monkeypox, a zoonotic orthopoxvirus, has spread to many countries in recent months, involving mostly men who have sex with men with multiple partners. Clinical presentation includes skin lesions, systemic signs, and less frequent skin superinfections or anorectal and ophthalmic involvements. We aim to detail cases of myocarditis attributable to monkeypox, an entity that has been poorly described.
METHODS
This is a descriptive case series reporting three cases of myocarditis that occurred in patients infected with monkeypox in France in 2022.
RESULTS
Patients were adult men with no medical history who had skin lesions with positive polymerase chain reaction for monkeypox virus. A few days after the onset of cutaneous signs, patients developed acute chest pain, elevated cardiac markers, and biological inflammatory syndrome compatible with myocarditis. Two patients presented electrocardiogram abnormalities and decreased ejection fraction associated with kinetic disturbances on transthoracic electrocardiography. The last patient had normal transthoracic electrocardiography and normal electrocardiogram, but cardiac magnetic resonance imaging showed segmental inferolateral acute myocarditis. Patients were hospitalized and received cardioprotective treatment. One received antiviral treatment with tecovirimat. Symptoms and laboratory abnormalities rapidly resolved in all patients.
DISCUSSION
These cases suggest an association between monkeypox infections and cardiac inflammatory complications. The development of chest pain in an infected patient should not be underestimated and should lead to prompt investigations for myocarditis. Monkeypox infection should also be included in the differential diagnosis of myocarditis, particularly in at-risk patients such as men who have sex with men with multiple partners in whom complete examination for skin or mucosal lesions should thus be performed.
Topics: Adult; Male; Humans; Female; Myocarditis; Mpox (monkeypox); Homosexuality, Male; Sexual and Gender Minorities; Chest Pain
PubMed: 36509373
DOI: 10.1016/j.cmi.2022.12.001 -
Frontiers in Immunology 2023Epidemiological studies have revealed a link between inflammatory bowel disease (IBD) and hidradenitis suppurativa (HS). To determine whether IBD and HS are causally...
BACKGROUND
Epidemiological studies have revealed a link between inflammatory bowel disease (IBD) and hidradenitis suppurativa (HS). To determine whether IBD and HS are causally related, we used the Mendelian randomization (MR) approach.
METHODS
A two-sample MR was performed using an analysis of 12,882 patients and 21,770 controls with IBD and its main subtypes, ulcerative colitis (UC) and Crohn's disease (CD). A total of 409 cases and 211,139 controls without hidradenitis suppurativa (HS) were included in the data for this condition from various GWAS investigations. Odds ratios (ORs) with 95% confidence intervals (CIs) are used to estimate causal effects.
RESULTS
The study assessed the causal relationship between HS and IBD in both directions. The risk of HS was increased by IBD (IVW OR = 1.34, 95% CI = 1.20-1.49, = 2.15E-07) and, in addition, HS was affected by UC (IVW OR = 1.27, 95% CI = 1.13-1.43, = 8.97E-04) and CD (IVW OR = 1.18, 95% CI = 1.08-1.29, = 4.15E-04). However, there was no evidence of a causal relationship between HS and IBD or its subtypes (IBD IVW OR = 1.00, 95% CI = 0.96-1.05, = 0.85; UC IVW OR = 0.99, 95% CI = 0.95-1.03, = 0.65; CD IVW OR = 1.03, 95% CI = 0.98- 1.07, = 0.28).
CONCLUSION
This study demonstrates that IBD and its subtypes have a causal effect on HS, whereas HS does not affect IBD. Gut-skin axis interactions may help to understand this association. Nevertheless, further studies are needed to clarify the pathophysiology of the causal relationship between IBD and HS.
Topics: Humans; Hidradenitis Suppurativa; Mendelian Randomization Analysis; Inflammatory Bowel Diseases; Crohn Disease; Colitis, Ulcerative
PubMed: 36776852
DOI: 10.3389/fimmu.2023.1071616 -
Journal of Indian Association of... 2020Anterior sagittal anorectoplasty (ASARP) is accepted as one of the techniques for the repair of vestibular fistula (VF) and low-type anomalies, but some may have...
CONTEXT
Anterior sagittal anorectoplasty (ASARP) is accepted as one of the techniques for the repair of vestibular fistula (VF) and low-type anomalies, but some may have reservations.
AIMS
The aim of the study is to describe the technique, important features, and functional and cosmetic outcomes of ASARP for the treatment of anorectal malformation (ARM) in females.
SETTINGS AND DESIGN
A prospective study was performed from 1992 to 2017.
