Search Results (593)

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04–0.59]/p = 0.004, 0.09 [95% CI 0.01–0.62]/p = 0.008 and 0.23 [95% CI 0.06–0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases. Full article

Background: More than 1500 genes are associated with developmental delay and intellectual disability, with variants in many of these genes contributing to a shared phenotype. The discovery of variants of uncertain significance (VUS) found in these genes during genetic testing can lead to ambiguity and further delay in diagnosis and medical management. Phenotyping, additional genetic testing, and functional studies can all add valuable information to help reclassify these variants. Here we demonstrate the clinical utility of epigenetic signatures in prioritizing variants of uncertain significance in genes associated with developmental delay (DD) and intellectual disability (ID). Methods: Genome sequencing was performed in a male with developmental delay. He was found to have VUSs in both PHF6 and DDB1 genes, linked with Börjeson–Forssman–Lehmann syndrome (BFLS) and White–Kernohan syndrome (WHIKERS), respectively. These two disorders share a similar phenotype but have distinct inheritance patterns and molecular pathogenic mechanisms. DNA methylation profiling (DNAm) of whole blood was performed using the clinically validated EpiSign assay. Results: The proband’s methylation profile demonstrated a strong correlation with the BFLS methylation signature, supporting the PHF6 variant as a likely cause of his neurodevelopmental disorder. Conclusions: Epigenetic testing for disorders with distinct methylation patterns can provide diagnostic utility when a patient presents with variants of uncertain significance in genes associated with developmental delay. Epigenetic signatures can also guide genetic counselling and family planning. Full article

Background and Clinical Significance: Neuroleptic malignant syndrome (NMS) is a life-threatening condition usually caused by the exposure to antipsychotics. This case report presents a catatonia syndrome that may have developed in the context of a moderate NMS. Case Presentation: An 18-year-old male patient presented with a treatment-resistant catatonia syndrome that debuted 2 weeks prior to the presentation (creatin kinase levels = 4908 U/L, maximum temperature = 38.9°C, white blood count = 13.20 × 10⁹/L, Bush–Francis Catatonia Rating Scale = 30 points). Possible organic causes of catatonia were ruled out, according to the negative results obtained. The patient’s condition improved under benzodiazepine treatment and he was later discharged. After discharge, the catatonia was attributed to a possible NMS with moderate severity. The diagnosis was supported by NMS Diagnosis Criteria Score = 85 points and the presence of Levenson’s triad. Conclusions: This case highlights the concomitant manifestation of both catatonia and NMS in the same patient and the difficulty of establishing a correct diagnosis involving both entities. Full article

Deoxynojirimycin (DNJ), the first isolated iminosugar, is a natural alkaloid acting as a potent inhibitor of α-glucosidase with high nutritional value. It naturally occurs in plants (especially Morus spp.), microbes, and insects or can be synthesized. Diverse biological activities, such as antihyperglycemic, lipid-lowering, antitumor, antiviral, and anti-inflammatory, have been recognized for this compound. However, DNJ has not been approved as a food supplement until now. Several studies, also in clinics, are carried out on Morus spp. containing DNJ. Among Morus spp., Morus alba L. (white mulberry), Morus nigra L. (black mulberry), and Morus rubra L. (red mulberry) are the three main species that grow all over the world. Some spurious studies have been conducted on Reducose^® and Glubloc™, two products that contain DNJ and Morus alba, respectively. However, mulberry allergy, including respiratory allergy, airborne contact urticaria, anaphylaxis, oral allergy syndrome, and food induced urticaria, may be observed. This review aims to explore a crucial and timely question: how DNJ exerts its biological effects and what role it may play in therapeutic applications. We provide a comprehensive summary of the current understanding of DNJ’s pharmacological potential and the methods used for its production. We also report recent developments in clinical studies on Morus alba, Reducose^® and Glubloc™. Full article

