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Human suicide commonly leads to approximately 1.3% of human mortality. Due to this dangerous and harmful character, human suicide study is growing importance. With a complex and long term of suicide origin and pathogenesis processes, different aspects of risk factors and other networks are evaluated for past history, epidemics, pathology, preve...
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Ferroptosis plays a key role in abdominal aortic aneurysm (AAA) development. This study explores whether and how ferroptosis regulates AAA progression. Ferroptosis was confirmed in human AAA tissue. In vitro experiments with primary mouse vascular smooth muscle cells (VSMCs) and abdominal aortic rings revealed that angiotensin II (Ang II) triggered...
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Migrasomes are newly identified organelles that were first discovered in 2015. Since then, their biological structure, formation process, and physiological functions have been gradually elucidated. Research in recent years has expanded our understanding of these aspects, highlighting their significance in various physiological and pathological proc...
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Gastric cancer (GC) is among the most common and aggressive malignancies worldwide, characterized by a poor prognosis. Research on its pathogenesis and progression continues to evolve. Streptococcus anginosus (S. anginosus, SA) is a Gram-positive coccus commonly found in the oral cavity and upper respiratory tract, serving as a commensal bacterium...
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Programmed cell death–ligand 1 (PD-L1)/PD-1 axis is crucial for maintenance of immune homeostasis and its impairment partially accounts for the pathogenesis of inflammatory diseases. Hence, augmenting PD-L1/PD-1 signals represents a novel strategy to prevent destructive inflammation and induce immune tolerance. Recently, we developed a new cargo by...
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Non-coding RNAs (ncRNAs), as critical regulators of gene expression, play a pivotal role in the modulation of pyroptosis and exhibit a close association with a wide range of diseases. Pyroptosis is a form of programmed cell death mediated by inflammasomes, characterized by cell membrane perforation, release of inflammatory cytokines, and a robust i...
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This case illustrates the combination of medullary thyroid carcinoma and Hashimoto's thyroiditis and emphasizes the need for careful cytological and histologic evaluation of cold nodules of the thyroid. FNAC together with Bethesda scoring and immunohistochemistry improve the accuracy of diagnosis as well as optimal management of complex thyroid pat...
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Cumulative evidence indicates that compared to HIV negative individuals, people living with HIV (PLWH) have a higher likelihood of developing depression, anxiety, and cognitive disorders. Depression, which is known to be a persistent and overwhelming feeling of sadness accompanied by a loss of interest in usual activities, is one of the most common...
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Liver fibrosis is a common complication of diabetes. Due to the crucial role of HSCs in the pathogenesis of hepatic fibrosis, they are considered a key target in anti-fibrosis research. We designed this experiment to investigate the effects of liraglutide on the proliferation of rat hepatic stellate cells under high glucose conditions and its relat...
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Interstitial lung disease (ILD) is a heterogeneous chronic form of lung disease. The pathogenesis of ILD is poorly understood and a common form of ILD, idiopathic pulmonary fibrosis (IPF) is associated with poor prognosis. There is evidence for substantial dysregulated immune responses in ILD. The microbiome is a key regulator of the immune respons...
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Epidermal Growth Factor Receptor (EGFR) signalling is thought to be involved in the pathogenesis of pemphigus vulgaris. The objective was to assess the cutaneous EGFR mRNA expression and serum soluble EGFR (sEGFR) levels among Pemphigus patients in comparison to the healthy controls. This was a cross-sectional study with a longitudinal follow up. T...
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Traditionally, the basic etiological concepts are considered in the views on the morphophysiological basis of hyperkinesis. Hyperkinesia is associated with hypotonia, a decrease in muscle tone, and hyperkinetic disorders are psychogenic and manifest in childhood. Hyperkinesia can be caused by a large number of various diseases, including metabolic...
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Uterine cancer is a leading gynecological malignancy with increasing incidence and mortality rates, particularly in regions such as the United States and China. Despite advancements in treatment, current therapeutic strategies are often limited by tumor heterogeneity, therapy resistance, and a lack of targeted treatment options. These challenges un...
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Cancer of unknown primary (CUP), a set of histologically confirmed metastases that cannot be identified or traced back to its primary despite comprehensive investigations, accounts for 2–5% of all malignancies. CUP is the fourth leading cause of cancer‐related deaths worldwide, with a median overall survival (OS) of 3–16 months. CUP has long been c...
