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Cureus Apr 2024Chronic intestinal schistosomiasis (CIS) refers to the long-term effects of infection with Schistosoma parasites in the intestines. This condition typically develops...
Chronic intestinal schistosomiasis (CIS) refers to the long-term effects of infection with Schistosoma parasites in the intestines. This condition typically develops after repeated or prolonged exposure to contaminated freshwater containing Schistosoma eggs. The current study reports a case of an adult male, who complained of abnormal abdominal and anal pain for a month and had a medical history of complex perianal fistulae. The endoscopic investigation revealed different degrees of hyperemia, concentrated in the sigmoid colon and rectum. Lesions were localized in the rectum and sigmoid colon. Yellow granular hyperplasia, whether concentrated or dispersed, single or multiple polyps, along with observations of mucosal congestion, edema, faint vascular striations, erosions, superficial ulcers, and scattered petechial hemorrhages were noted. Also, the segmented areas of the colon had different degrees of inflammation. The microscopic histopathological analysis showed a culprit of surgical scar tissue. The granulomas harbored Schistosome parasites at the submucosal depth. Also, an erosion in the colonic mucosal tissues accompanied by lymphoplasmacytic and micro-abscess infiltrates was seen. A Schistosoma bilharzial ova was observed in the granuloma at the submucosal level. Endoscopic and histopathological investigations are useful tools to differentiate between CIS and Crohn's disease. These tools can distinguish CIS from Crohn's disease. Early detection and treatment are essential to prevent the progression of the disease and minimize long-term complications.
PubMed: 38770490
DOI: 10.7759/cureus.58614 -
International Journal of Surgery Case... Jun 2024Tuberculosis (TB) remains a significant global health concern, particularly in low-income countries like Tunisia, despite advancements in healthcare and antibiotic...
INTRODUCTION AND IMPORTANCE
Tuberculosis (TB) remains a significant global health concern, particularly in low-income countries like Tunisia, despite advancements in healthcare and antibiotic accessibility. Gastrointestinal tuberculosis, although rare, can affect various parts of the gastrointestinal tract, with perianal involvement being exceptionally uncommon. We present a case of isolated perianal tuberculosis, emphasizing the complexities in diagnosis and management. In this context, we present a case of isolated perianal tuberculosis in a 51-year-old male, highlighting the diagnostic challenges and emphasizing the need for early recognition and comprehensive management strategies.
CASE PRESENTATION
A 51-year-old male presented with recurrent anal pain and purulent perianal discharge, without respiratory or gastrointestinal symptoms. Physical examination revealed indurated ulceration and fistulas, suggestive of recurrent anal fistulas. Biopsy and culture confirmed the diagnosis of isolated perianal tuberculosis, with no pulmonary or gastrointestinal involvement.
CLINICAL DISCUSSION
Perianal tuberculosis presents unique challenges in diagnosis and management, often mimicking other conditions like Crohn's disease. Differential diagnosis requires a multidisciplinary approach, including biopsy, acid-fast staining, polymerase chain reaction, and cultures. Successful management involves a combination of surgical intervention and antituberculous therapy, yielding favorable outcomes with minimal recurrence.
CONCLUSION
Early recognition and comprehensive management are crucial in isolated perianal tuberculosis to prevent recurrence and unnecessary surgical interventions. This case underscores the importance of considering tuberculosis in the differential diagnosis of perianal pathologies, particularly in TB-endemic regions like Tunisia. Prompt initiation of appropriate therapy is essential for favorable patient outcomes.
PubMed: 38761692
DOI: 10.1016/j.ijscr.2024.109770 -
BMC Pediatrics May 2024Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with...
Analysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant.
BACKGROUND
Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with low birthweight infants. Its clinical manefestations are similar to Acrodermatitis enteropathica (AE), which is a genetic zinc absorption disorder caused by SLC39A4 gene mutations. This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. TSZD is often misdiagnosed as AE because of their extremely similar manefestations, characterized by a typical rash. Therefore, the differention between them is still a clinical challenging.
