Efficacy of surgical treatment of perianal infection in patients with hematological malignancy.

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.

A phase I/II clinical trial of ex-vivo expanded human bone marrow derived allogeneic mesenchymal stromal cells in adult patients with perianal fistulizing Crohn's Disease.

BACKGROUND: Perianal fistulas (PF) affect one-third patients with Crohn's disease (CD) with limited therapeutic options. There is dearth of literature on safety and efficacy of bone marrow-derived mesenchymal stromal cells (BMSCs) in this population. METHODS: An open-label, phase I/II, single-arm study was conducted involving local administration of human allogeneic bone marrow-derived mesenchymal stromal cells in perianal fistula of patients with Crohn's disease refractory to standard therapies. Clinical severity and biomarkers were assessed at baseline and periodically until week 104 , and MRI at week 24 and 104. Primary and secondary objectives were to assess safety and efficacy respectively. Fistula remission was complete closure of fistula openings with < 2 cm perianal collection on MRI, and fistula response was decrease in drainage by ≥ 50%. Change in perianal disease activity index, quality-of-life and Van Assche index on MRI over time was assessed using mixed-effect linear regression model. RESULTS: Ten patients (male:8, mean age:27.4 ± 12.0years) were recruited. Self-resolving procedure-related adverse events occurred in three patients, with no follow-up adverse events. In intention to treat analysis at week 24, two patients (20%) achieved fistula remission and seven (70%) had fistula response. At week 52, two (20%) patients were in remission and seven (70%) maintained response. At 104 weeks, two (20%) patients maintained response and one (10%) was in remission. Statistically significant decrease in perianal disease activity index (P = 0.008), Van Assche Index (P = 0.008) and improvement in quality-of-life (P = 0.001) were observed over time. CONCLUSIONS: Allogeneic BMSCs are safe and effective for the treatment of perianal fistulizing CD with significant improvement in clinical severity and radiological healing. TRIAL REGISTRATION: The study was prospectively registered on Clinical trials registry - India (CTRI), CTRI/2020/01/022743 on 14 January 2020, http://ctri.nic.in .

Management of anal fistulas in Crohn's disease after failure of Infliximab.

INTRODUCTION: Treatment of complex perianal fistulas in Crohn's disease remains a challenge especially after the failure of Infliximab. AIM: Update on the different therapeutic alternatives for anal fistula in Crohn's disease after failure of Infliximab. METHODS: A research in the medical literature on PubMed and Google Scholar was carried out. We included cohort studies, reviews and randomized double-blinded therapeutic trials. Case reports and fundamental research studies have been excluded. RESULTS: Anti-TNF therapy, notably Infliximab remain the therapeutic option of choice. Since Infliximab efficacy has been estimated at 60%, with a significant loss-of response rate, new therapeutic strategies have been evaluated and may offer new opportunities for the management of anal fistulas: for example, Ustekinumab could be effective after failure of anti-TNF therapy, although further studies are required. Recent guidelines suggest that injection of mesenchymal stem cells is an effective and safe treatment for complex fistulas. Other surgical options have been proposed, such as endorectal advancement flap, fibrin glue injection, anal fistula plug and ligation of the intersphincteric fistula tract, but all with limited and debatable efficacy. Given the failure rate of all these options, new strategies are currently being evaluated. CONCLUSION: Anal fistulas in Crohn's disease are a real therapeutic challenge. New medical and surgical therapies are currently being evaluated, with promising results.

[A new treatment option for complex perianal fistulas in Crohn's disease patients; development of darvadstrocel (allogeneic expanded adipose-derived mesenchymal stem cells) in Japan].

Crohn's disease (CD) is a chronic and relapsing inflammatory bowel disease affecting the entire gastrointestinal tract. The prevalence of CD among Japanese people is increasing. One of the most frequent complications of CD is perianal fistulas. People living with CD may experience complex perianal fistulas, which can cause intense pain, bleeding, swelling, infection, and anal discharge. Despite medical and surgical advancements, complex perianal fistulas in CD remain challenging for clinicians to treat. CD patients living with perianal fistulas reported a negative impact on many aspects of their quality of life. Darvadstrocel is a cell therapy product containing a suspension of allogeneic expanded adipose-derived mesenchymal stem cells. It has been approved in Europe and Japan for the treatment of complex perianal fistulas that have shown an inadequate response to at least one conventional or biologic therapy in adult patients with non-active/mildly active luminal CD. By exhibiting immunomodulatory and local anti-inflammatory effects at the site of inflammation, it offers a new treatment option for complex perianal fistulas in CD patients. In this manuscript, the characteristic of darvadstrocel, the summary of results from the pivotal phase 3 studies in Europe and Japan, and the development strategy in Japan were introduced.