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Many drug targets in ongoing Parkinson’s disease (PD) clinical trials have strong genetic links. While genome-wide association studies (GWAS) nominate regions associated with disease, pinpointing causal genes is challenging. Our aim was to prioritize additional druggable genes underlying PD GWAS signals. The polygenic priority score (PoPS) integrat...
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Oxidative stress and protein nonenzymatic glycation are key factors in diabetic-foot syndrome pathogenesis. Type 2 diabetes (T2DM) progression involves excessive gluconolactone (GDL) production, linked to endothelial injury and diabetic arteriosclerosis. This study explored GDL's role in diabetic-foot syndrome using high-performance liquid chromato...
Preprint
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Background The skin microbiome is increasingly recognised as a critical component to the pathogenesis of many inflammatory skin disorders including atopic dermatitis. However, few studies have looked in detail at the impact of changing both sampling methodology and 16S rRNA hypervariable region sequencing in tandem for skin microbiome analysis. Met...
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Purpose Marginal zone lymphoma (MZL) is a rare subtype of non-Hodgkin lymphoma, and its diagnosis primarily relies on pathological biopsy. The study aims to investigate the causal relationships between 41 inflammatory cytokines and MZL using a two-sample bidirectional Mendelian randomization (MR) approach, providing new insights and methodologies f...
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INTRODUCTION Biomarkers play a crucial role in understanding Alzheimer's disease (AD) pathogenesis and treatment effects. However, comparing biomarker measures without standardization and appreciating their magnitude relative to the disease can be challenging. METHODS To address this issue, we propose the CentiMarker approach, similar to Centiloid...
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Background Rheumatoid arthritis (RA) is a relatively frequent autoimmune disorder with individual and socioeconomic burden, particularly if diagnosed late. Therefore, identifying novel biomarkers for RA that assist in early diagnosis and managing plan is essential. Long noncoding RNA nuclear paraspeckle assembly transcript 1 (NEAT1), micro-RNA 21 (...
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Posttransplant lymphoproliferative disorders (PTLDs) are a well‐known complication of solid organ transplantation and allogeneic hematopoietic stem cell transplantation. The diffuse large B‐cell lymphoma subtype (PT‐DLBCL) is the most frequent monomorphic PTLD and is associated with poor prognosis. Transplant recipients have an increased risk of ab...
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Fusobacterium nucleatum is a heterogeneous bacterium that includes four subspecies. It is not only an opportunistic pathogen of periodontitis but also can be frequently detected at the lesion sites of various systemic diseases. Extensive research has underscored the significant involvement of F. nucleatum in the onset, progression, and therapeutic...
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Acne is a chronic, common skin disease that significantly reduces the quality of life of patients, which requires timely, effective and safe treatment. The review outlines a modern view of the pathogenesis and treatment methods of the disease, and substantiates the use of basic skin care products using dermatocosmetics to increase the effectiveness...
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Perianal fistulizing Crohn’s disease (pfCD) represents a severe manifestation of Crohn’s disease (CD) that often leads to significant morbidity. Clinical examination alone of perianal fistulae is unlikely to be sufficient in the context of complex pfCD, as patients are likely to have complex disease and are more likely to experience complications,...
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Diffuse pulmonary meningotheliomatosis (DPM) is a benign pulmonary disease characterised by widespread bilateral minute pulmonary meningothelial‐like nodules that often appear as multiple ground‐glass nodules on chest imaging. We present the case of a 64‐year‐old man with prostate cancer who was found to have multiple pulmonary nodules during cance...
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Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma and is characterized by a complex molecular landscape driven by genetic and epigenetic alternations. Among the crucial signaling pathways implicated in ccRCC, the Wnt/β-catenin pathway plays a significant role in tumor progression and prognosis. This review d...
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Purpose Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare, benign vasoproliferative skin disorder. The overall efficacy of current treatments remains suboptimal with frequent recurrence. Recent studies have suggested the type-2 inflammation features of ALHE and emphasized the role of T cells, which calls for further validation. Material...
