Search Results (103)

The perianal skin is a unique “skin–gut” boundary that serves as a critical hotspot for the exchange and evolution of antibiotic resistance genes (ARGs). However, its role in the dissemination of antimicrobial resistance (AMR) has often been underestimated. To characterize the resistance patterns in the perianal skin environment of patients with perianal diseases and to investigate the drivers of AMR in this niche, a total of 51 bacterial isolates were selected from a historical strain bank containing isolates originally collected from patients with perianal diseases. All the isolates originated from the skin site and were subjected to antimicrobial susceptibility testing, whole-genome sequencing, and co-occurrence network analysis. The analysis revealed a highly structured resistance pattern, dominated by two distinct modules: one representing a classic Staphylococcal resistance platform centered around mecA and the bla operon, and a broad-spectrum multidrug resistance module in Gram-negative bacteria centered around tet(A) and predominantly carried by IncFIB and other IncF family plasmids. Further analysis pinpointed IncFIB-type plasmids as potent vehicles driving the efficient dissemination of the latter resistance module. Moreover, numerous unexplained resistance phenotypes were observed in a subset of isolates, indicating the potential presence of emerging and uncharacterized AMR threats. These findings establish the perianal skin as a complex reservoir of multidrug resistance genes and a hub for mobile genetic element exchange, highlighting the necessity of enhanced surveillance and targeted interventions in this clinically important ecological niche. Full article

Hidradenitis suppurativa (HS) and inflammatory bowel disease (IBD), including Crohn’s disease (CD) and ulcerative colitis (UC), are chronic, immune-mediated conditions with significant impact on quality of life. Emerging evidence reveals a notable epidemiological and pathogenic overlap between HS and IBD, particularly CD. Although a bidirectional association between HS and IBD has been well documented, current evidence supports a causal effect of IBD on the development of HS, while a causal relationship in the opposite direction has yet to be established. The present review explores the important association between these immune-mediated conditions and further highlights shared risk factors, genetic predispositions and immunopathogenic mechanisms, such as dysbiosis and cytokine dysregulation, involved in both HS and IBD. Diagnostic challenges, especially in differentiating perianal HS from perianal CD, are also discussed. The coexistence of HS and IBD impacts disease severity, treatment response, and overall management strategies. Shared therapeutic approaches, such as TNF-α inhibitors and JAK inhibitors, are considered promising options for effectively managing patients affected by both conditions. Nevertheless, deeper understanding of the gut–skin axis that will offer potential for more precise interventions in patients with simultaneous HS and IBD is considered imperative. Full article

Background: Cytomegalovirus (CMV) colitis is commonly seen in patients who are immunodeficient or have inflammatory bowel disease. Among the gastrointestinal sites affected by CMV, the colon is the most frequently affected, though rectal involvement is relatively rare. Reactivated CMV proctitis primarily occurs in elderly patients with comorbidities and is quite uncommon in immunocompetent individuals. Patients with reactivated CMV typically present with symptoms such as diarrhea, hematochezia, or tenesmus. Case presentation: We report a case of a female patient with uncontrolled diabetes who presented to the clinic complaining of perianal pain. She had no history of diarrhea or rectal bleeding. Lower GI endoscopy reported a small, localized, approximately 0.5 cm swelling in the proximal anal canal in addition to sigmoid diverticulosis. The biopsy revealed a small ulcer at the anorectal junction caused by CMV and confirmed by immunohistochemistry. Unfortunately, the patient was lost to follow-up before antiviral therapy could be initiated. Conclusions: This case highlights an uncommon presentation of reactivated CMV proctitis in an older diabetic patient presenting solely with perianal pain. Clinicians should maintain a high index of suspicion for CMV infection in elderly patients with comorbidities, even when classical colitis symptoms are absent, to avoid delayed diagnosis and management. Full article

