Rare Presentation of Werner Syndrome in a 28-Year-Old Female Patient: A Case Report and Literature Review

Werner Syndrome (WS) is a rare autosomal recessive disorder characterized by accelerated aging and a broad spectrum of clinical manifestations. This case report presents a unique instance of WS from Pakistan, featuring a novel mutation in the WRN gene. Known as progeria adultorum, WS typically manifests post-pubertally due to mutations in the WRN gene, which plays a key role in DNA repair and genomic maintenance. A 28-year-old woman presented with non-healing bilateral leg ulcers, dry skin, and photopsia. She exhibited multiple signs of premature aging, including short stature, early hair graying, and bilateral cataracts. Her medical history included hypothyroidism, cataract surgery, and recurrent gastrointestinal infections. Genetic testing confirmed a homozygous pathogenic variant in the WRN gene, thereby establishing the diagnosis of WS. This case highlights the diagnostic challenges associated with rare genetic syndromes. The patient\u27s diverse clinical signs—such as persistent ulcers, cataracts, and failure to experience a pubertal growth spurt—were consistent with diagnostic criteria for WS. The report explores the pathophysiology of WS, particularly the role of WRN mutations in impaired DNA repair and increased genomic instability, which significantly elevates cancer risk. There is currently no specific treatment for WS; management remains supportive, focusing mainly on symptomatic relief. This case emphasizes the importance of early recognition, targeted genetic testing, and multidisciplinary care. Greater awareness and understanding of WS are essential for timely diagnosis and intervention. Furthermore, ongoing genetic research may offer valuable insights into disease mechanisms and potential therapeutic strategies, ultimately aiming to improve patient outcomes

Potential Use of Icosapent Ethyl in the Management of Acute Pancreatitis

Dear Editor, We are writing to highlight the potential use of Icosapent Ethyl (Vascepa) as a management option for acute pancreatitis. To the best of my knowledge, a limited number of studies have investigated this use, but it is not yet Food and Drug Administration (FDA) approved for this indication. Previous studies have suggested that omega-3 fatty acids, such as Eicosapentaenoic Acid (EPA) and Docosahexaenoic Acid (DHA), may have anti-inflammatory properties and could potentially be beneficial in reducing the inflammation and triglyceride levels associated with acute pancreatitis [1]. These mechanisms consist of systemic inflammation reduction by the inhibition of inflammatory mediators since omega-3 fatty acids inhibit the synthesis of pro-inflammatory cytokines such as IL-1β and IL-6 [2]. Moreover, they alter intracellular signaling pathways linked to transcription factors such as nuclear factor-κB, which impacts the expression of genes linked to inflammation [3]. Surprisingly, it helped with inflammation resolution by enhancing the removal of inflammatory cells and promoting the production of certain pro-resolving mediators in mice with pancreatitis [4]. EPA may serve as a valuable dietary supplement for individuals with risk factors for heart disease. It has potential benefits for conditions such as cardiovascular disease, diabetes, obesity, cancer, and stroke. EPA has been shown to lower inflammation, cholesterol, blood pressure, and blood clotting, and improve coronary artery function. Additionally, it can reduce inflammation and enhance body composition, supporting weight loss efforts [5]. A case study reported the use of Icosapent Ethyl as a treatment for severe acute pancreatitis in a 31-year-old male patient with abrupt acute alcoholic pancreatitis, requiring ICU admission, intubation, and mechanical ventilation, renal replacement therapy, and pressors; the patient showed remarkable improvement after initiation of icosapent Ethyl treatment via gastrostomy tube (G-tube) and had a complete recovery [1]. A randomized clinical trial (RCT) by Wang (2008) investigated the impact of omega-3 fatty acid supplementation on inflammation and systemic disease progression in severe acute pancreatitis. 40 patients with severe acute pancreatitis were randomly assigned to receive parenteral nutrition with either soybean oil or fish oil. Results revealed that patients who received fish oil had higher levels of EPA, reduced C-reactive protein (CRP) levels, and improved oxygenation index after five days of treatment. Additionally, the fish oil group had a shorter duration of continuous renal replacement therapy compared to the control group. The study concludes that supplementing parenteral nutrition with omega-3 fatty acids can effectively decrease inflammation, enhance respiratory function, and reduce the need for Continuous Renal Replacement Therapy (CRRT) in severe acute pancreatitis [6]. Currently, treatment options for acute pancreatitis caused by hypertriglyceridemia are limited as there are no FDA-approved options for intractable hyperchylomicronemia. Lifestyle modifications, such as weight loss and dietary intake limitations, are essential in treating patients with hypertriglyceridemia [7]. However, these findings suggest that Vascepa may be a breakthrough therapy for severe acute pancreatitis due to its anti-inflammatory activity and the absence of direct therapy for the disease. More research including RCTs is needed to confirm the safety and efficacy of Vascepa as a management option for acute pancreatitis