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Toxoplasma gondii is an obligate intracellular apicomplexan parasite. Currently, the effective drugs for the treatment of toxoplasmosis are mainly pyrimethamine and sulfonamide, but these drugs have high toxicity and side effects, so the search for new and effective drug targets is urgent. Posttranslational modifications (PTMs) are certain chemical...
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Objectives To identify aberrantly expressed microRNAs (miRNAs) in sinonasal tissue biopsies of patients with granulomatosis with polyangiitis (GPA), associate their expression profiles to sinonasal histopathology, and assess their differential expression between subgroups of clinically proven GPA patients, healthy controls and patients exhibiting i...
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Introduction Tumour necrosis factor- α (TNF- α ) is a proinflammatory cytokine implicated in the regulation of innate and adaptive immunity. Two receptors exist for TNF- α : TNF receptors 1 (TNFR-1) and 2 (TNFR-2). TNFR-1 and TNFR-2 have been reported to be involved in pleiotropic functions. Multiple lines of evidence implicate TNF- α and its recep...
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Background: Dysregulation of microRNA expression emerges as a crucial factor in the pathogenesis of autoimmune diseases, and their importance in modulating immune responses and disease progression is evident. Methods: This study investigated the expression patterns of miRNAs in the brain tissues of C57BL/6J mice using the experimental autoimmune en...
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Choroid plexus (CP), best known for producing CSF, also regulate inflammation and clear metabolic waste to maintain brain homeostasis. CP dysfunction is implicated in Alzheimer’s Disease (AD), with MRI studies showing CP enlargement in AD. The basis for CP enlargement is unknown. We hypothesized that calcium deposition within CP, which increases wi...
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Alzheimer’s disease (AD) is a serious diseases distressing society. AD is a complex disease associated with many risk factors, such as aging, genetics, head trauma, and vascular disease. AD is also influenced by environmental factors such as heavy metals and trace metals. The pathology of AD, including amyloid-peptide (Aβ) protein, neurofibrillary...
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Periarticular cysts (PAC) at the level of the cervical spine are rare and cause difficulties in diagnosis. The article presents an observation of a 72-year-old patient with spinal canal stenosis at the C7-Th1 level due to a PAC at the C7-Th1 level on the right, compression-ischemic radiculopathy C8 on the right. For 10 months, the cause of radiculo...
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Maldevelopment of Schlemm canal (SC) and trabecular meshwork (TM) is proposed in the pathogenesis of primary congenital glaucoma (PCG). This study aims to evaluate a semi-automated segmentation algorithm of SC and TM in pediatric patients scanned using overhead-mounted optical coherence tomography (OCT). Twenty-four children (33 eyes: 17 PCG, 16 no...
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Genomic sequencing technologies have revolutionised the diagnostic approach to genodermatoses, facilitating precise diagnosis, offering unparalleled insights into pathogenesis, and guiding personalised treatment strategies. In this article, we provide an outline for clinical evaluation, how to choose the most suitable genetic test for different der...
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Cerebral small vessel disease (SVD) is diagnosed through imaging hallmarks like white matter hyperintensities (WMH). Novel hypotheses imply that endothelial dysfunction, blood-brain barrier (BBB) disruption and neurovascular inflammation contribute to conversion of normal-appearing white matter (NAWM) into WMH in hypertensive individuals. Aiming to...
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Malignant pleural mesothelioma (MPM) is an aggressive cancer of the pleural lining, primarily associated with asbestos exposure. Despite advancements in multimodal treatment, patient survival remains poor. Epithelial-mesenchymal transition (EMT) has emerged as a crucial process driving MPM pathogenesis, metastasis, and resistance to therapy. This r...
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Diffuse pulmonary ossification (DiPO) is characterised by widespread ectopic bone formation in the lungs. Idiopathic DiPO (I-DiPO) poses significant diagnostic challenges and its ossification mechanism remains unclear. Cicatricial organising pneumonia (CiOP) lesions form fibrous nodules without damaging lung structure. We investigated the histopath...
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Background Different theories exist about the pathogenesis of Chiari 1 malformations (CM-I), but none of them is thought to be exhaustive. Likewise, the role of genetic factors contributing to these conditions has not yet been elucidated, but there is a co-occurrence of CM-I with genetic syndromes such as Noonan syndrome (NS) and other RASopathies....