Background/Objectives: Hidradenitis suppurativa (HS) is a complicated chronic inflammatory skin disorder characterized by recurrent and painful deep-seated nodules, abscesses, fistulae, scarring, and sinus tracts. HS most commonly affects high-density hair follicles and apocrine gland-rich regions of the body, including the axillae, inguinal folds, breasts, and perianal areas. Although genetic predisposition and environmental factors are known to contribute to the development and the severity of HS, the molecular mechanisms of HS are largely unknown. Methods: In this study, we employed global epigenetic and genomic data analysis and single-nucleus ATAC-seq (snATAC-seq) to profile the heterogeneity of HS-associated chromatin accessibility and define the underlying disease drivers. We additionally performed high-resolution immunofluorescence staining to confirm a novel candidate regulator. Results: We found that multiple skin development modules and molecular signal pathways were epigenetically dysregulated in HS basal CD49f^high cells. Importantly, our snATAC-seq revealed a previously unraveled role for a transcription factor, ATF3, in transcriptionally regulating HS-associated genes. We also delineated the specific ATF3 expression pattern across the HS lesional skin. Conclusions: We characterize HS-specific epigenetic plasticity and chromatin state at the single-nucleus level and further underscore a possible mechanism for HS pathogenesis. Full article

Background/Objectives: Pediatric inflammatory bowel disease (pIBD), including Crohn’s disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBD-U), exhibits unique clinical features compared to adult-onset disease. This study aimed to describe phenotypic characteristics of pIBD in the north-west region of Romania over a 21-year period and to compare our findings with those of other studies worldwide. Methods: We conducted a retrospective study of children under 18 years of age, from the north-west region of Romania, diagnosed with pIBD between 2000 and 2020 at the Emergency Clinical Hospital for Children, Cluj-Napoca. Disease phenotype at diagnosis was established according to the Paris classification. Data were collected from the hospital records and analyzed using descriptive statistics and univariate analysis of categorical variables. A p-value < 0.05 was considered statistically significant. Results: Ninety-four patients were included (CD: 51.0%; UC: 43.6%; IBD-U: 5.4%), with a median age at diagnosis of 14 years (11–15.7). Very early-onset IBD accounted for 5.3% of cases. The likelihood of being diagnosed with CD after 10 years of age was significantly higher compared to UC (OR = 4.75, 95% CI: 1.10–29.07, p = 0.03). UC most frequently presented as pancolitis (51.2%), while CD most often involved the ileocolonic region (56.3%). Inflammatory behavior was the most common CD phenotype (69%). Upper gastrointestinal involvement was documented in 18.7% of CD cases, with detection rates increasing after 2014. Perianal disease and growth impairment were significantly associated with complicated CD behavior (p = 0.03, and p = 0.007 respectively). Our findings are broadly consistent with other published reports. Conclusions: This study provides the first detailed phenotypic characterization of pIBD in this region. Our findings reflect trends observed in other populations and underscore the importance of standardized diagnostic evaluation. Full article

Background/Objectives: Fournier’s Gangrene (FG) is a severe and potentially fatal necrotizing infection of the perianal and genital regions, which necessitates prompt therapeutic interventions to prevent disease progression. Accruing evidence from recent research indicates that the neutrophil‒to-lymphocyte ratio (NLR) can predict clinical severity and mortality risk in patients with critical illnesses across various etiologies. This meta-analysis aimed to assess the efficacy of NLR as a prognostic indicator for mortality in patients with FG. Methods: An electronic literature search was conducted across several databases from their inception to 31 May 2024, following a predetermined protocol. Study quality was evaluated using the Cochrane risk of bias tool. A random-effect model was utilized to synthesize the available data. Results: Twelve studies reporting on 767 patients were included in the meta-analysis. Higher NLR levels at presentation were recorded in non-survivors than in survivors (MD = 4.49 [95% CI: 0.67–8.32]; p = 0.02). A 76% increased mortality risk was detected for patients with an NLR ≥ 8 (1.76 RR [1.35–2.3], p = 0.0001), and the mortality risk was more than twofold greater for patients with an NLR ≥ 10 compared to the remaining patients (RR = 2.31 [1.27–4.21], p = 0.006). All included studies exhibited a moderate to serious risk of bias. Conclusions: This meta-analysis reveals that the NLR represents a promising biomarker that can serve as a prognostic indicator in patients with FG. Future studies should address the establishment of proper disease-specific cutoff values to aid in clinical decision-making. Full article