Background/Objective: Dry eye syndrome affects 16 million Americans with USD 52 billion in annual healthcare costs. With large language models (LLMs) increasingly used for healthcare information, understanding their performance in delivering equitable dry eye guidance across diverse populations is critical. This study aims to evaluate and compare five major LLMs (Grok, ChatGPT, Gemini, Claude.ai, and Meta AI) regarding dry eye syndrome information delivery across different demographic groups. Methods: LLMs were queried using standardized prompts simulating a 62-year-old patient with dry eye symptoms across four demographic categories (White, Black, East Asian, and Hispanic males and females). Responses were analyzed for word count, readability, cultural sensitivity scores (0–3 scale), keyword coverage, and response times. Results: Significant variations existed across LLMs. Word counts ranged from 32 to 346 words, with Gemini being the most comprehensive (653.8 ± 96.2 words) and Claude.ai being the most concise (207.6 ± 10.8 words). Cultural sensitivity scores revealed Grok demonstrated highest awareness for minority populations (scoring 3 for Black and Hispanic demographics), while Meta AI showed minimal cultural tailoring (0.5 ± 0.5). All models recommended specialist consultation, but medical term coverage varied significantly. Response times ranged from 7.41 s (Meta AI) to 25.32 s (Gemini). Conclusions: While all LLMs provided appropriate referral recommendations, substantial disparities exist in cultural sensitivity, content depth, and information delivery across demographic groups. No LLM consistently addressed the full spectrum of dry eye causes across all demographics. These findings underscore the importance for physician oversight and standardization in AI-generated healthcare information to ensure equitable access and prevent care delays. Full article

The electrical ventricular storm (VES) is defined as multiple sustained ventricular arrhythmias arising in a short time, often refractory to standard antiarrhythmic treatment. The three pillars of the physiopathogenesis of the VES are autonomic dysfunction, triggers, and an altered ventricular substrate. Incessant or highly recurrent ventricular arrhythmia impacts the hemodynamic status by worsening heart failure and increasing mortality. A stepwise, team-based, and tailored therapeutic approach is required to stop ventricular arrhythmia and regain the hemodynamic and electric stability of the patient. The authors focused on describing all currently available therapeutic approaches for VES, intending to establish the best VES therapeutic approaches. This process involves considering the patient’s specific condition, responses to previous treatments, and the potential risks and benefits of each approach. The options range from adjusting antiarrhythmic therapy to reprogramming of the ICD, sedation, epidural anaesthesia, stellate ganglia anaesthetic block, and the use of ECMO or left ventricular assist devices and radiofrequency catheter ablation. Particular attention is paid to the detailed management of genetic primary arrhythmia syndromes like long-QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome and Wolff–Parkinson–White syndrome, early repolarisation syndrome, right ventricular arrhythmogenic dysplasia, and idiopathic ventricular fibrillation. After overcoming the acute events of VES and obtaining hemodynamic stability, the treatment should shift toward an optimal balance of heart failure therapy, controlling the substrate by revascularisation procedures and resolving other pathology-generating ventricular arrhythmias. This article provides a comprehensive overview of ESV’s current management options using the most efficient strategies known to date. Full article

Despite the current level of public immunity to SARS-CoV-2, the early inflammatory events associated with respiratory distress in COVID-19 patients are not fully elucidated. Syrian golden hamsters, facultative hibernators, recapitulate the phenotype of SARS-CoV-2-induced severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)—induced severe acute lung injury seen in patients. In this study, we describe the predominance of the innate immune response in hamsters inoculated with four different SARS-CoV-2 variants, underscoring phenotypic differences among them. Severe inflammatory lung injury was chronologically associated with acute and significant weight loss, mainly in animals inoculated with A.2 and Delta variants. Omicron-infected animals had lower overall histopathology scores compared to other variants. We highlight the central role of endothelial injury and activation in the pathogenesis of experimental SARS-CoV-2 infection in hamsters, characterised by the presence of proliferative type I and type II pneumocytes with abundant surfactant expression, thereby maintaining hyperinflated alveolar fields. Additionally, there was evidence of intrapulmonary lymphatic vessel proliferation, which was accompanied by a lack of detectable microthrombosis in the lung parenchyma. However, white microthrombi were observed in lymphatic vessels. Our findings suggest that the physiological compensatory mechanisms that maintain respiratory homeostasis in Golden Syrian hamsters prevent severe respiratory distress and death after SARS-CoV-2 infection. Full article