Sexual Function After Surgical Treatment for Benign Anorectal Disorders.

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]), p < .0001. Sexual function is significantly influenced by surgery for benign anorectal diseases.

Closure of Anal Fistula with Laser- FiLaC™: a Novel Sphincter-Saving Procedure for Complex Fistula In-Ano.

There are several surgical options described for the treatment of anorectal fistulas, specially in complex cases where recurrence rates and the possibility of postoperative complications are still high. Laser- FiLaC™ has been described in this study as an option in the management of anorectal fistula. The aim of this study was to assess the novel radial laser probe treatment in complex fistula in-ano and report the success rate and recurrence rate. We studied retrospectively 56 patients who, according to our hospital patient records, underwent radial laser probe surgery between March 2019 and August 2020. In a mean follow-up time of 6 months, the success rate at 2 months was 86.0%. Most operations were done under spinal anesthesia. The recovery time was rapid and median sick leave was 7 days. Of those initially successfully treated, 3.0% developed a recurrence. Altogether 4.0% of the patients underwent a re-operation. There is a good success rate using FiLaC™ treatment. FiLaC™ is very effective in treatment of complex fistula and as well as recurrence of fistula. It has a short hospital stay and as well as it is painless surgical technique that should be largely used in our country.

Dynamic contrast-enhanced MR imaging in identifying active anal fistula after surgery.

BACKGROUND: It is challenging to identify residual or recurrent fistulas from the surgical region, while MR imaging is feasible. The aim was to use dynamic contrast-enhanced MR imaging (DCE-MRI) technology to distinguish between active anal fistula and postoperative healing (granulation) tissue. METHODS: Thirty-six patients following idiopathic anal fistula underwent DCE-MRI. Subjects were divided into Group I (active fistula) and Group IV (postoperative healing tissue), with the latter divided into Group II (≤ 75 days) and Group III (> 75 days) according to the 75-day interval from surgery to postoperative MRI reexamination. MRI classification and quantitative analysis were performed. Correlation between postoperative time intervals and parameters was analyzed. The difference of parameters between the four groups was analyzed, and diagnostic efficiency was tested by receiver operating characteristic curve. RESULTS: Wash-in rate (WI) and peak enhancement intensity (PEI) were significantly higher in Group I than in Group II (p = 0.003, p = 0.040), while wash-out rate (WO), time to peak (TTP), and normalized signal intensity (NSI) were opposite (p = 0.031, p = 0.007, p = 0.010). Area under curves for discriminating active fistula from healing tissue within 75 days were 0.810 in WI, 0.708 in PEI, 0.719 in WO, 0.783 in TTP, 0.779 in NSI. All MRI parameters were significantly different between Group I and Group IV, but not between Group II and Group III, and not related to time intervals. CONCLUSION: In early postoperative period, DCE-MRI can be used to identify active anal fistula in the surgical area. TRIAL REGISTRATION: Chinese Clinical Trial Registry: ChiCTR2000033072.

Correlation between congenital pelvic floor muscle development assessed by magnetic resonance imaging and postoperative defecation.