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The pathogenesis of major depressive disorder (MDD) is currently unclear and lacks objective diagnostic criteria. The complexity and heterogeneity of MDD also limit precise treatment. Using bioinformatics methods, we identified 18 gene signatures of MDD from the GSE98793 dataset, and validated them in an independent dataset GSE44593 (Area under the...
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Monosodium urate, calcium pyrophosphate, and basic calcium phosphate crystals are the most common types of crystals found in the joints. Each type of crystal has been associated with the onset of different joint diseases. However, the mechanisms identified for one type of crystal are often generalized to the others; thus, overlooking the specific a...
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Background Several studies have reported that the steroid dose of osteonecrosis of the femoral head (ONFH) after COVID-19 infection treatment was relatively low. However, the pathogenesis of ONFH after COVID-19 infection was not elucidated. This study aimed to analyze ONFH cases after COVID-19 infection and compare their characteristics with those...
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Background Gout, which manifests as severe inflammation caused by excessive serum urate levels and monosodium urate deposits in the joints, is associated with multiple genomic loci in Europeans. In this exploratory work, we aimed to identify additional gene variants in Melanesian families from New Caledonia, a population in which the disease is hig...
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Osteopetrosis, also known as osteosclerosis and marble-bone disease, is a rare genetic metabolic bone disorder caused by the dysplasia or dysfunction of osteoclasts, usually caused by variants of chloride voltage-gated channel 7 (CLCN7) gene. We retrospectively analyzed the clinical data of two children with osteopetrosis and their families. Whole-...
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Ubiquitin‐specific peptidase 13 (USP13) is a well‐characterised deubiquitinating enzyme that plays a critical role in the pathogenesis and progression of various human malignancies. However, the precise mechanisms by which USP13 influences hepatocellular carcinoma (HCC) cell proliferation remain to be fully elucidated. In this study, we confirmed t...
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Background Chronic enteropathies (CE) are common in cats, and alterations of the intestinal microbiota might be involved in the pathogenesis. Hypothesis/Objectives To evaluate the efficacy of a single enema fecal microbiota transplantation (FMT) in improving intestinal dysbiosis and clinical scores in cats with CE. Animals Twenty‐eight cats with...
Poster
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Interleukin-6 (IL-6) is considered an important mediator of inflammatory bowel disease. It remains unknown whether this cytokine is implicated in the pathogenesis of gastrointestinal Behçet’s disease (GIBD). We aimed to measure the levels of IL-6 and its related signaling proteins, interleukin 6 receptor (IL-6Ra) and glycoprotein 130 (gp130) in muc...
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Low-density neutrophils (LDNs) are a unique subpopulation of neutrophils, play a significant role in regulating innate and adaptive immunity in various inflammation-related diseases. Emerging evidence suggests that LDNs play a significant role in the pathogenesis and progression of various diseases, including infections, autoimmune disorders, and c...
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Subacute thyroiditis (SAT) is an inflammatory thyroid disease that is often associated with viral infections. In particular, SARS‐COV‐2 and its vaccine were found to cause SAT during the recent COVID‐19 pandemic. However, the pathogenesis, clinical features, and processes still need further profiling. Recently, there are new findings and understand...
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Primary hypertension is the most common type of hypertension, with a complex and not fully understood pathogenesis. Insulin resistance (IR) is a metabolic abnormality that has been shown to be quite prevalent among patients with hypertension in existing literature. The triglyceride-glucose (TyG) index is a reliable indicator for assessing insulin r...
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5-Methylcytosine (m ⁵ C) is one of the posttranscriptional modifications in mRNA and is involved in the pathogenesis of various diseases. However, the capacity of existing assays for accurately and comprehensively transcriptome-wide m ⁵ C mapping still needs improvement. Here, we develop a detection method named DRAM (deaminase and reader protein a...
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Background: The estrogen receptor (ER) and GATA-binding factor 3 (GATA3) are implicated in the pathogenesis and progression of various cancers, including bladder cancer. Although the relationship between GATA3 and ER in bladder cancer remains underexplored, these markers have shown promise in other neoplasms such as breast cancer. This study invest...