Background/Objectives: Erysipelas is an acute bacterial skin infection, particularly affecting the lower limbs, with a tendency to recur. Despite its clinical importance, data on demographic and epidemiological risk factors, as well as factors influencing hospitalization, remain limited. This study aimed to analyze the epidemiological and clinical characteristics of patients hospitalized with primary and recurrent erysipelas, focusing on risk factors contributing to disease onset, recurrence, and prolonged hospitalization. Methods: A retrospective single-center analysis was conducted on 239 patients hospitalized for erysipelas at the Department of Dermatology, Pediatric Dermatology, and Oncology at the Medical University of Lodz. Data collected included demographics, lesion location, laboratory markers, comorbidities, and hospitalization outcomes. Statistical analyses were performed to assess associations between risk factors, disease recurrence, and hospitalization duration. Results: The majority of erysipelas cases (85.4%) involved the lower limbs, with a higher prevalence in men. Upper extremities were mostly affected in women, especially those who had undergone breast cancer surgery. Recurrent erysipelas accounted for 75.7% of cases. Most patients (89.1%) had at least one comorbidity, with hypertension, diabetes type 2 (DM2), and obesity being the most common. Higher white blood cell (WBC) count, obesity, atrial fibrillation (AF), and the need for enoxaparin administration were independently associated with prolonged hospitalization. Dyslipidemia was significantly associated with erysipelas recurrence (p < 0.05). Conclusions: Both primary and recurrent erysipelas are associated with specific risk factors. Recurrent erysipelas may be linked to components of metabolic syndrome, particularly obesity and dyslipidemia, which emerged as a significant risk factor in this study. Hospitalization length may be prolonged by inflammation markers (WBC and CRP) and comorbidities such as AF, obesity, or the need for enoxaparin in patients with elevated thrombosis risk. Further multicenter studies with larger cohorts are needed to assess the impact of demographics, biomarkers, metabolic disorders, and treatment strategies on erysipelas recurrence and outcomes. Awareness of these risk factors is essential for effective prevention, management, and recurrence reduction. Full article

White-Nose Syndrome (WNS) has devastated insectivorous bat populations, particularly in North America, leading to severe ecological and economic consequences. Despite extensive research, many aspects of the evolutionary history, mitochondrial genome organization, and metabolic adaptations of its etiological agent, Pseudogymnoascus destructans, remain unexplored. Here, we present a multi-scale genomic analysis integrating pangenome reconstruction, phylogenetic inference, Bayesian divergence dating, comparative mitochondrial genomics, and refined functional annotation. We show that P. destructans exhibits extensive mitochondrial genome rearrangements absent in its nonpathogenic relatives from the Leotiomycetes class, suggesting a potential link between mitochondrial evolution and pathogenic adaptation. Our divergence dating analysis reveals that P. destructans separated from its Antarctic relatives approximately 141 million years ago, before adapting to bat hibernacula in the Northern Hemisphere. Additionally, our refined functional annotation significantly expands the known functional landscape of P. destructans, revealing an extensive repertoire of previously uncharacterized proteins involved in carbohydrate metabolism and secondary metabolite biosynthesis—key processes that likely contribute to its pathogenic success. By providing new insights into the genomic basis of P. destructans adaptation and pathogenicity, our study refines the evolutionary framework of this fungal pathogen and creates the foundation for future research on WNS mitigation strategies. Full article

Background: Osteogenesis imperfecta (OI) is a rare genetic connective tissue disorder characterized by bone fragility, most often caused by pathogenic variants in type I collagen genes. In this context, we aimed to describe the clinical and epidemiological characteristics of patients with OI who were hospitalized for coronavirus disease (COVID)-19 in Brazil between 2020 and 2024. Methods: We conducted a retrospective descriptive analysis using data from the Brazilian Unified Health System (SUS, which stands for the Portuguese Sistema Único de Saúde) through the Open-Data-SUS platform. Patients with a confirmed diagnosis of OI and hospitalization due to COVID-19 were included. Descriptive statistical analysis was performed to evaluate demographic, clinical, and outcome-related variables. We included all hospitalized COVID-19 cases with a confirmed diagnosis of OI between 2020 and 2024. Results: Thirteen hospitalized patients with OI and COVID-19 were identified. Most were adults (9; 69.2%), male (7; 53.8%), self-identified as White (9; 69.2%), and all were residents of urban areas (13; 100.0%). The most frequent symptoms were fever (10; 76.9%), cough (9; 69.2%), oxygen desaturation (9; 69.2%), dyspnea (8; 61.5%), and respiratory distress (7; 53.8%). Two patients had heart disease, one had chronic lung disease, and one was obese. As for vaccination status, five patients (38.5%) had been vaccinated against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Four patients (30.8%) required admission to an intensive care unit (ICU), and six (46.2%) required noninvasive ventilatory support. Among those admitted to the ICU, only two required invasive mechanical ventilation. The clinical outcome was death in two cases (15.4%). Both patients were male, White, and had not been vaccinated against SARS-CoV-2. One was 47 years old, was not admitted to the ICU, but required noninvasive ventilation. Despite the underlying condition most patients had favorable outcomes, consistent with an international report. Conclusions: This is the first report to describe the clinical and epidemiological profile of patients with OI hospitalized for COVID-19 in Brazil, providing initial insights into how a rare bone disorder intersects with an acute respiratory infection. The generally favorable outcomes observed—despite the underlying skeletal fragility—suggest that individuals with OI are not necessarily at disproportionate risk of severe COVID-19, particularly when appropriately monitored. The occurrence of deaths only among unvaccinated patients underscores the critical role of SARS-CoV-2 vaccination in this population. Although pharmacological treatment data were unavailable, the potential protective effects of bisphosphonates and vitamin D merit further exploration. These findings support the need for early preventive strategies, systematic vaccination efforts, and dedicated clinical protocols for rare disease populations during infectious disease outbreaks. Full article

