Search Results (282)

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease involving multiple organs and the production of anti-double-stranded DNA (anti-dsDNA) antibodies. This study evaluated the associations between anti-dsDNA levels and smoking, oral corticosteroid (OCS) use, and immunosuppressive therapy in SLE patients. A retrospective monocentric analysis was performed on 119 SLE patients. Data on smoking history, OCS dosage, and immunosuppressive treatments were collected. Anti-dsDNA levels were assessed using fluorescent enzyme immunoassays and confirmed via indirect immunofluorescence. Smoking was significantly associated with higher anti-dsDNA levels (Spearman’s ρ = 0.292, p = 0.0014). Logistic regression identified pack-years (PPY) as a predictor of high anti-dsDNA levels (≥75 U/mL), with a 50% probability at 12.51 PPY and a 75% probability at 17.65 PPY (p < 0.001). OCSs were used by 58.82% of patients, with a median prednisone-equivalent dose of 5.0 mg; higher OCS doses correlated weakly but significantly with anti-dsDNA levels (R² = 0.066, p < 0.001). Anti-dsDNA levels differed across treatments (p = 0.027): MTX vs. AZA/MMF, and belimumab vs. AZA/MTX. Smoking, OCS use, and immunosuppressants influence anti-dsDNA levels. Belimumab showed greater reduction compared to conventional therapies. Personalized treatment strategies are needed, considering the effects of smoking and cortico-steroids. Full article

The functional beverage sector has experienced a remarkable transformation driven by evolving consumer decision-making patterns emphasizing therapeutic benefits alongside taste preferences. This comprehensive narrative review investigates how consumer psychology, neurobiological processes, and scientific product development converge through a hierarchical framework illustrating their dynamic interactions. Today’s consumers exhibit unprecedented sophistication when assessing bioactive ingredients, conducting independent research using scientific databases rather than relying on conventional marketing. Our analysis explores mechanisms underlying habit development, behavioral adaptation, and social proof factors driving functional beverage integration into daily routines. We trace evolution from broad-spectrum wellness drinks toward personalized nutrition solutions, recognizing individual metabolic requirements, with consumers viewing these products as preventive health investments requiring evidence-based validation. Key findings underscore the importance of clinically validated formulations at therapeutic dosages, nutritional transparency, and understanding consumer psychology for fostering lasting consumption behaviors driven by cost–benefit analysis. Results indicate future innovations must merge sophisticated bioactive delivery technologies with insights into consumer information-seeking patterns, social validation processes, and evidence-driven decision-making mechanisms. Full article

Eczema is the most common skin disease among Hong Kong’s adults and children, affecting an estimated 30% of the total population. Western and Chinese medicinal ointments are the usual treatment for eczema. Conventional Western medicinal ointments are topical corticosteroids and non-steroidal agents. Eczema skin products include “Aveeno Parabens Lotion”, “Cerave Moisturizing Cream”, and “Cetaphil Lotion”. However, these are not a long-term solution for managing significant erythema. Chinese medicinal ointments are based on adjusting the formula, including the ingredients and amount, to address an individual’s skin condition and other factors that may be worsening symptoms. This approach aims to regulate the immune system and make it less reactive to environmental and food allergies. This approach is mainly for local topical use. The ingredients of eczema skin products should include Coptis chinensis Franch, Phellodendron chinense Schneid, Angelica sinensis (Oliv.) Diels, Rehmannia glutinosa Libosch, Curcuma longa L., and sesame oil. Chinese medicinal ointments are natural ingredients, personalized formulas, and concerned with holistic healing, while Western medicinal ointments provide fast-acting relief, targeted action, and a standardized dosage. Methods: Nine electronic databases, such as WanFang Data, PubMed, Science Direct, Scopus, Web of Science, Springer Link, SciFinder, and the China National Knowledge Infrastructure (CNKI), were searched mainly within the past twenty years and without any language restrictions. The inclusion criteria were the keywords “Western medicine and ointment”, “Chinese medicine and ointment”, and “Western and Chinese medicines and ointment”. Differences in effectiveness between Western and Chinese ointments were evaluated to determine if they had functions against eczema. This review included an analysis and summary of all relevant papers. Results: Western medicinal ointments are topical corticosteroids, and they exert their pharmacological activities via many mechanisms, including anti-inflammatory, immunosuppressive, antiproliferative, and vasoconstrictive effects on eczema. Similarly, Chinese medicinal ointments have the same pharmacological functions, but they may focus on the immune system for the treatment of inflammatory and skin conditions, including erythema, edema, dryness, desquamation, and callus exfoliation. Conclusion: Based on the clinical research, the effectiveness rate of integrated Chinese and Western medicines was 88%, which was greater than the 70% rate for using Western medicine alone to treat eczema. Western and Chinese medicinal ointments have different active ingredients with advantages and disadvantages for eczema or when acting as skin care products. The most important thing is knowing “How” to use Western and Chinese medicinal ointments properly, especially for some formulations of Chinese ointments. It may be beneficial to consider the pharmacokinetic studies of herbal ingredients, which offer personalized formulas tailored to individual body constitutions and conditions, as well as to emphasize holistic healing, addressing both symptoms and underlying imbalances in the body. Much more work needs to be carried out, such as safety assessments of these ointments for use as skin care products for eczema. Full article