OBJECTIVE: Children with congenital anorectal malformation (CAM) experience challenges with defecation. This study aims to assess defecation in preschool-age children with CAM and to evaluate the correlation between pelvic floor muscle developed assessed by magnetic resonance imaging (MRI) and postoperative defecation. METHODS: We collected clinical data and MRI results from 89 male children with CAM. The bowel function scores for children with Perineal (cutaneous) fistula, Rectourethral fistula(Prostatic or Bulbar), and Rectovesical fistula were computed. MRI scans were subjected to image analysis of the striated muscle complex (SMC). The association between pelvic floor muscle score and bowel function score was examined using the Cochran-Armitage Trend Test. RESULTS: We observed that 77.4% of the SMC scores by MRI for Perineal fistula were good. The Rectourethral fistula SMC score was 40.6% for moderate and 59.4% for poor. The SMC score for Rectovesical fistula was 100% for moderate. Furthermore, 77.4% of patients with Perineal fistula had bowel function scores (BFS) ≥ 17 points. Among those with Rectourethral fistula and Rectovesical fistula, 12.5% and 0 had BFS ≥ 17 points, respectively. An analysis of muscle development and bowel function in patients with Rectovesical fistula, Rectourethral fistula, and Perineal fistula revealed a correlation between SMC development and BFS. Subgroup analysis showed that the Perineal fistula had statistical significance; however, the Rectourethral fistula and Rectovesical fistula were not statistically significant. CONCLUSION: A correlation exists between pelvic floor muscle development and postoperative defecation in children with Perineal fistula.

Comparison of postoperative urinary complications in laparoscopic-assisted anorectoplasty versus posterior sagittal anorectoplasty for anorectal malformation with rectourethral fistula.

BACKGROUND: Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) in terms of urinary complications. METHODS: Between 2001 and 2022, 45 patients were treated with LAARP or PSARP. The rectourethral fistula and inflow angle between the fistula and rectum was confirmed by preoperative colonography. The incidence of urinary complications and treatment were compared between the two groups. RESULTS: Four patients (14%) had remnant fistula and five patients (17%) had neurogenic bladder dysfunction in LAARP group, while three patients (18%) had urethral injury in PSARP group. All patients with remnant fistula were asymptomatic and followed without treatment. The incidence of remnant fistula improved between earlier decade and later decade. In all cases with urethral injury, suture repair was performed and no postoperative leakage was noted. All five patients with neurogenic bladder dysfunction had spine abnormalities that required clean intermittent catheterization (CIC) and two were free from CIC finally. CONCLUSIONS: It is important to check inflow angle preoperatively to prevent remnant fistula. For PSARP, meticulous dissection is required when separating fistula from urethra because they create common wall. The most contributing factor to neurogenic bladder is sacral anomalies. Preoperative evaluation and postoperative urinary drainage are important.

Anal Cryptoglandular Suppuration: Evidence-Based Management.

Anal suppurative processes are commonly encountered in surgical practice. While the initial therapeutic intervention is philosophically straightforward (incision and drainage), drainage of the appropriate space and treatment of the subsequent fistula in ano require a thorough understanding of perianal anatomy and nuanced decision making. Balancing the risk of fecal incontinence with simple fistulotomy versus the higher risk of fistula recurrence with all sphincter-sparing fistula treatments can be a challenge for surgeons and patients alike.

Self-screening questionnaire for perianal fistulizing disease in patients with Crohn's disease.

BACKGROUND/AIMS: A poor prognostic factor for Crohn's disease (CD) includes perianal fistulizing disease, including perianal fistula and/or perianal abscess. Currently, a tool to assess perianal symptoms in patients with CD remains nonexistent. This study aimed to develop a perianal fistulizing disease self-screening questionnaire for patients with CD. METHODS: This prospective pilot study was conducted at three tertiary referral centers between January 2019 and May 2020. We formulated questions on perianal symptoms, including tenesmus, anal discharge, bleeding, pain, and heat. A 4-point Likert scale was used to rate each question. Patients with CD completed a questionnaire and underwent pelvic magnetic resonance imaging (MRI). RESULTS: Overall, 93 patients were enrolled, with 51 (54.8%) diagnosed with perianal fistulizing disease, as determined by pelvic MRI. The Spearman correlation findings demonstrated that anal pain (p = 0.450, p < 0.001) and anal discharge (p = 0.556, p < 0.001) were the symptoms that most significantly correlated with perianal disease. For anal pain and discharge, the area under the receiver operating characteristic curve of the scores was significantly higher than that of the combined score for all five symptoms (0.855 vs. 0.794, DeLong's test p = 0.04). For the two symptoms combined, the sensitivity, specificity, and positive predictive and negative predictive values were 88.2, 73.8, 80.4, and 83.8%, respectively, with 81.7% accuracy for detecting perianal fistulizing disease. CONCLUSION: This study indicates that simple questions regarding anal pain and discharge can help accurately identify the presence of perianal fistulizing disease in patients with CD.