CASE PRESENTATION
Here, we present a case of TSZD in a 4 month and 23 days female Chinese Yi-ethnic premature with AE-like skin lesions, mainly presenting periorificial, perianal and perineal crusted, eroded, erythemato-squamous eruption. Laboratory examination showed the patient's blood zinc level was significantly decreased. Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
CONCLUSIONS
The clinical manifestations of TSZD and AE are extremely similar, leading to a high rate of clinical misdiagnosis. While genetic analysis of the SLC39A4 gene is a reliable method for differentiating TSZD from AE. It is recommended that SLC39A4 gene test should be performed as far as possible in children with AE-like rash.
Topics: Humans; Zinc; Acrodermatitis; Female; Infant; Diagnosis, Differential; China; Cation Transport Proteins; Infant, Premature; Infant, Newborn; Infant, Premature, Diseases; East Asian People
PubMed: 38755601
DOI: 10.1186/s12887-024-04830-y -
Annals of Coloproctology May 2024The malignant transformation of chronic fistula in ano is rare, accounting for 3% to 11% of all anal canal malignancies. It results from long-standing inflammation and...
The malignant transformation of chronic fistula in ano is rare, accounting for 3% to 11% of all anal canal malignancies. It results from long-standing inflammation and chronic irritation. No guidelines are available for the management of these cases. We herein present a case report of a 55-year-old man who presented with a history of constipation, perianal pain, and discharging fistula in ano of 4-year duration and underwent fistula surgery with recurrence. Biopsy of the fistulous tract revealed adenocarcinoma. He received neoadjuvant chemoradiotherapy, followed by abdominoperineal excision including excision of the fistulous tract. After 18 months of follow-up, he is free of recurrence. We present this case with a review of the literature, highlighting the management strategies.
PubMed: 38752339
DOI: 10.3393/ac.2022.00752.0107 -
La Tunisie Medicale Apr 2024Treatment of complex perianal fistulas in Crohn's disease remains a challenge especially after the failure of Infliximab. (Review)
Review
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.
Topics: Humans; Crohn Disease; Rectal Fistula; Infliximab; Treatment Failure; Gastrointestinal Agents
PubMed: 38746955
DOI: 10.62438/tunismed.v102i4.4699 -
Journal of Neurosciences in Rural... 2024A rare case of aneurysm of the lateral sacral artery is reported. This 46-year-old female presented with complaints of bowel and bladder incontinence and decreased...
A rare case of aneurysm of the lateral sacral artery is reported. This 46-year-old female presented with complaints of bowel and bladder incontinence and decreased perianal sensation for the past 15 months. She underwent laminectomy and diskectomy for the diagnosis of a prolapsed disk at peripheral hospital where the surgeon was confronted with a severe and unexpected hemorrhage, and surgery was aborted without effective treatment. Prior medical history includes hypertensive kidney disease with a renal transplant eight years ago. Magnetic resonance imaging and angiographic findings were suggestive of a lateral sacral artery aneurysm. Patient with a history of renal transplant and presenting with cauda equina require a more thorough assessment, and a differential of lateral sacral artery aneurysm should always be kept in mind. Our purpose is to report the pre-operative features of the lateral sacral artery aneurysm and its treatment modalities.
PubMed: 38746530
DOI: 10.25259/JNRP_335_2023 -
Clinical and Experimental... 2024Hemorrhoids (HEM) are the most common perianal disease, but current observational studies have yielded inconsistent results in investigating the risk factors. Our...
PURPOSE
Hemorrhoids (HEM) are the most common perianal disease, but current observational studies have yielded inconsistent results in investigating the risk factors. Our further exploration of the risk factors will help prevent the disease.
PATIENTS AND METHODS
We conducted a two-sample bidirectional Mendelian randomization (MR) analysis using publicly available genome-wide association studies (GWAS) statistics from multiple consortia. The inverse-variance weighted (IVW) method was used for the primary analysis. We applied four complementary methods, including weighted median, weighted mode, MR-Egger regression, and Cochrane's Q value, to detect and correct the effects of horizontal pleiotropy.