Background: Pediatric-onset familial inflammatory bowel disease (IBD) may differ from sporadic pediatric-onset IBD in its genetic and environmental background and may have distinct clinical and therapeutic implications. Objective: To evaluate the influence of a positive family history of IBD on the use of medical therapies and surgical interventions in adult patients with pediatric-onset IBD. Methods: Retrospective case–control study using the Spanish ENEIDA registry, including adults diagnosed with pediatric-onset IBD since 2006. Familial forms (FFs) (defined by a first-degree relative with IBD) and sporadic forms (SF) (with no relatives of any grade with IBD) were matched 1:4 by type of IBD, sex, age at IBD diagnosis, disease location, disease pattern, development of perianal disease and smoking status at diagnosis. The study outcomes were the use of immunomodulators, biological therapies, intestinal surgery, and perianal surgery during follow-up. Results: Six-hundred and fifty-five Crohn’s disease (CD) (131 FF) and 440 ulcerative colitis (UC) (88 FF) patients were included. Immunomodulators, biological therapy, and intestinal surgery were used evenly among FF and SF patients for both UC and CD. However, a higher requirement for perianal surgery among FF-CD patients (18.3% vs. 10.5%, p = 0.014), together with a shorter time to perianal surgery (11 vs. 20 months, log-rank p = 0.004), was observed. Conclusions: Patients with FF of pediatric-onset IBD do not exhibit an increased use of immunomodulators, biological agents, or intestinal surgery, but do exhibit a higher need for perianal surgery, as compared to patients with SF pediatric-onset IBD. Full article

Background: Extramammary Paget’s disease (EMPD) is a rare cutaneous carcinoma that typically affects the elderly and is frequently observed in genital and perianal regions. We analyzed the outcomes and prognostic factors for EMPD after radiation therapy (RT). Methods: We analyzed data from 81 patients with non-metastatic EMPD who received either RT alone or in combination with surgery and/or chemotherapy. The median radiation dose was 56 Gy in 28 fractions. Local control (LC), progression-free survival (PFS), and overall survival (OS) rates were calculated using the Kaplan–Meier method. Multivariate analyses were performed using the Cox proportional hazards model. Late adverse events were evaluated by NCI-CTCAE version 5.0. Results: The median age was 78 years, and the median follow-up period was 36 months. The three-year LC, PFS, and OS rates were 75%, 52%, and 80%, respectively. Multivariate analyses identified the presence of lymph node (LN) metastasis, the absence of surgery, and the omission of elective nodal irradiation (i.e., local irradiation only) as significant factors for unfavorable LC (p = 0.01, 0.02, and 0.006) and PFS (p = 0.001, 0.04, and 0.03). LN metastasis was also a significant factor for unfavorable OS (p = 0.005). One patient developed grade 2 skin infection, and another developed grade 3 lymphedema; no grade 4 or higher toxicity was observed. Conclusions: The present results revealed prognostic factors for EMPD after RT and suggest that the absence of surgery and omission of elective nodal irradiation worsened outcomes. A prospective study is needed to establish an optimal treatment strategy for this rare malignancy, which is common in the elderly. Full article

Despite a combination of medical and surgical treatments, many patients with perianal Crohn’s disease (CD) continue to experience refractory disease, requiring proctectomy or proctocolectomy, with the creation of a permanent stoma. Although proctectomy is seen as an ultimate treatment aimed at effectively relieving debilitating symptoms and enhancing quality of life, many patients may still face long-term and chronic complications. This narrative review aims to provide an overview of the main complications that patients undergoing proctectomy for CD may experience throughout their lives. Relevant publications addressing complications of proctectomy for refractory perianal CD were searched in the Medline/PubMed, Embase, Cochrane, and LILACS databases. The main long-term complications that patients encounter are related to impaired perineal wound healing, stoma-related issues, sexual and urinary dysfunction, small bowel obstructions, and CD recurrence. These complications negatively affect the quality of life and frequently necessitate further treatment. Patients should receive preoperative counselling regarding the implications of these particular issues, and regular follow-up must be guaranteed to identify any problems early, allowing for prompt treatment. Full article

