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Med (New York, N.Y.) Apr 2024Crohn's disease complicated by perianal fistulae is more prevalent and severe in patients of African ancestry.
BACKGROUND
Crohn's disease complicated by perianal fistulae is more prevalent and severe in patients of African ancestry.
METHODS
We profiled single cells from diverse patients with Crohn's disease with perianal fistula from colorectal mucosa and fistulous tracts. Immunofluorescence was performed to validate predicted cell-cell interactions. Unstimulated monocytes were chronically cultured in diverse cohorts. A subset was analyzed by single-nucleus RNA + ATAC sequencing.
FINDINGS
Fistulous tract cells from complete proctectomies demonstrated enrichment of myeloid cells compared to paired rectal tissues. Ligand-receptor analysis highlights myeloid-stromal cross-talk and cellular senescence, with cellular co-localization validated by immunofluorescence. Chitinase-3 like-protein-1 (CHI3L1) is a top upregulated gene in stromal cells from fistulae expressing both destructive and fibrotic gene signatures. Monocyte cultures from patients of African ancestry and controls demonstrated differences in CHI3L1 and oncostatin M (OSM) expression upon differentiation compared to individuals of European ancestry. Activating protein-1 footprints are present in ATAC-seq peaks in stress response genes, including CHI3L1 and OSM; genome-wide chromatin accessibility including JUN footprints was observed, consistent with reported mechanisms of inflammatory memory. Regulon analyses confirm known cell-specific transcription factor regulation and implicate novel ones in fibroblast subsets. All pseudo-bulked clusters demonstrate enrichment of genetic loci, establishing multicellular contributions. In the most significant African American Crohn's genetic locus, upstream of prostaglandin E receptor 4, lymphoid-predominant ATAC-seq peaks were observed, with predicted RORC footprints.
CONCLUSIONS
Population differences in myeloid-stromal cross-talk implicate fibrotic and destructive fibroblasts, senescence, epigenetic memory, and cell-specific enhancers in perianal fistula pathogenesis. The transcriptomic and epigenetic data provided here may guide optimization of promising mesenchymal stem cell therapies for perianal fistula.
FUNDING
This work was supported by grants U01DK062422, U24DK062429, and R01DK123758.
PubMed: 38663404
DOI: 10.1016/j.medj.2024.03.021 -
World Journal of Clinical Cases Apr 2024This case report presents the rare occurrence of hematochezia due to an internal iliac artery aneurysm leading to an arterioenteric fistula, expanding the differential...
BACKGROUND
This case report presents the rare occurrence of hematochezia due to an internal iliac artery aneurysm leading to an arterioenteric fistula, expanding the differential diagnosis for gastrointestinal bleeding. It emphasizes the importance of considering vascular origins in cases of atypical hematochezia, particularly in the absence of common gastrointestinal causes, and highlights the role of imaging and multidisciplinary management in diagnosing and treating such unusual presentations.
CASE SUMMARY
A 75-year-old man with a history of hypertension presented with 12 d of hematochezia, experiencing bloody stools 7-8 times per day. Initial computed tomography (CT) scans revealed an aneurysmal rupture near the right internal iliac artery with suspected hematoma development. Hemoglobin levels progressively decreased to 7 g/dL. Emergency arterial angiography and iliac artery-covered stent placement were performed, followed by balloon angioplasty. Despite initial stabilization, minor rectal bleeding and abdominal pain persisted, leading to further diagnostic colonoscopy. This identified a neoplasm and potential perforation at the proximal rectum. An exploratory laparotomy confirmed the presence of a hematoma and an aneurysm invading the rectal wall, necessitating partial rectal resection, intestinal anastomosis, and ileostomy. Postoperative recovery was successful, with no further bleeding incidents and normal follow-up CT and colonoscopy results after six months.
CONCLUSION
In cases of unusual gastrointestinal bleeding, it is necessary to consider vascular causes for effective diagnosis and intervention.
PubMed: 38660556
DOI: 10.12998/wjcc.v12.i11.1980 -
World Journal of Clinical Cases Apr 2024When an anorectal foreign body is found, its composition and shape should be evaluated, and a timely and effective treatment plan should be developed based on the...
BACKGROUND
When an anorectal foreign body is found, its composition and shape should be evaluated, and a timely and effective treatment plan should be developed based on the patient's symptoms to avoid serious complications such as intestinal perforation caused by displacement of the foreign body.