Pancreatic Rest Complicated by Actinomyces Gastric Abscess in a Young Male: A Case Report

Pancreatic rest, or ectopic pancreatic tissue, is a rare condition. It is characterized by pancreatic tissue outside its usual location, most commonly in the gastric antrum or proximal small intestine. We present a rare case of a 21-year-old male with recurrent epigastric pain, vomiting, and fever. Imaging and endoscopic ultrasound (EUS) identified a subepithelial lesion with features consistent with pancreatic rest. Subsequent fine-needle aspiration (FNA) grew Actinomyces and Streptococcus. Given persistent symptoms and incomplete resolution despite prolonged antibiotics, he underwent partial gastrectomy. This case highlights an unusual infectious complication of pancreatic rest with Actinomyces and underscores the need to consider surgical intervention in cases refractory to medical therapy

Efficacy and Safety of Penehyclidine Hydrochloride in Postoperative Nausea and Vomiting Prevention: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Introduction: Postoperative nausea and vomiting (PONV) is a common complication following anesthesia. Penehyclidine hydrochloride (PHC), an anticholinergic medication, selectively inhibits the M1 Muscarinic and M3 Muscarinic receptors involved in the nausea and vomiting pathways. This study aims to evaluate the efficacy of PHC in preventing PONV and its potential advantages over existing treatments. Methods: This study investigated the efficacy and safety of PHC in preventing PONV by analyzing randomized controlled trials (RCTs) identified through a comprehensive search of the PubMed, Scopus, Web of Science, and Cochrane Library databases up to December 2024. Results: Five RCTs involving 979 patients were included. Compared to the control group, PHC reduced the incidence of PONV in the first 24-72 hours after surgery (RR: 0.64, 95% CI [0.50, 0.82], p = 0.0004) and the requirement of rescue antiemetics (RR: 0.46, 95% CI [0.22, 0.96], p = 0.04). However, PHC significantly increased the incidence of dry mouth (RR: 2.64, 95% CI [1.98, 3.5], p < 0.00001). No significant differences were observed between the two groups regarding other secondary outcomes. Risk of bias assessment was done using RoB2. Conclusions: PHC shows promising efficacy in reducing PONV and the need for antiemetic medications. Further large-scale RCTs are necessary to verify these results and determine the optimal dose

Dual association of autoimmune encephalitis with anti-NMDAR and anti-GAD65 antibodies: A Case Report with Literature Review

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is the most common type of autoimmune encephalitis, whereas anti-glutamic acid decarboxylase 65 (antiGAD65) encephalitis is a rare autoimmune condition. The coexistence of these two conditions has been rarely reported. In this article, we will discuss this rare association through a case report and attempt to determine its main characteristics. We report the case of an 18-year-old male with no medical history, admitted to the medical Intensive Care Unit (ICU) with a decreased level of consciousness, bizarre behavior, and abnormal movements for one week. These symptoms followed the progression of initial signs such as delirium, which had begun two months earlier. Laboratory analysis revealed an inflammatory syndrome with rhabdomyolysis. Cerebral angio-MRI findings were unremarkable. The electroencephalogram (EEG) showed slow, non-reactive activity. Cerebrospinal fluid (CSF) analysis and infectious studies were normal. However, immunological testing using the immunofluorescence technique revealed the presence of anti-NMDAR antibodies in both serum and CSF, as well as anti-GAD65 antibodies in the serum. The positron emission tomography (PET) scan screening for neoplasm was negative. Therapeutically, the patient was treated with anticonvulsants, antipsychotics, intravenous immunoglobulins, corticosteroids, plasma exchanges, cyclophosphamide, and rituximab. Consequently, he demonstrated a remarkable gradual clinical improvement. This case highlights an aspect of autoimmune dysregulation that may lead to atypical and severe clinical presentations. The co-occurrence of anti-NMDAR and anti-GAD65 encephalitis is a rare condition that can lead to severe manifestations. Early diagnosis using a broad antibody panel facilitates timely and appropriate management