Perianal complications of Crohn’s disease are one of the significant reasons for abdominoperineal resection in patients with medically refractory perianal Crohn’s disease. A 35-year-old man with Crohn’s disease with colostomy presented to our clinic due to perianal fistulas. Complete stricture of the anus was observed, and the patient was found unsuitable for the stoma closure. The Turnbull–Cutait procedure was performed and he was discharged on the fifth postoperative day. In the second month after surgery, rectoscopy revealed a 2 cm long pouch on the neorectum. Then, the patient was treated with antibiotics and infliximab. Following the treatment, the symptoms of the patient were regressed. In the 10th postoperative month, a perianal abscess was seen, and the patient was treated with antibiotics. His ileostomy was reversed in the 18th postoperative month without any complications. In the 42nd postoperative month, no complications were reported. This case report presents the index perianal Crohn’s disease case successfully treated with the Turnbull–Cutait procedure. Full article

The development of perianal fistulas leads to a significant decrease in the quality of patients’ lives. The onset of this condition is dependent on many factors, including inflammation or trauma. In the occurrence of Crohn’s disease-associated fistulas, numerous molecular factors and metabolic pathways are involved. To integrate the current knowledge on the biochemical, genetic, and epigenetic factors taking part in the development of perianal fistulas, we conducted a literature review. We gathered and analyzed 45 articles on this subject. The pathophysiology of fistulas associated with Crohn’s disease (CD) involves epithelial–mesenchymal transition (EMT) and matrix remodeling enzymes, with key regulators including transforming growth factor β (TGF-β), tumor necrosis factor α (TNFα), and interleukin-13 (IL-13). Genetic factors, such as mutations in receptor-interacting serine/threonine-protein kinase 1 (RIPK1), interleukin-10 receptor (IL-10R), and the MEFV gene, contribute to the onset and severity of perianal fistulas, suggesting potential therapeutic targets. Understanding the complex interplay of molecular pathways and genetic predispositions offers insights into personalized treatment strategies for this challenging condition. Further research is necessary to elucidate the intricate mechanisms underlying the pathogenesis of perianal fistulas and to identify new therapeutic interventions. Full article

Crohn’s disease is a chronic inflammatory bowel disease and, despite an increase in the available drug treatments, many patients will still require surgery at some point in their disease course. Stricturing and penetrating phenotypes of Crohn’s disease are less likely to respond to our current medical treatment and, therefore, surgical intervention may be required. This is most commonly elective, planned surgery, thereby affording the opportunity to optimize medications, nutritional and inflammatory status, and steroid use. Poor nutritional status and previous surgery increase the risk of postoperative complications. Preoperative optimization has three main goals: reduction of postoperative complications; reduction of reoperation rates; and reduction of postoperative recurrence rates. A literature search was completed using PubMed, Embase, and Ovid using the search term “preoperative optimization in Crohn’s disease”, and it included both adult and pediatric studies, excluding those for perianal Crohn’s disease. In this narrative review, we examine the role of nutritional intervention, medical optimization pre and postoperatively, and the role of personalized prehabilitation in the reduction of postoperative complications. We demonstrate that these may all yield better postoperative outcomes for patients with Crohn’s disease undergoing elective surgery, although the evidence is somewhat limited and there is a requirement for more prospective randomized controlled trials to implement their role into standard practice or guidelines. Full article