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Original Research Articles Circulating Neutrophil and Monocyte Ratios to High Density Lipoprotein-Cholesterol Are Elevated with Increased Triglyceride-Glucose Index Ishwarlal Jialal 1,*,† and Beverley Adams-Huet 2 1 UC Davis School of Medicine, 2616 Hepworth Drive, Davis, CA 95618, USA 2 UT Southwestern Medical Center, Dallas, TX 75390, USA * Corre...
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Autoimmune Bullous Diseases (AIBDs), characterized by the formation of blisters due to autoantibodies targeting structural proteins, pose significant therapeutic challenges. Current treatments, often involving glucocorticoids or traditional immunosuppressants, are limited by their non-specificity and side effects. Cytokines play a pivotal role in A...
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Introduction To investigate the relationship between Overactive Bladder (OAB) and inflammatory markers, including the Systemic Immune-Inflammation Index (SII), Neutrophil-to-Lymphocyte Ratio (NLR), Platelet-to-Lymphocyte Ratio (PLR), and Systemic Inflammation Response Index (SIRI). Methods This cross-sectional study drew upon data from the Nationa...
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Regorafenib, a multikinase inhibitor, frequently induces severe hand-foot skin reactions (HFSR), often requiring dose reduction or discontinuation. This case report demonstrates the successful management of HFSR in a patient with fibromyxoid sarcoma using topical Chinese medicine “Shouzuping” soaking combined with urea ointment. It suggests the uni...
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This article provides an overview of gastro‐esophageal (GERD) and laryngopharynegal (LPRD) reflux diseases in the context of obesity as a confounding entity. A detailed review of the clinical presentation, pathogenesis, diagnosis, and treatment of laryngopharyngeal reflux disease may be found elsewhere. The association between obesity and gastroeso...
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Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by persistent inflammation and epithelial cell dysfunction, but the underlying molecular mechanisms remain poorly understood. Here we show that dysregulated lipid metabolism and increased lipid peroxidation in nasal polyp epithelial cells contribute to the pathogenesis of CRSwNP. In...
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Background Demodex mites have been implicated in the pathogenesis of many dermatologic diseases, especially rosacea. Although many case reports have been published about the treatment of skin diseases caused by Demodex folliculorum mite, no relevant treatment algorithm has been developed so far. In this context, we investigated the lethal effects o...
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Ischemic stroke (IS), a multifactorial disease resulting from the complex interplay of various environmental and genetic risk factors. Neurotrophic factors (NTFs) have a potential role in IS, but the exact mechanisms are unknown. The aim of this study was to identify biomarkers associated with the occurrence and development of NTFs and to analyze t...
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Abdominal aortic aneurysm (AAA) is a life‐threatening disease featuring extensive membrane destruction in the vascular wall, which is closely associated with the phenotypic switching of vascular smooth muscle cells (VSMC). A thorough understanding of the changes in regulatory factors during the pathogenesis of VSMC phenotypic switching is essential...
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Asthma is a prevalent chronic condition, affecting an estimated 260 million people worldwide, according to the 2021 Global Burden of Disease Study. This condition significantly impacts individuals of all ages. One notable finding is that asthma prevalence among adults was higher in females than males. Recent evidence suggests that these disparities...
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Butyrate plays a crucial role in osteoarthritis (OA) development. However, the relationship between butyrate metabolism-related genes (BMRGs) and OA remains unclear. This study investigates the potential correlation between BMRGs and OA using OA-related datasets (GSE55235, GSE12021 and GSE143514). Differential expression analysis identified 38 diff...
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Glymphatic dysfunction is linked to neurodegenerative diseases, and imaging markers of this dysfunction may aid in diagnosis and prognosis. Glymphatic dysfunction has been proposed as a key mechanism in the pathogenesis of normal pressure hydrocephalus (NPH). Advanced magnetic resonance techniques, especially diffusion tensor imaging, have been use...
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Background Diabetic nephropathy (DN) is a severe microvascular complication of diabetes with a complex pathogenesis. Methods Recent studies were reviewed to explore the role of gut microbiota and its metabolites in DN development. Results Dysbiosis of gut bacteria contributes to pathological changes such as glomerular sclerosis and renal tubule i...
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Schistosomal appendicitis (SA) is a rare but serious complication of schistoso-miasis, a parasitic disease affecting over 250 million people worldwide. A recent retrospective study by Wang et al provides important insights into the clinicopath-ological characteristics of SA. The study compared 136 cases of SA to 5418 cases of non-SA over a ten-year...