Prevalence of Metabolic-Associated Steatotic Liver Disease in Patients with Type 2 Diabetes with and without HIV: Retrospective Multicenter Study

Introduction: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a frequent complication in patients with Type 2 Diabetes (T2D). This study aims to evaluate the impact of HIV status on the prevalence of MASLD in patients with T2D. Methods: We utilized the TriNetX global federated health research network to perform a comparative analysis of two cohorts: T2D patients with HIV (Cohort 1) and T2D patients without HIV (Cohort 2). Propensity score matching controlled for confounders such as age, gender, Hemoglobin A1c, LDL, HDL, total cholesterol, triglycerides, BMI, and hypertension. The study was exempt from IRB review as it did not involve direct human subjects, per the University at Buffalo Institutional Review Board. Results: Initial data included 168,428 patients in Cohort 1 and 9,040,558 in Cohort 2. After matching, each cohort consisted of 166,803 patients. MASLD prevalence was 7.1% in HIV-positive T2D patients and 6.7% in HIV-negative T2D patients, with a significant risk difference (RD = 0.004, 95% CI: 0.002 to 0.006, p < 0.0001). The risk ratio (RR) was 1.062 (95% CI: 1.036 to 1.089), and the odds ratio (OR) was 1.067 (95% CI: 1.039 to 1.096). Conclusion: HIV-positive T2D patients exhibit a slightly higher risk of developing MASLD than their HIV-negative counterparts. These results underscore the need for specialized screening and management of MASLD in patients with T2D, particularly those living with HIV

Probiotics: A Promising Ally in Burn Treatment

This review explores the potential therapeutic benefits of probiotics in the treatment of burn injuries, with the aim of addressing the limitations of traditional therapeutic approaches. It offers a comprehensive analysis of burn pathophysiology, including a wide range of burn forms and the biological reactions they induce, such as pain, inflammation, fluid imbalance, and metabolic alterations. It also specifically explains the mechanisms by which probiotics contribute to the improved healing of wounds and modified gut microbiota, as they are particularly effective in these two directions. This study looks at the ways probiotic treatment can facilitate the regeneration of the skin, which is crucial for accelerating burn recovery . Furthermore, it examines the barriers and limits of probiotic therapy, such as strain regularity and safety issues in immunocompromised patients, while emphasizing the interdependent benefits of probiotics and nutrition in promoting burn healing. This review highlights the advantages of probiotics in burn management and their potential as an adjuvant therapy for enhancing treatment results and patient well-being in the burn care context

Hybrid Schwannoma of the Nasal Cavity: A Rare Case Report with Literature Review

Sinonasal schwannomas are extremely rare, comprising only 4% of all head and neck schwannomas. Their atypical location and nonspecific symptoms often result in delayed diagnosis. This case highlights a rare hybrid schwannoma in the right nasal cavity of a young female, contributing to the limited literature on sinonasal nerve sheath tumors. A 27-year-old female presented with a one-year history of right-sided nasal obstruction, rhinorrhea, and recurrent epistaxis. Examination revealed a polypoidal mass in the right nasal cavity. Laboratory investigations showed mild anemia and an elevated white cell count. Imaging identified a soft tissue mass with no bone erosion or intracranial involvement. The patient underwent Functional Endoscopic Sinus Surgery (FESS), and histopathological analysis confirmed a hybrid nerve sheath tumor (70% schwannoma, 30% neurofibroma) with positive staining for S-100 and CD34. Postoperative MRI showed no residual or recurrent mass. This case underlines the importance of considering rare neural tumors in the differential diagnosis of nasal masses. Early surgical intervention with histological confirmation ensures favorable outcomes and prevents complications associated with delayed treatment