Background: Human papillomavirus (HPV) infections in men remain under-researched despite their critical role in disease transmission and the increasing incidence of HPV-related cancers. This study investigates the clinical and molecular characteristics of anogenital HPV infections in men, emphasizing genotype prevalence, diagnostic methods, and lesion variability. Methods: A cross-sectional study was conducted on 70 men aged 18–65 years with clinically diagnosed anogenital HPV infection. Lesions were characterized by morphology and location. HPV DNA was analyzed using INNO-LiPA (INNOvative Line Probe Assay), Hybrid Capture II (HC II), and polymerase chain reaction (PCR) assays to determine genotype distribution. Associations between clinical features and HPV genotypes were assessed using multivariate statistical analyses. Results: Lesions varied in morphology, with verrucous (52.86%) and papular (30%) types being the most common. Localization patterns showed predominance on the penis radix (34.29%) and shaft (27.14%). Molecular testing revealed HPV DNA in 88.57% of the cases using INNO-LiPA, compared to 45% and 40% with HC II and PCR, respectively. Low-risk (LR) genotypes, particularly HPV6, dominated single infections, comprising 68.57% of the cases, while high-risk (HR) genotypes accounted for 20%. Mixed LR and HR infections were observed in 14.29% of the lesions, with greater diversity noted in distal genital regions. Notably, condyloma plana and lesions on the inner prepuce exhibited a higher prevalence of HR and mixed infections. Age and lesion duration showed trends toward older patients and longer disease duration in cases involving perianal and extragenital condylomas, though these findings were not statistically significant. No direct correlation between lesion type or localization and specific genotypes was identified, underscoring the heterogeneity of HPV clinical manifestations in men. Conclusions: Anogenital HPV infections in men exhibit significant heterogeneity in lesion morphology, localization, and genotype distribution. HR HPV genotypes were detected in a notable proportion of benign lesions, underscoring their potential role in disease progression. INNO-LiPA proved superior in diagnostic accuracy, highlighting the need for standardized and cost-effective diagnostic approaches for men. Further research is crucial to elucidate HPV’s clinical impact in men and inform prevention and treatment strategies. Full article

Background/Objectives: Our study describes hyperbaric oxygen therapy (HBOT) as an additional therapy in the conservative treatment of Crohn’s disease (CD) and its benefit in the early postoperative period to prevent surgical complications and improve gastrointestinal motility. Methods: This retrospective study evaluated HBOT in patients hospitalized at the Clinical Hospital Center Split for complications of CD between 2015 and 2020. Patients (N = 61) aged 19 to 67 with perianal fistulas, abscesses, fistulas, obstruction, stenosis, or bleeding were included, excluding those with ulcerative colitis or requiring intensive care. Patients were retrospectively divided into conservatively and surgically treated groups, and HBOT was administered over 15–25 days, with treatment lasting 60 min at 2.2 absolute atmospheres (ATA). We analyzed treatment outcomes between the HBOT-treated surgical and conservative groups and compared patients treated with HBOT to a cohort from the preceding five years who did not receive HBOT. Results: We treated 61 CD patients with HBOT, including 34 conservatively and 27 surgically treated patients. HBOT significantly reduced disease activity indices (311.7 ± 59.1 vs. 114 ± 29.8; 203.6 ± 24.1 vs. 83.8 ± 15, for conservatively treated patients, and 352.8 ± 45.7 vs. 109 ± 22.8; 270.4 ± 19.7 vs. 140.3 ± 10.6 for surgically treated patients) and accelerated bowel peristalsis recovery, with 94.1% of conservatively treated patients achieving remission. Comparison with a historical cohort showed faster recovery and improved outcomes in the HBOT group. Conclusions: HBOT is useful in postponing or avoiding surgical treatment, and in operated patients, it improves postoperative recovery and reduces the rate of postoperative complications. Full article

Background/Objectives: Some skin tumors can extend beyond their clinical appearance. This presents an additional challenge, especially when the affected area is the genital region, which is more difficult for both the patient and the physician to access and monitor due to its location and anatomical characteristics. The treatment of these lesions is complex, and literature postulates Mohs surgery as the best therapeutic option. Methods: We describe our experience in two patients with the resection of vulvar lentiginous melanoma and genital extramammary Paget’s disease, using a method of deferred lateral margin control in the surgical treatment. Results: The “spaghetti technique”(ST) initially removing a small strip from all lateral margins of the lesion, which is then closed directly while awaiting the paraffin histological result. In a second stage, the tumors within those margins are removed, and immediate reconstruction is performed. The final oncological and functional result was satisfactory, with no notable side effects. Conclusions: This method is suited for large, poorly defined superficial tumors in the genital, perineal, and perianal regions, where a frozen section study would be slow and burdensome for the patient and surgeon. The ST preserves healthy tissue and can be performed by any surgeon and pathologist without additional training, and is more comfortable for patients, avoiding prolonged open wounds during multiple steps of tumor excision. Full article