Background/Objectives: Myopia is a growing global health concern, especially among school-aged children in East Asia. Topical atropine is a key treatment for pediatric myopia control, but individual responses vary, with some children showing rapid progression despite higher doses. This retrospective observational study aims to develop an interpretable machine learning model to predict individualized treatment responses and support personalized clinical decisions, based on data collected over a 3-year period without a control group. Methods: A total of 1545 pediatric eyes treated with topical atropine for myopia control at a single tertiary medical center are analyzed. Classification and regression tree (CART) is constructed to predict changes in spherical equivalent (SE) and identify influencing risk factors. These factors are mainly received treatments for myopia including atropine dosage records, treatment duration, and ophthalmic examinations. Furthermore, decision rules that closely resemble the clinical diagnosis process are provided to assist clinicians with more interpretable insights into personalized treatment decisions. The performance of CART is evaluated by comparing with the benchmark model of least absolute shrinkage and selection operator regression (Lasso) to confirm the practicality of CART usage. Results: Both the CART and Lasso models demonstrated comparable predictive performance. The CART model identified baseline SE as the primary determinant of myopia progression. Children with a baseline SE more negative than −3.125 D exhibited greater myopic progression, particularly those with prolonged treatment duration and higher cumulative atropine dosage. Conclusions: Baseline SE has been identified as the key factor affecting SE difference. The generated decision rules from CART demonstrate the use of explainable machine learning in precision myopia management. Full article

The ring finger protein 213 (RNF213) Arg4810Lys variant has been previously identified as a significant risk factor for Moyamoya disease (MMD), particularly in East Asian populations. This review explores the broader impact of the Arg4810Lys mutation on various cerebrovascular conditions, including Moyamoya syndrome (MMS), intracranial artery stenosis, quasi-Moyamoya syndromes, ischemic stroke, and intracranial atherosclerosis. Beyond the brain, it is also implicated in pulmonary arterial hypertension, coronary artery disease, and renal artery stenosis, emphasizing its systemic effects. Functional studies suggest that RNF213 Arg4810Lys alters angiogenic signaling, endothelial cell function, vascular remodeling, and immune response pathways, especially when influenced by environmental stressors, like hypoxia or inflammation. The gene dosage of Arg4810Lys significantly affects disease phenotypes, with homozygous carriers typically experiencing earlier onset with increased severe symptoms. The variant also exhibits incomplete penetrance and frequently co-occurs with additional genetic alterations, including trisomy, KIF1A, FLNA, and PCSK9 mutations, which complicates its pathogenicity. A comprehensive understanding of RNF213 Arg4810Lys’s systemic impact is essential to developing effective risk assessment strategies, personalized treatments, and targeted therapies for associated vascular diseases. Full article

Infertility rates are indeed increasing globally, which emphasizes a pressing need to identify novel biomarkers exhibiting superior potential for laboratory diagnosis and personalized clinical management. This study aimed to explore the biological role of Galectin-9 (Gal-9) in female fertility and evaluate its diagnostic potential in the In Vitro Fertilization (IVF) program. A prospective cohort study was performed on 83 follicular fluids (FF) and 19 serum-FF pairs from IVF patients, 16 serum samples from fertile women, and 12 tissue sections. Gal-9 expression was characterized by immunostaining and ELISA. The ROC analysis was employed to evaluate the overall diagnostic performance. Cell-specific ovarian Gal-9 expression and significant differences in soluble Gal-9 levels were identified in the serum and FF of fertile and infertile women. Elevated intrafollicular Gal-9 levels were linked to poor ovarian reserve, served as a predictive marker for ovarian hyperstimulation, and marked unfavorable IVF outcomes. Follicular Gal-9 levels positively correlated with peak estradiol and total daily FSH dosage. ROC analysis revealed an excellent diagnostic value of Gal-9 for predicting fertilization success and a moderate ability to predict IVF outcomes. Our findings suggest a potential role for Gal-9 in oogenesis and its promise as a diagnostic marker for predicting fertilization success in IVF. However, further studies are needed to confirm its clinical utility in assisted reproduction. Full article

