-
Annals of Surgical Oncology Jul 2024
Topics: Humans; Anus Neoplasms; Neoplasm Staging; United States; Prognosis; Practice Guidelines as Topic
PubMed: 38735904
DOI: 10.1245/s10434-024-15412-8 -
European Journal of Medical Genetics Jun 2024Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly... (Review)
Review
Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.
Topics: Humans; Female; Micrognathism; Child, Preschool; Intellectual Disability; Transcription Factors; Neck; Hand Deformities, Congenital; Abnormalities, Multiple; DNA-Binding Proteins; Anorectal Malformations; Face; DNA Helicases; Nuclear Proteins; Anal Canal; Phenotype
PubMed: 38735569
DOI: 10.1016/j.ejmg.2024.104948 -
Revista de Gastroenterologia Del Peru :... 2024To determine the prevalence and genotypic characteristics of anal papillomaviruses in HIV-positive men who have sex with men (MSM). (Observational Study)
Observational Study
OBJECTIVE
To determine the prevalence and genotypic characteristics of anal papillomaviruses in HIV-positive men who have sex with men (MSM).
MATERIALS AND METHODS
This is a prospective cross-sectional observational study of HIV-positive MSM at Almenara General Hospital between September 2017 and December 2018. HPV detection and typing was performed using a polymerase chain reaction technique that evaluated 21 genotypes stratified according to oncogenic risk into six low-risk and fifteen high-risk.
RESULTS
we evaluated 214 HIV-positive MSM. The overall prevalence of anal infection by papillomavirus infection was 70% (150/214). 86% (129/150) were caused by high-risk genotypes, 79% (102/129) of them were affected by a two or more-papillomavirus genotype. The most frequent high-risk genotypes were HPV-16, 31% (46/150); HPV-52, 22% (33/150); HPV-33, 21% (31/150); HPV-58, 21% (31/150) and HPV-31, 20% (30/150). In addition, HPV-18 reached 7% (10/150). The most frequent low-risk genotypes were HPV-6, 30% (45/150) and HPV-11, 29% (44/150).
CONCLUSIONS
Prevalence of anal papillomavirus infection in HIV-positive MSM is very high in the hospital investigated. Most of these infections occurs with high-risk oncogenic genotypes. Papillomavirus 16 was the most frequent high-risk genotype.
Topics: Humans; Male; Cross-Sectional Studies; Papillomavirus Infections; Prevalence; Adult; Prospective Studies; Genotype; Homosexuality, Male; Middle Aged; Anus Diseases; Papillomaviridae; HIV Infections; Young Adult
PubMed: 38734910
DOI: No ID Found -
Transplantation Proceedings May 2024Immunodeficiency predisposes to severe manifestations of human papillomavirus (HPV) infection, including extensive, recalcitrant anogenital lesions and their progression... (Comparative Study)
Comparative Study
Comparison of Long-Term Outcomes of Surgical Treatment of Human Papillomavirus-Dependent Neoplastic Lesions in Patients With Chronic Immunosuppression After Allogenic Organ Transplantation and Patients With Primary or Acquired Immunodeficiency-A One-Center Experience.
Immunodeficiency predisposes to severe manifestations of human papillomavirus (HPV) infection, including extensive, recalcitrant anogenital lesions and their progression towards carcinomas. This holds for primary and acquired immunodeficiencies, and post-transplant immunosuppressive therapy. About 50% to 90% of patients receiving chronic immunosuppression after allogenic transplantation develop HPV-associated lesions within 4 to 5 years, comprising 10% to 15% of patients presenting with (pre)cancerous HPV-dependent anogenital lesions. Immunodeficiency is one of the highest risk factors associated with severe clinical manifestations of HPV-associated cancers. The primary objective of this work is to compare the long-term therapeutic effectiveness of surgical intervention for HPV-dependent lesions in transplant recipients undergoing chronic immunosuppression and patients burdened with primary or acquired immunodeficiencies. Two groups of 30 patients (selected for most extensive presentations of HPV-dependent neoplastic anogenital lesions), who underwent surgical treatment of these lesions were followed up for 3 to 5 years. The first group comprised patients who qualified and underwent kidney or liver transplantation (10 for a rare disease indication) and are under chronic immunosuppressive regimens. The second group comprised patients burdened by primary or acquired immunodeficiency (15 each). The recurrence rate in the follow-up period was the primary compared parameter. The recurrence rate was higher in the second group, amounting to >15%. For the first group a <5% recurrence rate was observed for recipients without rare disease indications, compared to <15% for recipients with such indications. The importance of rapid surgical intervention and the need for postoperative monitoring for recurrence is highlighted. Chronic immunosuppression demonstrates high relative safety and efficacy in terms of HPV-dependent anogenital lesion recurrence.