Transanal fistula repair for the treatment of rectovestibular fistula with normal anus in female children: a 5-year single-center experience.

PURPOSE: The purpose of this study was to review a 5-year operative experience of transanal fistula repair for the treatment of rectovestibular fistula with a normal anus in female children. METHODS: In this study, we conducted a retrospective review of children diagnosed with rectovestibular fistula with normal anus who underwent transanal fistula repair in the department of General Surgery, Children's Hospital of Chongqing Medical University. Clinical data were retrospectively analyzed. RESULTS: A total of 56 female children were included in the study. The patients' ages ranged from 1 year 10 months to 15 years 11 months, with an average age of 5 years 1 month. These children had a clear history of gas or loose stool leakage through the vestibular area, with or without a history of vestibular infection. All patients had a normal anus and underwent transanal fistula repair. Follow-up was conducted through telephone or outpatient visits for a duration of 10 months to 5 years (average follow-up duration 19 months). Three patients experienced minimal secretion from the external orifice of the vestibular fistula within two weeks after the operation, but were successfully treated with sitting bath therapy without any relapse. Another three cases had a recurrence of the fistula, and two of them underwent transanal fistula repair at our center again, resulting in a successful cure after reoperation. The remaining case has not yet undergone reoperation. In the long-term follow-up, all the children had satisfactory anal appearance, with no fecal incontinence, anorectal stenosis, or fistula infection. CONCLUSION: Transanal fistula repair is a simple, safe, and effective surgical method to treat female children with rectovestibular fistula with a normal anus.

Video-assisted anal fistula treatment (VAAFT) combined with ozonide oil dressing: standardization of technique in pediatric patients.

BACKGROUND: Anal fistula and perianal abscess are commonly acquired anorectal pathologies in children. Surgical treatment options commonly adopted are fistulotomy, fistulectomy, cutting seton placement, and more recently video-assisted anal fistula treatment (VAAFT). Optimal postoperative wound dressing remains debated. This study aimed to report our series of pediatric patients, who received VAAFT and postoperative wound dressing using ozonide oil. METHODS: All patients who underwent VAAFT between August 2018 and May 2023 were included in the study. Demographics, clinical features, pre-operative imaging, surgical details, outcome, and mid-term outcome data were retrospectively reviewed for each patient. All VAAFT procedures were performed under general anesthesia and using a 10-Ch fistuloscope. RESULTS: Thirty-three VAAFT procedures were performed in 30 patients over the study period. The median patient age was 5.7 years (range 1.75-14). Anal fistula was idiopathic in 26/30 (86.6%), iatrogenic in 2/30 (6.7%), and secondary to Crohn's disease in 2/30 (6.7%). The median duration of surgery was 23 min (range 18-40). All patients received ozonide oil dressing twice a day for 5 weeks postoperatively. The median hospital stay was 24 h (range 9-36). The median healing time was 28 days (range 17-39). With a median follow-up of 2 years (range 0.5-5), disease recurrence occurred in 3/30 (10%) patients with idiopathic fistula, who were re-operated using the same technique, with no further recurrence. No fecal incontinence or soiling was observed. CONCLUSION: Our series confirmed that VAAFT is a safe and effective technique to treat children with perianal fistula. The technique is versatile, allowing to treat fistulae of different etiologies. Postoperative course was painless and fast. Future comparative prospective studies are needed to better establish these conclusions.

Inflammatory and Malignant Uptake Along Crohn Perianal Fistula on 18 F-FDG.

ABSTRACT: Inflammatory increased metabolic activity was discovered in the left anal canal on an 18 F-FDG PET/CT scan performed for initial staging of anal squamous cell carcinoma in a patient with history of perianal Crohn disease. This increased uptake was due to a complex intersphincteric perianal fistula with supralevator extension, with a secondary, contiguous, superficial focus of squamous cell carcinoma at the anal verge that was identified on an MRI performed on the same day.

Estudio observacional nacional sobre tratamiento quirúrgico de fístula anal: ¿tiene impacto en los resultados el tipo de hospital? / National observational study about the surgical treatment of anal fistula: does the kind of hospital modify the results?