MATERIALS AND METHODS
The study included 157 pediatric patients (aged 1-15 years) with diagnosis of ARMs with VF, perineal fistula (perineal ectopic anus), and rectovaginal fistula managed by ASARP.
RESULTS
Most cases (36.94%) were 1-6 months' age group; 92.99% of patients (146) were having VF, 5.09% (8) perineal fistula, and 1.91% (3) rectovaginal fistula. Associated anomalies (37) were present in 19.75% (31) of patients. Primary ASARP was performed in 85.35% (134) of cases. The mean operative time was 105 (±15) min. Intraoperative complications were seen in 3.82% (6) of patients. Early postoperative complications were seen in 5.09% (8) of patients - wound infection (4), wound dehiscence (3), and retraction of the rectum (1). Late complications were seen in 12.73% (20) of cases. Overall, five patients developed anal stenosis, two responded to dilatation therapy, and three required anoplasty. The external appearance of the perineum after the 3 month (postoperatively) was satisfactory in 95.54% (150); overall, 4.46% (7) of patients required the second procedure. Stooling pattern could be assessed in 80.25% (126) of patients at 3 years' age group. Only one had poor outcome with severe soiling (incontinence) and perineal excoriation that also had myelomeningocele.
CONCLUSIONS
ASARP is an excellent procedure for VF as it results in optimal correction with minimal sphincteric damage, without additional complexity or difficulties. Primary ASARP is a quick and effective technique and does not require colostomy if performed after due preoperative gut preparation and by an experienced pediatric surgeon.
PubMed: 32581439
DOI: 10.4103/jiaps.JIAPS_28_19 -
Annals of Gastroenterology 2023The incidence of sexually transmitted infections (STI) is rising, especially in high-risk groups, namely people living with human immunodeficiency virus (HIV), men who... (Review)
Review
The incidence of sexually transmitted infections (STI) is rising, especially in high-risk groups, namely people living with human immunodeficiency virus (HIV), men who have sex with men, and people with multiple sexual partners. Additionally, the growing availability and use of pre-exposure prophylaxis to prevent HIV infection appears to be associated with an increased risk of infection by venereal agents. The correct recognition of these infections is crucial, not only for individual patients, but also in terms of public health. Furthermore, a diligent diagnostic assessment is key for an efficient therapeutic approach. Infectious proctitis (IP) predominantly occurs in individuals with a history of receptive anal exposure, being a frequent cause for referral to a gastroenterology specialist. The most frequently identified agents are , , Herpes simplex virus, and . This paper aims to provide a practice-oriented and up-to-date review regarding the diagnostic and therapeutic approaches to patients with suspected IP. The authors reviewed the most important issues in terms of clinical history, physical examination, and specific diagnostic and therapeutic methods. It is also highlighted the most important topics regarding vaccination, screening for other STIs and differential diagnosis with inflammatory bowel disease. Identification of high-risk groups, screening of potential STIs, and notification of diagnosed anorectal diseases are extremely important and essential to prevent transmission and other complications.
PubMed: 37144018
DOI: 10.20524/aog.2023.0799 -
Pediatric Surgery International Dec 2022Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This...
PURPOSE
Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM.
METHODS
This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022. Self-reported health and functional outcomes were summarized, and differences based on type of condition were compared.
RESULTS
Sixty-seven patients completed the questionnaire (response rate: 59.1%), of which 17.9% (12) had HD and 82.1% (55) had an ARM. Rates of urinary incontinence and stress urinary incontinence were 16.4% (11) and 4.5% (3), respectively. On sub-analysis of patients with ARM, patients with sacral ratio (SR) of 0.4-0.69 reported higher UTI rates compared to those with SR ≥ 0.7 (57.9 vs 25.8%, p = 0.023). Renal failure rates were highest among patients with recto-bladder neck fistulas (66.0%, p = 0.012).
CONCLUSION
Patients with HD and ARM report a variety of urological sequelae in adulthood. Outcomes appear to be more common in patients with ARM and may be impacted by both anatomy and sacral ratios. Transitional care to monitor and manage renal and urological function is imperative.
Topics: Adult; Humans; Male; Prospective Studies; Anorectal Malformations; Hirschsprung Disease; Patient Reported Outcome Measures; Urinary Bladder Fistula; Colorectal Neoplasms
PubMed: 36151341
DOI: 10.1007/s00383-022-05215-x -
Frontiers in Immunology 2023Squamous cell carcinoma of the anus (SCCA) is a rare gastrointestinal cancer. Factors associated with progression of HPV infection to anal dysplasia and cancer are...