Topics: Humans; Male; Papillomavirus Infections; Middle Aged; Female; Treatment Outcome; Adult; Immunosuppression Therapy; Immunosuppressive Agents; Kidney Transplantation; Anus Neoplasms; Liver Transplantation; Transplantation, Homologous; Time Factors; Human Papillomavirus Viruses
PubMed: 38734517
DOI: 10.1016/j.transproceed.2024.04.009 -
Medicine May 2024The efficacy of surgical intervention for perianal infection in patients with hematologic malignancies is not well established. Therefore, our study aimed to investigate...
The efficacy of surgical intervention for perianal infection in patients with hematologic malignancies is not well established. Therefore, our study aimed to investigate the clinical efficacy and complications of surgical treatment of perianal infection in patients with hematologic malignancies. This retrospective study included patients with hematological malignancies who were diagnosed with perianal infections and treated at the China Aerospace Science & Industry Corporation 731 Hospital between 2018 and 2022. Patient characteristics, hematological data, surgical intervention, and complications, including recurrence and mortality, were analyzed. This study included 156 patients with leukemia aged 2 months to 71 years who were treated surgically for perianal infection, comprising 94 males and 62 females. Perianal infection included 36 cases of abscesses, 91 anal fistulas, and 29 anal fissures accompanied by infection. A total of 36 patients developed severe complications postoperatively, including 4 patients who died, 6 patients with severe incision bleeding, 18 patients with severe pain, 6 patients with sepsis, 12 patients who needed reoperation, 15 patients with hospitalization for more than 2 weeks, and 3 patients with anal stenosis; none of the patients developed anal incontinence. Additionally, risk factors for postoperative complications of perianal infection in patients with hematologic malignancies include leukopenia, agranulocytosis, thrombocytopenia, depth of abscess and not undergone an MRI. Surgical intervention may improve the prognosis of patients with perianal abscess formation, particularly in patients who show no improvement with medical therapy and those who develop perianal sepsis. Granulocytopenia and thrombocytopenia should be improved before surgery, which can significantly reduce postoperative complications. Although these findings are from a case series without a comparator, they may be of value to physicians because to the best of our knowledge, no randomized or prospective studies have been conducted on the management of perianal infections in patients with hematological malignancies.
Topics: Humans; Male; Female; Retrospective Studies; Middle Aged; Adult; Aged; Hematologic Neoplasms; Abscess; Adolescent; Child; Young Adult; Anus Diseases; Child, Preschool; Postoperative Complications; Infant; Rectal Fistula; Treatment Outcome; Fissure in Ano
PubMed: 38728504
DOI: 10.1097/MD.0000000000038082 -
Proteomics. Clinical Applications May 2024This paper is to offer insights for designing research utilizing Olink technology to identify biomarkers and potential therapeutic targets for disease treatment. (Review)
Review
PURPOSE
This paper is to offer insights for designing research utilizing Olink technology to identify biomarkers and potential therapeutic targets for disease treatment.
EXPERIMENTAL DESIGN
We discusses the application of Olink technology in oncology, cardiovascular, respiratory and immune-related diseases, and Outlines the advantages and limitations of Olink technology.
RESULTS
Olink technology simplifies the search for therapeutic targets, advances proteomics research, reveals the pathogenesis of diseases, and ultimately helps patients develop precision treatments.
CONCLUSIONS
Although proteomics technology has been rapidly developed in recent years, each method has its own disadvantages, so in the future research, more methods should be selected for combined application to verify each other.
PubMed: 38726756
DOI: 10.1002/prca.202300233 -
Wiener Klinische Wochenschrift May 2024Fecal incontinence (FI) is a common disease with higher incidence rates in the elderly population. Treatment of affected patients remains challenging and ranges from...