RESULTS
Genetically determined constipation (OR = 0.97, 95% CI: 0.91-1.03, P = 0.28) and diarrhea (OR = 1.00, 95% CI: 0.99-1.01, P = 0.90) did not have a causal effect on HEM but stool frequency (OR = 1.28, 95% CI: 1.05-1.55, P = 0.01), waist-to-hip ratio adjusted for BMI (OR = 1.11, 95% CI: 1.06-1.64, P = 1.59×10-5), and order Burkholderiales (OR = 1.09, 95% CI = 1.04-1.14, p = 1.63×10-4) had a causal effect on. Furthermore, we found a significant causal effect of constipation on HEM in the reverse MR analysis (OR = 1.21, 95% CI: 1.13-1.28, P = 3.72×10-9). The results of MR-Egger regression, Weighted Median, and Weighted Mode methods were consistent with those of the IVW method. Horizontal pleiotropy was unlikely to distort the causal estimates, as indicated by the sensitivity analysis.
CONCLUSION
Our MR analysis reveals a causal association between stool frequency and waist-to-hip ratio with HEM, despite variations in results reported by observational studies. Unexpectedly, we found a relationship between the order Burkholderiales in the gut flora and HEM, although the mechanism is unclear.
PubMed: 38745764
DOI: 10.2147/CEG.S450807 -
Stem Cell Research & Therapy May 2024Perianal 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...
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 .
Topics: Humans; Crohn Disease; Male; Adult; Female; Mesenchymal Stem Cell Transplantation; Rectal Fistula; Mesenchymal Stem Cells; Young Adult; Transplantation, Homologous; Adolescent; Middle Aged; Magnetic Resonance Imaging; Treatment Outcome; Quality of Life
PubMed: 38745184
DOI: 10.1186/s13287-024-03746-9 -
Cureus Apr 2024Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disorder characterized by hemolytic anemia, thrombocytopenia, renal...
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disorder characterized by hemolytic anemia, thrombocytopenia, renal failure, fever, and neurologic dysfunction. While cases often do not present with all five characteristics (<5%), TTP can be hereditary or acquired, often due to a deficiency or dysfunction of the ADAMST13 enzyme. Here, we describe a case of infection-induced acquired TTP in a middle-aged male with urinary tract infection (UTI) and perianal abscess. Suspicion arose from hematologic abnormalities, fever, thrombocytopenia, acute renal failure, and the presence of an underlying infection. A PLASMIC score of 6 (indicating a 72% probability of ADAMTS13 deficiency) prompted ADAMTS13 level testing, revealing levels <5% with the presence of an inhibitor, confirming TTP diagnosis. Treatment with high-dose steroids and daily plasma exchange yielded a swift platelet response, necessitating only two to three days of plasma exchange. In addition, incision and drainage of the perianal abscess were performed. The patient was discharged on daily prednisone and initiated on four doses of weekly Rituximab to mitigate recurrence risk. This case underscores the importance of early suspicion and treatment in infectious triggers such as UTI/perianal abscess, offering crucial diagnostic and prognostic insights.
PubMed: 38738139
DOI: 10.7759/cureus.57950 -
Biomedical Journal May 2024Mpox is a zoonotic disease caused by the monkeypox virus (MPV), primarily found in Central and West African countries. The typical presentation of the disease before the... (Review)
Review
Mpox is a zoonotic disease caused by the monkeypox virus (MPV), primarily found in Central and West African countries. The typical presentation of the disease before the 2022 mpox outbreak includes a febrile prodrome 5-13 days post-exposure, accompanied by lymphadenopathy, malaise, headache, and muscle aches. Unexpectedly, during the 2022 outbreak, several cases of atypical presentations of the disease were reported, such as the absence of prodromal symptoms and the presence of genital skin lesions suggestive of sexual transmission. As per the World Health Organization (WHO), as of March 20, 2024, 94,707 cases of mpox were reported worldwide, resulting in 181 deaths (22 in African endemic regions and 159 in non-endemic countries). The United States Centers for Disease Control and Prevention (CDC) reports a total of 32,063 cases (33.85% of total cases globally), with 58 deaths (32.04% of global deaths) due to mpox. Person-to-person transmission of mpox can occur through respiratory droplets and sustained close contact. However, during the 2022 outbreak of mpox, a high incidence of anal and perianal lesions among MSMs indicated sexual transmission of MPV as a major route of transmission. Since MSMs are disproportionately at risk for HIV transmission, this review discusses the risk factors, transmission patterns, pathogenesis, vaccine, and treatment options for mpox among MSM and people living with HIV (PLWH). Furthermore, we provide a brief perspective on the evolution of the MPV in immunocompromised people like PLWH.
PubMed: 38734408
DOI: 10.1016/j.bj.2024.100746