Obesity is not only an aesthetic problem but also an important comorbidity in metabolic syndrome and other types of pathologies. Currently discussed adjuvants are turmeric and curcumin, used as food supplements. Starting from synthesis in turmeric plant up to the use of turmeric as a spice, a significant amount of turmeric and its derivatives are lost during the processing procedure. In oral administration, the reduced bioavailability of these compounds must be taken into account, an aspect that can be improved by using different combinations and dosages. As for their pharmacodynamic effects, through its antioxidant and anti-inflammatory properties, curcumin improves mitochondrial function and promotes the browning of white adipose tissue. Another mechanism of action of curcumin in weight loss is enzymatic modulation, leading to a decrease in the activity of key enzymes involved in lipogenesis and an increase in the activity of lipolytic enzymes. These properties are enhanced by the synergistic action of the other polyphenols present in turmeric, especially calebin A, p-coumaric acid, caffeic acid and ferulic acid. Summarizing these effects, curcumin is a promising food supplement, opening new directions for further research to discover possibilities to improve or even eliminate the calamity of obesity that is currently wreaking havoc. Full article

Background: Immune checkpoint inhibitors (ICIs) transformed cancer treatment, producing significant survival benefits. However, ICIs can trigger toxicities called immune-related adverse events (irAEs), including inflammatory arthritis (IA) and polymyalgia rheumatica (PMR)-like syndromes. Our study aimed to systematically further characterize musculoskeletal ultrasound (MSKUS) findings in patients with ICI-IA and ICI-PMR, collectively referred to as “MSK-irAEs”, and explore the role of US in guiding treatment. Methods: The authors conducted a comprehensive chart review for patients receiving ICIs undergoing MSKUS at our center’s rheumatology clinics. US examinations were performed and reviewed by two MSKUS-certified rheumatologists. Descriptive statistics were performed to summarize demographic, clinical, and treatment-related variables. US findings were categorized with a novel scoring system: 0—no signs of inflammatory arthropathy or tendinopathy, 1—potential signs of inflammation (grayscale ≥ 2, effusion without power Doppler, synovial hypertrophy in the joint), and 2—active inflammation in joints and/or tendons (characterized by power Doppler) and signs of inflammation. Results: Twenty-three patients were included. The median age was 63 years, 52% were male, and 87% were White. Melanoma was the most common cancer (48%). MSK-irAEs were diagnosed in nineteen (83%), with MSKUS showing inflammation in seventeen (74%). Sixteen (70%) received escalation in MSK-irAE treatment after MSKUS. Four (17%) had erosive disease due to MSK-irAEs, while one had erosive osteoarthritis. Individuals with inflammatory erosive changes experienced prolonged intervals between symptom onset and MSKUS, ranging from 17 to 82 months, suggesting that erosions may reflect chronic, under-recognized inflammation. On MSK-irAE therapy, nine (47%) experienced symptomatic improvement, five (26%) achieved resolution, and in four (21%) cases, it was too early to assess the response. MSKUS detected other causes of MSK symptoms besides MSK-irAEs in several patients, allowing ICI resumption in one. Conclusions: Our study highlights the clinical utility of MSKUS not only as a diagnostic tool but also to guide therapeutic decision-making. Full article