Background and Objective: Colorectal cancer (CRC) most commonly metastasizes to the liver and lungs; however, synchronous metastases to pelvic structures such as the vagina and urethra are extremely rare, posing a significant diagnostic and therapeutic challenge. This report describes an unusual case of sigmoid colon adenocarcinoma with synchronous metastases to the vagina and urethra, highlighting its diagnostic evaluation and the value of a multidisciplinary approach. Methods: A 59-year-old woman with a history of deep vein thrombosis treated with apixaban presented with chronic constipation and pelvic bleeding. A gynecological evaluation revealed a vaginal lesion. A colonoscopy, biopsy, pelvic magnetic resonance imaging, and molecular profiling were performed. Treatment included chemotherapy (capecitabine and oxaliplatin), panitumumab, and pelvic radiotherapy. Results: The biopsy confirmed a moderately differentiated invasive adenocarcinoma in the sigmoid colon with synchronous metastases to the vagina and urethra. Molecular profiling identified a rat sarcoma virus oncogene and BRAF (B-Raf proto-oncogene), allowing for the use of targeted therapy. The patient achieved a complete response according to RECIST 1.1 criteria and significant symptomatic improvement, including pain reduction, although dosages were adjusted for thrombocytopenia. She is currently continuing palliative treatment with good tolerance and durable symptomatic improvement. Conclusions: This case underscores the need to consider unusual metastatic sites in patients with colorectal cancer presenting with gynecological symptoms. Early diagnosis, based on imaging and histology, alongside molecular characterization, is crucial for effective personalized therapy. Multidisciplinary coordination is key to optimizing clinical outcomes in these rare metastatic presentations. Full article

The management of acute lymphoblastic leukemia (ALL), the most common pediatric malignancy, critically relies on thiopurine therapy, such as 6-mercaptopurine (6-MP), during the maintenance phase. However, significant inter-individual response variety and high risk of myelosuppression often disrupt therapy efficacy. Pharmacogenetics offer crucial strategies to personalized therapy. While thiopurine methyltransferase (TPMT) was initially the primary focus, the discovery of nudix hydrolase 15 (NUDT15) appears as a more comprehensive determinant of thiopurine intolerance. This review aims to consolidate and critically evaluate the advancement achieved in unraveling the biological mechanism and clinical significance of NUDT15 pharmacogenetics in thiopurine therapy. Foundational studies showed the vital role of NUDT15 in the detoxification of active thiopurines, with common genetic variants (for instance, p. Arg139Cys) significantly disrupting its activity, leading to the accumulation of toxic metabolites. Observational studies consistently associated NUDT15 variants with severe myelosuppression, notably in Asian populations. Recent randomized controlled trials (RCTs) confirmed that NUDT15 genotype-guided dosing effectively reduces thiopurine-induced toxicity without interfering with the therapeutic outcome. Despite these advancements, challenges remain present, including the incomplete characterization of rare variants, limited data in the diverse Asian populations, and the need for standardized integration with metabolite monitoring. In conclusion, NUDT15 pharmacogenetics is essential for improving patient safety and thiopurine dosage optimization in the treatment of ALL. For thiopurine tailored medicine to be widely and fairly implemented, future research should focus on increasing genetic data across different populations, improving the dose adjustment algorithm, and harmonizing therapeutic guidelines. Full article

Clozapine, a second-generation antipsychotic known for its effectiveness in treating resistant schizophrenia, is often linked with serious hematological side effects, particularly neutropenia and agranulocytosis. This review investigates the underlying pathophysiological mechanisms of clozapine-induced neutropenia (CIN) and agranulocytosis (CIA), outlines associated risk factors, and evaluates current clinical management strategies. Clozapine’s pharmacological profile, marked by its antagonism of dopamine D4 and serotonin receptors, contributes to both its therapeutic advantages and hematological toxicity. Epidemiological data show a prevalence of CIN and CIA at approximately 3.8% and 0.9%, respectively, with onset typically occurring within the first six months of treatment. Key risk factors include older age, Asian and African American ethnicity, female sex, and certain genetic predispositions. The development of CIN and CIA may involve bone marrow suppression and autoimmune mechanisms, although the exact processes remain partially understood. Clinical presentation often includes nonspecific symptoms such as fever and signs of infection, necessitating regular hematological monitoring in accordance with established guidelines. Management strategies include dosage adjustments, cessation of clozapine, and the administration of granulocyte colony-stimulating factors (G-CSF). Advances in pharmacogenomics show promise for predicting susceptibility to CIN and CIA, potentially improving patient safety. This review emphasizes the importance of vigilant monitoring and personalized treatment approaches to reduce the risks associated with clozapine therapy. Full article