BACKGROUND
Squamous cell carcinoma of the anus (SCCA) is a rare gastrointestinal cancer. Factors associated with progression of HPV infection to anal dysplasia and cancer are unclear and screening guidelines and approaches for anal dysplasia are less clear than for cervical dysplasia. One potential contributing factor is the anorectal microbiome. In this study, we aimed to identify differences in anal microbiome composition in the settings of HPV infection, anal dysplasia, and anal cancer in this rare disease.
METHODS
Patients were enrolled in two prospective studies. Patients with anal dysplasia were part of a cross-sectional cohort that enrolled women with high-grade lower genital tract dysplasia. Anorectal tumor swabs were prospectively collected from patients with biopsy-confirmed locally advanced SCCA prior to receiving standard-of-care chemoradiotherapy (CRT). Patients with high-grade lower genital tract dysplasia without anal dysplasia were considered high-risk (HR Normal). 16S V4 rRNA Microbiome sequencing was performed for anal swabs. Alpha and Beta Diversity and composition were compared for HR Normal, anal dysplasia, and anal cancer.
RESULTS
60 patients with high-grade lower genital tract dysplasia were initially enrolled. Seven patients had concurrent anal dysplasia and 44 patients were considered HR Normal. Anorectal swabs from 21 patients with localized SCCA were included, sequenced, and analyzed in the study. Analysis of weighted and unweighted UniFrac distances demonstrated significant differences in microbial community composition between anal cancer and HR normal (p0.018). LEfSe identified that all three groups exhibited differential enrichment of specific taxa. (p=0.028), (p=0.0295) (p=0.034) (p=0.029) were enriched in anal cancer specimens when compared to HR normal.
CONCLUSION
Although alpha diversity was similar between HR Normal, dysplasia and cancer patients, composition differed significantly between the three groups. Increased anorectal , , and abundance were associated with anal cancer. These organisms have been reported in various gastrointestinal cancers with roles in facilitating the proinflammatory microenvironment and neoplasia progression. Future work should investigate a potential role of microbiome analysis in screening for anal dysplasia and investigation into potential mechanisms of how these microbial imbalances influence the immune system and anal carcinogenesis.
Topics: Humans; Female; Papillomavirus Infections; Prospective Studies; Cross-Sectional Studies; Anus Neoplasms; Carcinoma, Squamous Cell; Microbiota; Tumor Microenvironment
PubMed: 37063829
DOI: 10.3389/fimmu.2023.1051431 -
BMJ Open Mar 2023Screening for (CT) and (NG) at both urogenital and extragenital sites has been recommended in many countries. Testing of the infections using pooled specimens from...
OBJECTIVES
Screening for (CT) and (NG) at both urogenital and extragenital sites has been recommended in many countries. Testing of the infections using pooled specimens from urogenital and extragenital sites offer the opportunity to shorten the testing time and reduce the testing cost. Ex-ante pooling is placing the original single-site specimens in a tube with transport media, while ex-post pooling is making a pool of the transport media from both anorectal and oropharyngeal specimens and the urine. This study aimed to conduct a multisite performance evaluation of two pool-specimen approaches (ex-ante and ex-post) in detection of CT and NG using the Cobas 4800 platform among men who have sex with men (MSM) in China.
DESIGN
Diagnostic accuracy study.
SETTING, PARTICIPANTS AND OUTCOME MEASURES
Participants were recruited from MSM communities at six cities in China. Two oropharyngeal and anorectal swabs collected by clinical staff and 20 mL first-void urine collected by the participant himself were used for evaluating sensitivity and specificity.
RESULTS
A total of 1311 specimens were collected from 437 participants in six cities. The sensitivities of ex-ante pooling approach as compared with single-specimen approach (reference standard) were 98.7% (95% CI, 92.7% to 100.0%) for detection of CT and 89.7% (95% CI, 75.8% to 97.1%) for NG, and the specificities were 99.5% (95% CI, 98.0% to 99.9%) and 98.7% (95% CI, 97.1% to 99.6%), respectively. The sensitivities of ex-post pooling approach were 98.7% (95% CI, 92.7% to 100.0%) for CT and 100.0% (95% CI, 91.0% to 100.0%) for NG, and the specificities were 100.0% (95% CI, 99.0% to 100.0%) and 100.0% (95% CI, 99.1% to 100.0%), respectively.
CONCLUSIONS
The ex-ante and ex-post pooling approaches show good sensitivity and specificity in detecting urogenital and extragenital CT and/or NG, indicating that these approaches can be used in epidemiological surveillance and clinical management of CT and NG infections, particularly among MSM population.
Topics: Male; Humans; Neisseria gonorrhoeae; Chlamydia trachomatis; Homosexuality, Male; Sexual and Gender Minorities; China
PubMed: 36878660
DOI: 10.1136/bmjopen-2022-069876