CASE SUMMARY
A 54-year-old male was admitted to our outpatient clinic on June 3, 2023, due to a rectal foreign body that had been embedded for more than 24 h. The patient reported using a glass electrode tube to assist in the recovery of prolapsed hemorrhoids, however, the electrode tube was inadvertently inserted into the anus and could not be removed by the patient. During hospitalization, the patient underwent surgery, and the foreign body was dragged into the rectum with the aid of colonoscopy. The anus was dilated with a comb-type pulling hook and an anal fistula pulling hook to widen the anus and remove the foreign body, and the local anal symptoms were then relieved with topical drugs. The patient was allowed to eat and drink, and an entire abdominal Computed tomography (CT) and colonoscopy were reviewed 3 d after surgery. CT revealed no foreign body residue and colonoscopy showed no metal or other residues in the colon and rectum, and no apparent intestinal tract damage.
CONCLUSION
The timeliness and rationality of the surgical and therapeutic options for this patient were based on a literature review of the clinical signs and conceivable conditions in such cases. The type, material and the potential risks of rectal foreign bodies should be considered.
PubMed: 38660553
DOI: 10.12998/wjcc.v12.i11.1990 -
World Journal of Clinical Cases Apr 2024Rectocutaneous fistulae are common. The infection originates within the anal glands and subsequently extends into adjacent regions, ultimately resulting in fistula...
BACKGROUND
Rectocutaneous fistulae are common. The infection originates within the anal glands and subsequently extends into adjacent regions, ultimately resulting in fistula development. Cellular angiofibroma (CAF), also known as an angiomyofibroblastoma-like tumor, is a rare benign soft tissue neoplasm predominantly observed in the scrotum, perineum, and inguinal area in males and in the vulva in females. We describe the first documented case CAF that developed within a rectocutaneous fistula and manifested as a perineal mass.
CASE SUMMARY
In the outpatient setting, a 52-year-old male patient presented with a 2-year history of a growing perineal mass, accompanied by throbbing pain and minor scrotal abrasion. Physical examination revealed a soft, well-defined, non-tender mass at the left buttock that extended towards the perineum, without a visible opening. The initial assessment identified a soft tissue tumor, and the laboratory data were within normal ranges. Abdominal and pelvic computed tomography (CT) revealed swelling of the abscess cavity that was linked to a rectal cutaneous fistula, with a track-like lesion measuring 6 cm × 0.7 cm in the left perineal region and attached to the left rectum. Rectoscope examination found no significant inner orifices. A left medial gluteal incision revealed a thick-walled mass, which was excised along with the extending tract, and curettage was performed. Histopathological examination confirmed CAF diagnosis. The patient achieved total resolution during follow-up assessments and did not require additional hospitalization.
CONCLUSION
CT imaging supports perineal lesion diagnosis and management. Perineal angiofibromas, even with a cutaneous fistula, can be excised transperineally.
PubMed: 38660078
DOI: 10.12998/wjcc.v12.i10.1778 -
Wiener Klinische Wochenschrift May 2024
Topics: Humans; Crohn Disease; Rectal Fistula; Treatment Outcome; Multicenter Studies as Topic; Prospective Studies; Male; Female; Cohort Studies
PubMed: 38652312
DOI: 10.1007/s00508-024-02363-z -
Case Reports in Gastroenterology 2024Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea,...
INTRODUCTION
Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea, early satiety, abdominal pain, and gastrointestinal bleeding. Although histologically benign, such a tumor may become locally invasive, and aggressive forms contribute to significant morbidity and mortality.
CASE PRESENTATION
We report the case of a 52-year-old West African male with a 1-year history of intermittent hematochezia and intermittent bloating. Colonoscopy revealed a 4-mm rectal polyp and internal hemorrhoids. Esophagogastroduodenoscopy revealed a severe duodenal stricture 4-5 cm distal to the ampulla. Further work-up with contrast-enhanced computed tomography of the abdomen and pelvis revealed a 5.0 × 3.7 × 4.3-cm mass within the mesentery, encasing the distal portion of the duodenum. Exploratory laparotomy was performed, and the mass was excised from the jejunum. Histopathology findings and immunohistochemical analysis revealed the diagnosis to be mesenteric fibromatosis (desmoid tumor), positive for nuclear β-catenin and SMA, and negative expression of STAT6, desmin, caldesmon, pan-cytokeratin, or c-KIT. The Ki67 index is <1%.
CONCLUSION
This case report highlights the diagnostic challenges of mesenteric fibromatosis due to its nonspecific clinical presentation. Recognizing uncommon presentations of mesenteric fibromatosis and risk factors aids in early diagnosis, management, and treatment. Importantly, this also aids in the prevention of complications such as intestinal obstruction, bowel ischemia, and fistula formation.
PubMed: 38645406
DOI: 10.1159/000538489 -
Journal of Crohn's & Colitis Apr 2024Perianal fistulizing Crohn's disease (PFCD) is an aggressive phenotype of Crohn's disease defined by frequent relapses and disabling symptoms. A novel consensus...