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Traditionally, two main concepts are considered in the views on morphophysiological bases of pain. The first concept suggests that the skin has pain receptors, from which begin the specific afferent pathways to the brain, where there are special centers for the treatment of pain information. Another concept put forward by the Goldscheider is a non-...
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Sepsis is a syndrome of organ dysfunction caused by the invasion of pathogenic microorganisms. In clinical practice, patients with sepsis are prone to concurrent acute kidney injury, which has high morbidity and mortality rates. Thus, understanding the pathogenesis of sepsis-associated acute kidney injury is of significant clinical importance. Ferr...
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Microglia, the resident immune cells of the central nervous system, undergo metabolic reprogramming during neuroinflammation, playing a crucial role in the pathogenesis of neurological disorders such as Parkinson’s disease. This review focuses on Pyruvate Kinase M2 (PKM2), a key glycolytic enzyme, and its impact on microglial metabolic reprogrammin...
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To compare the clinical features of acute acquired concomitant esotropia (AACE) between adolescents and adults. The clinical features were stratified by age and analyzed. The adolescent group included patients aged < 18 and the adult group included those aged ≥ 18. Refractive status, the angles of esotropia, angles of deviation at near and far, dip...
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Objectives Oxidative stress occurs when free radicals accumulate at high levels in the body, affecting biological molecules. Some studies have focused on the multisystemic involvement, signs of premature aging, and the potential role of oxidative stress in the pathogenesis of myotonic dystrophy type 1 (DM1). We aimed to evaluate the levels of oxida...
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Pulmonary arterial hypertension associated with congenital heart disease (APAH-CHD) is a severely progressive condition with complex pathogenesis. The aim of this study was to evaluate the contribution of genetic variants to the development of PAH in patients with APAH-CHD. Fifteen children and twenty-seven adults diagnosed with APAH-CHD were enrol...
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Objectives To investigate the association between estimated glucose disposal rate (eGDR), a surrogate marker of insulin resistance, and Parkinson’s disease (PD) risk, and to examine the relationship between eGDR and all-cause mortality among PD patients. Methods Using data from the National Health and Nutrition Examination Survey (NHANES) 2003–201...
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Retinal detachments are ophthalmic emergencies given their potential to become a permanently blinding disorder if left untreated. This review will outline the history, pathogenesis, clinical presentation, and current and future management of retinal detachments.
Poster
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Pathogenesis, causes , diagnosis and treatment
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Acute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category. These fusions often result in enhancer hijacking, upregulation of partner pr...
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Leader cells, specialized cells that guide collective cell migration and coordinate tissue function, have been increasingly recognized for their role in maintaining tissue integrity. However, emerging evidence suggests that these cells may also serve as key targets for pathogenic invasion, particularly during viral infections such as COVID-19. The...
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Transforming growth factor-beta (TGF-β), a cytokine with near omnipresence, is an integral part of many vital cellular processes across the human body. The family includes three isoforms: Transforming growth factor-beta 1, 2, and 3. These cytokines play a significant role in the fibrosis cascade. Diabetic kidney disease (DKD), a major complication...
Preprint
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Staphylococcus aureus infects both humans and animals, and antimicrobial resistance, including multidrug resistance, complicates treatment of S. aureus infections. Understanding S. aureus population structure and the distribution of genetic lineages is central to understanding the biology, epidemiology, and pathogenesis of this organism. This study...
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Wilson’s disease (WD) is an autosomal recessive disorder characterized by abnormal copper metabolism. Disruptions in copper metabolism lead to excessive copper deposition in the liver, nervous system, kidneys, heart, and other organs, thereby inducing a range of pathological manifestations and clinical symptoms. Traditional Chinese Medicine (TCM) h...
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the death of upper and lower motor neurons. Numerous studies show that structural and functional impairments of neuromuscular junctions (NMJ) occur as early as the presymptomatic stage of ALS. NMJ involvement is independent and one of the primary events...
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Background: Squamous cell carcinoma (SCC) presents a significant challenge in dermatological pathology, necessitating comprehensive insights for effective management. This review highlights SCC’s broad aspects and focuses particularly on carcinoma cuniculatum (CC), a rare variant that warrants special attention due to its unique diagnostic and ther...