Background: This study intended to fully assess the predictive efficiency of different clinical laboratory parameters for the mortality risk in severe fever with thrombocytopenia syndrome (SFTS). Methods: We systematically searched the Web of Science, PubMed, Cochrane Library, and Embase up to 13 December 2024 for studies on the association of laboratory parameters with SFTS mortality. Two investigators were independently responsible for the study screening and data extraction, and they assessed the study quality using the Newcastle–Ottawa Scale (NOS). Stata17.0 was adopted for the meta-analyses. Results: We finally included 33 observational studies involving 9502 participants (1799 deaths and 7703 survivors). The results showed that increases in the viral load (odds ratio (OR) 1.93, 95% confidence interval (CI) 1.56–2.38), neutrophil-to-lymphocyte ratio (hazard ratio (HR) 1.31, 95% CI 1.13–1.51), neutrophil percentage (HR 1.02, 95% CI 1.01–1.03), white blood cells (HR 1.06, 95% CI 1.01–1.11), activated partial thromboplastin time (OR 1.07, 95% CI 1.04–1.09), prothrombin time (OR 1.31, 95% CI 1.03–1.65), creatine kinase-myocardial band (OR 1.01, 95% CI 1.01–1.02), and procalcitonin (HR 1.27, 95% CI 1.10–1.47) greatly increased the SFTS mortality, while decreases in the lymphocyte percentage (HR 0.96, 95% CI 0.94–0.98), platelets (HR 0.98, 95% CI 0.97–0.99), and albumin (HR 0.91, 95% CI 0.86–0.96) also greatly increased the SFTS mortality; the results were all statistically significant (p < 0.05). Conclusion: Abnormalities of laboratory parameters (e.g., viral load, blood routine, coagulation, multi-organ dysfunction, and inflammation indicators) are good predictors of SFTS mortality, which can provide valuable references in clinical practice. Full article

Background and Objectives: Irritable bowel syndrome (IBS) is a prevalent functional gastrointestinal disorder with diverse subtypes. Recent evidence has suggested a link between vitamin D deficiency and IBS; however, the associations between vitamin D levels, IBS subtypes, and hematological–biochemical parameters remain unclear. The aim of this research was to investigate the associations between vitamin D status, IBS subtypes, and sex, along with their relationships with biochemical and hematological parameters. Materials and Methods: This retrospective study included 240 patients diagnosed with IBS according to the Rome IV criteria at Van Yüzüncü Yıl University Medical Faculty Hospital. The patients were classified as diarrhea-predominant (IBS-D), constipation-predominant (IBS-C), or mixed-type (IBS-M). The patients’ serum vitamin D levels and hematological (hemoglobin, white blood cell and platelet counts, and mean corpuscular volume) and biochemical (ferritin, iron, calcium, magnesium, and vitamin B12 levels) parameters were evaluated at baseline and after vitamin D supplementation. Sex-related differences were assessed. Results: Baseline vitamin D levels were low in all IBS subtypes, with no significant differences between the groups. Vitamin D supplementation resulted in a significant increase in serum vitamin D levels across all subtypes (p = 0.001). No significant correlations were identified between vitamin D levels and hematological or biochemical parameters. Sex differences in vitamin D levels were only significant in the IBS-M group, both at baseline and post-treatment (p < 0.05). Conclusions: Vitamin D deficiency is prevalent among all IBS subtypes and significantly improves with supplementation, independently of the subtype. Although no associations were found between vitamin D levels and laboratory parameters, the observed sex differences in patients with IBS-M highlight the need for further research into potential sex-related pathophysiological mechanisms. These findings support the integration of routine vitamin D assessment and supplementation into the clinical management of IBS, especially in patients with the IBS-M subtype and female sex, to potentially improve patient outcomes. Full article

Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the SOX10 gene: c.393C>G (p.Asn131Lys) in a five-year-old female patient presenting with profound sensorineural hearing loss (SNHL), dystopia canthorum, and a white forelock; and c.535A>T (p.Lys179Ter) in a nine-year-old male patient presenting with profound SNHL, dystopia canthorum, and Hirschsprung’s disease. Temporal bone imaging revealed abnormalities in the inner ear structure in both patients. The genotypic and phenotypic characteristics were meticulously delineated, incorporating the deleterious effects of these variants, as evaluated by multiple predictive tools and the American College of Medical Genetics and Genomics (ACMG) criteria. In addition, structural characterizations were also presented using AlphaFold. The findings of this study contribute valuable genetic data to the limited literature on type 4 WS within this ethnic group and highlight the importance of genetic testing and multidisciplinary care for this rare disorder in settings with limited resources. Full article