Introducción: En algunos procedimientos quirúrgicos se ha demostrado que la centralización en hospitales de alto volumen mejora los resultados obtenidos. Sin embargo, este punto aún no ha sido estudiado en los pacientes que son intervenidos por una fístula anal (FA). Material y métodos: Se realizó un estudio multicéntrico retrospectivo en el que se incluyeron los pacientes operados de FA durante el año 2019 en 56 centros españoles. Se hizo un análisis uni y multivariante para analizar la relación entre el tamaño del lugar, el porcentaje de curación de la fístula y el desarrollo de incontinencia fecal (IF). Resultados: Se incluyeron en el estudio a 1.809 pacientes. La cirugía se llevó a cabo en un hospital pequeño en 127 usuarios (7,0%), uno mediano en 571 (31,6%) y uno grande en 1.111 (61,4%). Tras un seguimiento medio de 18,9 meses, 72,3% de los participantes (1.303) se consideraron curados y 132 (7,6%) presentaron IF. El porcentaje de los rehabilitados de la FA fue de 74,8, 75,8 y 70,3% (p = 0,045) en los centros pequeño, mediano y grande, respectivamente. En cuanto a la IF no se evidenciaron diferencias significativas según el tipo de lugar (4,8, 8,0 y 7,7%, respectivamente, p = 0,473). En el análisis multivariante no se observó relación entre el tamaño del hospital y la curación de la fístula o el desarrollo de IF. Conclusión: Los resultados de curación e IF posoperatoria en los pacientes sometidos a una cirugía por FA fueron independientes del volumen hospitalario.(AU)

Introduction: Performing the surgical procedure in a high-volume center has been seen to be important for some surgical procedures. However, this issue has not been studied for patients with an Anal Fistula (AF). Material and methods: A retrospective multicentric study was performed including the patients who underwent AF surgery in 2019 in 56 Spanish hospitals. A univariate and multivariate analysis was performed to analyse the relationship between hospital volume and AF cure and Fecal Incontinence (FI). Results: 1809 patients were include. Surgery was performed in a low, middle, and high-volume hospitals in 127 (7.0%), 571 (31.6%) y 1111 (61.4%) patients respectively. After a mean follow-up of 18.9 months 72.3% (1303) patients were cured and 132 (7.6%) developed FI. The percentage of patients cured was 74.8%, 75.8% and 70.3% (p=0.045) for low, middle, and high-volume hospitals. Regarding FI, no statistically significant differences were observed depending on the hospital volume (4.8%, 8.0% and 7.7% respectively, p=0.473). Multivariate analysis didńt observe a relationship between AF cure and FI. Conclusion: Cure and FI in patients who underwent AF surgery were independent from hospital volume.(AU)

Ligadura del trayecto fistuloso interesfinteriano. Nuestros resultados / Ligation of the intersphincteric fistulatract. Our results

Introducción: existen varias técnicas para el tratamiento quirúrgico de las fístulas anales, con variables resultados. La técnica de ligadura del trayecto fistuloso interesfinteriano (LIFT) consiste en la disección del espacio entre ambos esfínteres para localizar el trayecto fistuloso y proceder a su ligadura y sección. Objetivo: evaluar nuestros resultados con la técnica de LIFT para del tratamiento de las fístulas anales transesfinterianas. Diseño: retrospectivo, observacional de corte transversal. Materiales y métodos: Se incluyeron todos los pacientes con fístulas transesfinterianas tratados con LIFT desde enero de 2013 a diciembre 2020. El seguimiento postoperatorio se realizó hasta los 2 años. Resultados: se operaron 62 pacientes. El sexo predominante fue masculino. Hubo 47 pacientes con fístulas transesfinterianas bajas y 15 con fístulas transesfinterianas altas. En todos se identificó el trayecto fistuloso realizándose ligadura de ambos cabos del trayecto interesfinteriano y se procedió a un curetaje del trayecto a través del orificio externo. Cinco pacientes (8%) presentaron dehiscencia de piel a nivel de la incisión del espacio interesfinteriano, manejado en forma conservadora. Este grupo tuvo una cicatrización mas retardada de 4 semanas. Ocurrió recidiva en 22 (35,5%) pacientes. Conclusión: La técnica de LIFT parece una alternativa eficaz y segura para el tratamiento de las fístulas transesfinterianas bajas y altas ya que no altera la anatomía ni la continencia. (AU)