BACKGROUND AND AIMS
Perianal fistulizing Crohn's disease (PFCD) is an aggressive phenotype of Crohn's disease defined by frequent relapses and disabling symptoms. A novel consensus classification system was recently outlined by the TOpCLASS consortium that seeks to unify disease severity with patient-centered goals but has not yet been validated. We aimed to apply this to a real-world cohort and identify factors that predict transition between classes over time.
METHODS
We identified all patients with PFCD and at least one baseline and one follow-up pelvic (pMRI). TOpCLASS classification, disease characteristics, and imaging indices were collected retrospectively at time periods corresponding with respective MRIs.
RESULTS
We identified 100 patients with PFCD of which 96 were assigned TOpCLASS Classes 1 - 2c at baseline. Most patients (78.1%) started in Class 2b, but changes in classification were observed in 52.1% of all patients. Male sex (72.0%, 46.6%, 40.0%, p = 0.03) and prior perianal surgery (52.0% vs 44.6% vs 40.0%, p = 0.02) were more frequently observed in those with improved class. Baseline pMRI indices were not associated with changes in classification, however, greater improvements in mVAI, MODIFI-CD, and PEMPAC were seen among those who improved. Linear mixed effect modeling identified only male sex (-0.31, 95% CI -0.60 to -0.02) with improvement in class.
CONCLUSION
The TOpCLASS classification highlights the dynamic nature of PFCD over time, however, our ability to predict transitions between classes remains limited and requires prospective assessment. Improvement in MRI index scores over time was associated with a transition to lower TOpCLASS classification.
PubMed: 38642332
DOI: 10.1093/ecco-jcc/jjae056 -
Pediatric Surgery International Apr 2024Long-term urinary outcomes after anorectal malformation (ARM) repair are affected by surgical approach and sacral anomalies. This study aimed to compare...
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.
Topics: Humans; Infant; Rectum; Anorectal Malformations; Urinary Bladder, Neurogenic; Laparoscopy; Treatment Outcome; Rectal Fistula; Urinary Fistula; Urethral Diseases; Postoperative Complications; Urethra; Retrospective Studies; Anal Canal
PubMed: 38641738
DOI: 10.1007/s00383-024-05692-2 -
Urology Case Reports May 2024We report a patient with history of recurrent invasive rectal adenocarcinoma complicated by obstructive uropathy requiring nephro-ureteral catheter placement. Two years...
We report a patient with history of recurrent invasive rectal adenocarcinoma complicated by obstructive uropathy requiring nephro-ureteral catheter placement. Two years later during a regular catheter exchange, the patient developed unusually bloody urine raising suspicion for possible vascular injury. CT angiogram and conventional angiogram were negative. However, an antegrade nephrostogram revealed a fistulous communication between the right ureter and the right internal iliac artery. Subsequently, the artery was sacrificed using detachable coils. We discuss the rare encounter of a silent arterio-ureteral fistula, the value of antegrade nephrostogram as a diagnostic tool, and the management options in such scenario.
PubMed: 38623493
DOI: 10.1016/j.eucr.2024.102712 -
Veterinary Dermatology Apr 2024Perianal fistulas are painful ulcers or sinus tracts that disproportionately affect German shepherd dogs and are proposed as a spontaneous animal model of fistulising...
BACKGROUND
Perianal fistulas are painful ulcers or sinus tracts that disproportionately affect German shepherd dogs and are proposed as a spontaneous animal model of fistulising Crohn's disease.
OBJECTIVES
To characterise the rectal and cutaneous microbiota in German shepherd dogs with perianal fistulas and to investigate longitudinal shifts with lesion resolution during immunomodulatory therapy.
ANIMALS
Eleven German shepherd dogs with perianal fistulas and 15 healthy German shepherd dogs.
MATERIALS AND METHODS
Affected dogs were evaluated and swabbed at three visits, 30 days apart, while undergoing treatment with ciclosporin and ketoconazole. Healthy German shepherd dogs were contemporaneously sampled. Sites included the rectum, perianal skin and axilla. The microbiome was evaluated following sequencing of the V4 hypervariable region of the 16S ribosomal RNA (rRNA) gene.
RESULTS
Alpha diversity was not significantly different between healthy and affected dogs at each of the three body sites (p > 0.5), yet rectal and perianal beta diversities from affected dogs differed significantly from those of healthy dogs at Day 0 (p = 0.004). Rectal and perianal relative abundance of Prevotella spp. increased and perianal Staphylococcus spp. relative abundance decreased in affected dogs over time, coincident with lesion resolution.
CONCLUSIONS AND CLINICAL RELEVANCE
Changes in lesional cutaneous and rectal microbiota occur in German shepherd dogs with perianal fistulas and shift over time with lesion resolution during immunomodulatory therapy. Further investigations of the role of cutaneous and enteric microbiota in the pathogenesis of perianal fistulas, and whether manipulation of microbial populations may ameliorate disease, are needed.
PubMed: 38616572
DOI: 10.1111/vde.13249