Clinical Efficacy and Safety of Fluvoxamine in COVID-19 Patients: An Umbrella Review of Systematic Reviews and Meta-Analyses

Introduction: Fluvoxamine is an agonist for the sigma-1 receptor, through which it controls inflammation. It helps reduce the cytokine storm associated with the COVID-19 virus by regulating the production of IL-6 and gene expression. This review of systematic reviews (SRs) aims to summarize the effects of fluvoxamine in treatment of COVID-19. Methods: This umbrella review (CRD42025592203) of SRs and meta-analyses investigated the safety and efficacy of fluvoxamine for treatment in COVID-19 patients, irrespective of disease severity and age. Comprehensive searches were conducted from inception to December 12, 2024, covering PubMed, Cochrane CENTRAL, Google Scholar, and Cochrane COVID-19 resources. A qualitative synthesis of evidence was performed. The AMSTAR2 tool was used to assess the methodological quality of the included SRs. Results: Eleven reviews published in 12 publications that reported the use of fluvoxamine in COVID-19 patients were finally included as part of the synthesis. The studies reported a lower mortality rate with fluvoxamine than with placebo, but only four studies reported statistical significance. Five reported a statistically significant reduction in hospitalization risk for patients treated with fluvoxamine compared to controls. Only one review evaluated COVID-19 progression, reporting a non-significant decrease in the risk of disease progression with fluvoxamine compared to placebo. Higher dosages of fluvoxamine compared to lower doses yielded better outcomes. Conclusion: Although fluvoxamine may have potential benefits in reducing COVID-19-associated mortality and hospitalization, our findings do not support a significant role in preventing disease progression or clinical deterioration. Further research is needed to compare the efficacies of different dosages

Safety and Efficacy of Na Alginate and Mesna in Endoscopic Submucosal Dissection: A Systematic Review and Meta-analysis

Background: Sodium hyaluronate, commonly used in ESD, has drawbacks such as high cost and potential tumorigenesis. Sodium alginate (Na alginate) and Mesna offer promising alternative solutions with their viscoelastic and mucolytic properties. In this review we aimed to evaluate the safety and efficacy of Na alginate and Mesna solutions in ESD. Methods: A systematic search was conducted across multiple databases. Inclusion criteria were randomized controlled trials and observational studies assessing Na alginate and Mesna in ESD. Primary outcome included en-bloc resection rates. Secondary outcomes included adverse events such as perforation and delayed bleeding, and procedural time. Results: Eight studies involving 255 patients were included in this analysis. Overall en-bloc resection rate for sodium alginate was 97% [95% CI (93%-99%); I2:0%]. En-bloc resection subgroup analysis revealed 97% [95% CI (93%-99%); I2:0%] for 0.6% sodium alginate and 95% [95% CI (70%-99%); I2: 0%] for 0.4% sodium alginate. Moreover, En-bloc resection rate for Mesna was 98% [95%CI: 92%-100%); I2: 0%]. Delayed bleeding rates for sodium alginate were 5% [95% CI (1%-20%); I2: 65.2%]; however, after subgroup analysis delayed bleeding was 2% [95% CI (1%-6%); I2: 0%] for 0.6% sodium alginate and 22% [95% CI (8%-49%); I2:0%] for 0.4% sodium alginate. Perforation rate for 0.6% sodium alginate was 1% [95% CI (0%-5%); I2: 0%]. Conclusion: Na alginate (0.6%) and Mesna are effective and safe alternatives to sodium hyaluronate for submucosal injection in ESD. These solutions offer potential cost-effective and safer options for clinical practice, with Na alginate (0.6%) showing particularly low adverse event rates