Background: The dual nature of cannabis, as both a promising therapeutic tool and a widely used recreational substance with potential risks, raises important societal controversies, including its unclear impacts regarding mental health. This narrative review provides a comprehensive overview of cannabis, addressing (i) its historical context; (ii) its chemical composition and pharmacokinetics; (iii) its pharmacological effects; (iv) its negative impacts on physiological and mental health; (v) its potential use as a drug for the treatment of neurological and psychiatric disorders; (vi) its relationship with the gut microbiome and how this interaction might influence mental functioning; (vii) the pathophysiology, prevalence, comorbidities, and treatment strategies of cannabis use disorder; and (viii) social perspectives on its legalization. Results: Cannabis presents a complex chemical profile and pharmacokinetics that show promise in treating numerous neurological, psychiatric, and psychological conditions. However, its use carries risks, which depend on factors such as compound concentration, dosage, consumption method, frequency of use, and individual vulnerability. Cannabis use disorder seems to be less severe than other substance use disorders, but it still constitutes a significant concern, as its manifestation is not uniform across all users. Conclusions: Cannabis demands a thorough understanding that goes beyond simplistic explanations and prejudices, standing as a plant of substantial clinical significance and highlighting the importance of personalized approaches to its use and increased awareness of how individuals respond to its effects. Full article

Background: Upper-limb impairment is a major cause of post-stroke disability, limiting participation in meaningful activities. Robotic rehabilitation may address this by delivering high-dosage, task-oriented training while reducing clinician workload. However, limited clinical translation of robotic interventions may be partly due to poor reporting in the literature. This systematic review evaluated the intervention-reporting quality (completeness and consistency) of randomized controlled trials (RCTs) comparing robotic and conventional upper-limb stroke rehabilitation. Methods: Four databases were searched for RCTs investigating robotic upper-limb interventions compared with dose-matched conventional interventions for people with stroke. Intervention reporting was assessed using the TIDieR-Rehab checklist. Trained reviewers independently extracted and evaluated data, resolving discrepancies through consensus. Completeness and consistency were analyzed descriptively. Results: Among 25 RCTs, the overall reporting completeness was low (43%). Robotic interventions were better described (50%) than conventional interventions (36%). While timing and total dose were commonly reported, critical details on provider expertise, active dose, progressive challenge, personalization, and harms were often omitted. Reporting consistency was moderate (68%), with key information dispersed across article sections. Conclusions: Inadequate reporting limits the transparency, replication, and implementation of robotic upper-limb interventions. Adopting structured reporting frameworks like TIDieR-Rehab is essential for advancing the field. Full article

Background and Objectives: Research on the impact of leucine on older sarcopenic patients is scarce, and investigations on this subject have led to contradictory findings in the literature. Our goal was to compile data from the available studies in the literature to explore the effect of leucine supplementation on parameters associated with sarcopenia in elderly individuals. Methods: The meta-analysis included older persons over 65 years of age who were recruited on the basis of the European Working Group on Sarcopenia in Older People sarcopenia criteria. Studies that were included were those in which at least one sarcopenia criterion was measured, including grip strength, appendicular skeletal muscle mass/height², gait speed, and the short physical performance battery index. Results: The meta-analysis included ten randomized controlled trials and one prospective study. The leucine group included 566 participants, whereas the placebo group included 567 patients. Patients receiving leucine and patients receiving a placebo had significantly different handgrip (p = 0.03), appendicular skeletal muscle mass/height² (p = 0.0.2), and gait speed (p = 0.008). Patients received a high dosage of leucine, and there was a significant difference in the appendicular skeletal muscle mass/height² (p = 0.02) and gait speed (p = 0.01) between the high dosage of the leucine group and the control group. When vitamin D was combined with leucine, the appendicular skeletal muscle mass/height² (p = 0.03) significantly differed between the leucine group receiving vitamin D and the control group. Conclusions: Low-quality evidence was found that older sarcopenic patients receiving leucine may show trends toward improved skeletal muscle strength, skeletal muscle quality, and physical performance. The capacity of leucine supplementation to have a beneficial therapeutic impact in older sarcopenic individuals is restricted when it is used alone without concurrent additional therapy. Full article