Introduction: there are various techniques for the surgical treatment of anal fistulas, with variable results. The ligation procedure of the intersphincteric fistulous tract (LIFT) consists of dissecting the space between both sphincters to locate the fistulous tract and proceed to its ligation and section. Objective: to evaluate our results with the LIFT procedure for the treatment of transsphincteric anal fistulas. Design: retrospective, cross-sectional observational study. Material and methods: all patients with transsphincteric fistulas treated with LIFT from January 2013 to December 2020 were included. Postoperative follow-up was carried out for up to 2 years. Results: sixty-two patients underwent surgery. The predominant sex was male. There were 47 patients with low transsphincteric fistulas and 15 with high transsphincteric fistulas. After identifying the fistulous tract in the intersphincteric groove, both ends were ligated and the tract was cut. Finally, curettage of the tract through the external orifice was performed. Five patients (8%) presented skin dehiscence at the level of the intersphincteric groove incision, managed conservatively. This group had a longer healing time of four weeks. Recurrence occurred in 22 (35.5%) patients. Conclusion: the LIFT procedure appears to be an effective and safe alternative for the treatment of low and high transsphincteric fistulas, since it does not alter the anatomy or continence. (AU)

Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.

INTRODUCTION: Wiedemann-Steiner syndrome (WSS) is a rare autosomal-dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches. METHODS: A 3-year-old female with developmental delay, distinctive facial features, and anal fistula underwent whole exome sequencing (WES). RNA analysis was performed to assess splicing effects caused by a novel variant. RESULTS: WES identified novel heterozygous KMT2A c.5664+6T>C variant initially classified as a variant of uncertain significance. RNA analysis provided evidence of aberrant splicing (exon 20 skipping), allowing reclassification to likely pathogenic. The patient exhibited typical WSS features along with a potential novel finding of anal fistula. CONCLUSION: This report describes a novel non-canonical splice site variant in KMT2A associated with WSS. RNA analysis was critical for variant reclassification. Detailed phenotypic evaluation revealed common and expanded WSS manifestations. This case highlights the importance of combining clinical assessment, DNA testing, and RNA functional assays for the diagnosis of rare genetic disorders.

Effects of loose combined cutting seton surgery on wound healing and pain in patients with high anal fistula: A meta-analysis.

A meta-analysis was conducted to evaluate the effects of loose combined cutting seton surgery on wound healing and pain in patients with high anal fistula, aiming to provide evidence-based medical evidence for surgical method selection for these patients. A comprehensive computerized search of PubMed, Cochrane Library, EMBASE, Wanfang and China National Knowledge Infrastructure databases was conducted to collect all relevant studies published up to November 2023, evaluating the effects of loose combined cutting seton surgery in treating patients with high anal fistulas. Two researchers independently screened, extracted data, and assessed the quality of the identified studies. RevMan 5.4 software was employed for data analysis. Overall, 16 articles were included, comprising 1124 patients, with 567 undergoing loose combined cutting seton surgery and 557 undergoing simple cutting seton surgery. The analysis revealed patients undergoing loose combined cutting seton surgery had a higher rate of postoperative wound healing (97.44% vs. 81.69%, odds ratio [OR]: 7.49, 95% confidence interval [CI]: 4.29-13.10, p < 0.00001), shorter wound healing time (standardized mean differences [SMD]: -1.48, 95% CI: -1.89 to -1.08, p < 0.00001), lower postoperative wound pain scores (SMD: -2.51, 95% CI: -3.51 to -1.51, p < 0.00001), and a lower rate of postoperative complications (3.43% vs. 20.83%, OR: 0.13, 95% CI: 0.05-0.31, p < 0.00001). The current evidence suggests that compared to simple cutting seton surgery, loose combined cutting seton surgery in treating high anal fistulas can promote postoperative wound healing, shorten wound healing time, alleviate pain, and reduce the incidence of postoperative complications, making it a worthy clinical practice for widespread application.