Fecal incontinence (FI) is a common disease with higher incidence rates in the elderly population. Treatment of affected patients remains challenging and ranges from conservative management to surgical techniques. Despite all efforts patients often undergo several therapeutic measurements to achieve reasonable functional improvements.Although sacral neuromodulation still remains a key therapy with success rates up to 80%, a significant number of patients do not respond sufficiently and require further treatment.Several artificial bowel sphincter devices exist, which can lead to better functional control in selected patients. Notably, complications after these surgeries do occur frequently and the need for implant replacement is still considerable high.A novel anal band, developed by Agency for Medical Innovations (A.M.I., Austria) is currently under evaluation. This device, composed of silicone and polyester, is placed around the anus outside the external sphincter muscle complex aiming to improve stool continence via mechanical pressure. Early results of this new operation are eagerly awaited.
PubMed: 38713226
DOI: 10.1007/s00508-024-02369-7 -
American Journal of Men's Health 2024Benign anorectal diseases such as hemorrhoidal disease, anal fissure, anal pruritus, perianal abscess, and fistula are the most common ones. The aim of this study was to...
Benign anorectal diseases such as hemorrhoidal disease, anal fissure, anal pruritus, perianal abscess, and fistula are the most common ones. The aim of this study was to assess sexual function in patients after surgery for benign anorectal diseases. Sixty-one male patients with perianal fistulas, operated on at Department of General Surgery, Faculty of Medicine, completed a self-administered questionnaire including the International Index of Erectile Function (IIEF) score. The median IIEF score of the postoperative patients was significantly higher (24, range [10-25]) than that of preoperative patients (22, range [5-25]), < .0001. Sexual function is significantly influenced by surgery for benign anorectal diseases.
Topics: Humans; Male; Adult; Middle Aged; Surveys and Questionnaires; Anus Diseases; Young Adult; Aged; Rectal Diseases; Rectal Fistula; Erectile Dysfunction
PubMed: 38712744
DOI: 10.1177/15579883241252016 -
Journal of Lower Genital Tract Disease Jul 2024We investigated factors associated with "worse than usual" anal health among gay and bisexual men aged ≥35 years recruited to a longitudinal study of anal human...
We investigated factors associated with "worse than usual" anal health among gay and bisexual men aged ≥35 years recruited to a longitudinal study of anal human papillomavirus infection/lesions from September 2010 to August 2015.Among 616 participants (median age 49 years; 36% HIV-positive), 42 (6.8%) reported worse than usual anal health in the last 4 weeks. Associated factors included spending less time with gay friends (odds ratio [OR] = 2.25, 95% CI = 1.06-4.77), most time "feeling down"(OR = 9.17, 95% CI = 2.94-28.59), reduced libido (OR = 2.90, 95% CI = 1.52-5.52), current anal symptoms (OR = 6.55, 95% CI = 2.54-16.90), recent anal wart diagnosis (OR = 4.33, 95% CI = 1.98-9.49), and fear of developing anal cancer (OR = 9.34, 95% CI = 4.52-19.28).Concerns regarding anal health should be routinely discussed by clinicians, and potentially associated psychosocial, physical, and sexual issues further explored.
Topics: Humans; Male; Cross-Sectional Studies; Middle Aged; Adult; Longitudinal Studies; Aged; Homosexuality, Male; Sexual and Gender Minorities; Papillomavirus Infections; Anus Neoplasms
PubMed: 38709111
DOI: 10.1097/LGT.0000000000000818 -
Biomarkers in Medicine 2024The present meta-analysis was performed to evaluate the prognostic and clinicopathological significance of PD-L1 in anal cancer (AC). Hazard ratios (HRs) and... (Meta-Analysis)
Meta-Analysis Review
The present meta-analysis was performed to evaluate the prognostic and clinicopathological significance of PD-L1 in anal cancer (AC). Hazard ratios (HRs) and 95% CIs regarding overall survival (OS) and progression-free survival (PFS) were calculated based on PD-L1 levels. According to the combined data, PD-L1 showed no significant relationship with OS (HR = 0.76; 95% CI = 0.35-1.67; p = 0.502) or PFS (HR = 0.88; 95% CI = 0.35-2.33; p = 0.789) in patients with AC. Based on subgroup analysis, PD-L1 overexpression significantly predicted prolonged OS (HR = 0.38; 95% CI = 0.17-0.84; p = 0.017) in tumor node metastasis stages I-III and inferior PFS (HR = 2.73; 95% CI = 1.32-5.65; p = 0.007) in patients with stage I-IV AC. PD-L1 level assessed by immunohistochemistry did not significantly predict survival outcomes in AC cases.
Topics: Humans; B7-H1 Antigen; Anus Neoplasms; Prognosis; Biomarkers, Tumor; Neoplasm Staging
PubMed: 38700275
DOI: 10.2217/bmm-2023-0727