Respiratory diseases represent a persistent global health challenge, underscoring the need for intelligent, accurate, and personalized diagnostic and therapeutic systems. Existing methods frequently suffer from limitations in diagnostic precision, lack of individualized treatment, and constrained adaptability to complex clinical scenarios. To address these challenges, our study introduces a modular AI-powered framework that integrates an audio-based disease classification model with simulated molecular biomarker profiles to evaluate the feasibility of future multimodal diagnostic extensions, alongside a synthetic-data-driven prescription recommendation engine. The disease classification model analyzes respiratory sound recordings and accurately distinguishes among eight clinical classes: bronchiectasis, pneumonia, upper respiratory tract infection (URTI), lower respiratory tract infection (LRTI), asthma, chronic obstructive pulmonary disease (COPD), bronchiolitis, and healthy respiratory state. The proposed model achieved a classification accuracy of 99.99% on a holdout test set, including 94.2% accuracy on pediatric samples. In parallel, the prescription module provides individualized treatment recommendations comprising drug, dosage, and frequency trained on a carefully constructed synthetic dataset designed to emulate real-world prescribing logic.The model achieved over 99% accuracy in medication prediction tasks, outperforming baseline models such as those discussed in research. Minimal misclassification in the confusion matrix and strong clinician agreement on 200 prescriptions (Cohen’s $\kappa$ = 0.91 [0.87–0.94] for drug selection, 0.78 [0.74–0.81] for dosage, 0.96 [0.93–0.98] for frequency) further affirm the system’s reliability. Adjusted clinician disagreement rates were 2.7% (drug), 6.4% (dosage), and 1.5% (frequency). SHAP analysis identified age and smoking as key predictors, enhancing model explainability. Dosage accuracy was 91.3%, and most disagreements occurred in renal-impaired and pediatric cases. However, our study is presented strictly as a proof-of-concept. The use of synthetic data and the absence of access to real patient records constitute key limitations. A trialed clinical deployment was conducted under a controlled environment with a positive rate of satisfaction from experts and users, but the proposed system must undergo extensive validation with de-identified electronic medical records (EMRs) and regulatory scrutiny before it can be considered for practical application. Nonetheless, the findings offer a promising foundation for the future development of clinically viable AI-assisted respiratory care tools. Full article

Konjac glucomannan (KGM) is a natural polysaccharide polymer. It is degraded by gut microbiota-derived β-mannanase into small-molecule nutrients, which exert diverse physiological regulatory effects. As a prebiotic, KGM modulates gut microbiota composition. It selectively fosters the proliferation of beneficial commensals and suppresses potential pathogens, thereby alleviating microbiota-related disorders. Moreover, microbiota fermentation of KGM produces metabolites. Short-chain fatty acids (SCFAs) are particularly notable among these metabolites. They exert multifaceted beneficial effects, including metabolic regulation, intestinal barrier strengthening, and neuroprotective functions. These effects are mediated through inhibition of inflammatory pathways (e.g., NF-κB, MAPK), modulation of lipid metabolism genes (e.g., CD36), and regulation of neurotransmitters (e.g., GABA, 5-HT). This highlights KGM’s therapeutic potential for metabolic, inflammatory, and neurodegenerative diseases. Current clinical use is limited by dose-dependent adverse effects and interindividual response variability, which stem from different microbial communities. This necessitates personalized dosage strategies. Despite these limitations, KGM as a prebiotic polysaccharide exhibits multifaceted bioactivity. Current evidence suggests its potential to synergistically modulate metabolic pathways, gut microbiota composition, immune cell signaling, and neuroendocrine interactions. This highlights its promise for developing novel therapeutic interventions. Full article

Propionate is a short-chain fatty acid (SCFA) produced by gut microbiota through the fermentation of dietary fibers. Among the SCFAs, butyrate stands out and has been extensively studied for its beneficial effects; however, propionate has received less attention despite its relevant roles in immune modulation, metabolism, and mucosal homeostasis. This narrative review focuses on propionate’s effects on metabolism, inflammation, microbiota, and gastrointestinal diseases. Propionate acts as a signalling molecule through FFAR2/FFAR3 receptors and modulates immunity, energy metabolism, and gut–brain communication. It has beneficial effects in metabolic disorders, inflammatory bowel disease (IBD), and alcohol-related liver disease (ALD). However, excessive accumulation is linked to neurotoxicity, autism spectrum disorder (ASD), and mitochondrial dysfunction. Its effects are dose-dependent and tissue-specific, with both protective and harmful potentials depending on the context. Propionate use requires a personalized approach, considering the pathological context, host microbiota composition, and appropriate dosage to avoid adverse effects. Full article