Search Results (125)

Background/Objectives: Monogenic primary immunodeficiencies represent a group of disorders with varying levels of severity, many of which remain poorly understood. Activated phosphoinositide-3 kinase delta syndrome (APDS) is a rare genetic condition resulting from dominant point mutations in the phosphoinositide-3 kinase delta (PI3Kδ) gene, which leads to hyperactivation of the PI3Kδ enzyme, primarily expressed in T and B lymphocytes. Children with this mutation often have recurrent sinopulmonary infections and immunodeficiency. Additional complications may include increased susceptibility to herpes virus infections, lymphoid hyperplasia, and autoimmune conditions. In this case, report, we describe the clinical course of a young boy diagnosed with APDS who developed unclassified inflammatory bowel disease (U-IBD) and explore a personalized treatment approach. Methods: We detail the clinical course of a 12-year-old boy with APDS who presented with fever, diarrhea, anemia, and significant weight loss. Diagnostic evaluations, including endoscopy and histological analysis, led to a diagnosis of U-IBD. Genetic testing confirmed a heterozygous PIK3CD mutation (c.G3061A, p.E1021K). Results: Although APDS is characterized by a broad spectrum of immune dysregulation, the occurrence of IBD in this context is rare. We managed the patient’s IBD with exclusively enteral nutrition to induce remission, followed by a maintenance regimen combining the Crohn’s Disease Exclusion Diet (CDED) and mesalamine, achieving sustained long-term clinical remission. Conclusions: This case underscores the importance of personalized treatment approaches in managing the complex manifestations of APDS. Full article

Carbonaceous materials have gained significant attention in recent years for their various applications in the field of medicine and biotechnology. This comprehensive review explores the synthesis and characterization of carbon-based materials and their potentials in various medical applications. The paper delves into the methods of fabrication of carbon-based nanoparticles, such as carbon nanotubes, biochar, and graphene, while highlighting their unique properties. Characterization techniques, such as microscopy, spectroscopy, and surface analysis, are discussed to provide insights into the chemical and structural properties of these materials. Furthermore, the review examined their wide-ranging medical applications, encompassing tissue engineering, drug delivery, biosensing, and imaging, showcasing the versatility and promising contributions of carbonaceous materials in the healthcare industry. The review outlines the current challenges and prospects in the field, emphasizing the growing significance of carbon-based materials as valuable tools in advancing medical science and technology, as well as public health. Full article

Smokeless tobacco (ST) is an alternative to smoking, which involves not the burning of tobacco. Although ST has been used for thousands of years, its health effects are not well characterized, and it is the subject of misconceptions throughout society. Therefore, it is crucial to identify the risks associated with ST use. We conducted a comprehensive search of the scientific literature to identify studies reporting associations between tobacco chewing and the risk of oral cancer and premalignant lesions. Our review discusses the molecular mechanisms associated with ST components, along with the role of ST use in speech impairment and cancer progression. We also examine the effectiveness of tobacco cessation strategies and review the existing perceptions held by ST consumers. Our findings indicate significant health risks associated with ST use, including increased cancer risk and speech impairments. As societal perceptions and misconceptions about ST are important factors that influence its use, there is a need for comprehensive public awareness campaigns to correct these misconceptions and to promote healthier lifestyle choices. We call for further research to improve cessation interventions and to increase public awareness of relevant research discoveries. By providing a thorough discussion of the health impacts of ST, we aim to inform policy decisions and public health strategies to reduce the prevalence of ST use. Full article

Background/Objectives: Alzheimer’s disease (AD) is a leading cause of death worldwide, affecting millions of older Americans and resulting in a substantial economic burden. The Alzheimer’s Disease Neuroimaging Initiative (ADNI) aims to investigate and develop treatments for AD. Methods: This study included 60 participants, divided equally into AD and control cohorts, and utilized magnetic resonance imaging (MRI) scans to detect gray matter volumetric alterations, a key biomarker of AD. The participants’ cortical volume and surface area were quantified using an automated pipeline in MIMICS (Materialise Interactive Medical Imaging Control System). Results: A multivariate regression analysis was conducted to explore the relationship between cortical measurements and potential factors influencing AD susceptibility. The study found that both cortical volume and surface area were statistically significant predictors of AD (p = 0.0004 and p = 0.011, respectively). Age was also a significant factor, with the 65–70 age group showing the strongest association (p < 0.001). The model achieved an accuracy of 0.68 in predicting AD. Conclusions: While voxel-based morphometry (VBM) using MIMICS showed promise, further development of the automated pipeline could enhance accuracy and correlation indices. These findings contribute to our understanding of brain atrophy in AD pathophysiology and highlight the potential of MRI morphometry as a tool for AD biomarker development. Full article

Background: Muscle biopsy, the gold standard for assessing muscle aerobic capacity, is an invasive procedure. Noninvasive alternatives, such as 31-phosphorus magnetic resonance spectroscopy (³¹P-MRS) and near-infrared spectroscopy (NIRS), provide valuable insights, with NIRS providing superior time resolution and ease of use compared with ³¹P-MRS. Objectives: This study aimed to evaluate muscle metabolism using a 6 s muscle contraction phase with electrical muscle stimulation (EMS) and to assess the impact of EMS on exercise performance under hyperbaric conditions with elevated oxygen pressure. Methods: This study included nine male participants (21 ± 2 years) who underwent 5 min of EMS on the forearm flexor muscle group, with muscle oxygen dynamics assessed using NIRS. For statistical analysis, the mean values between groups were assessed using paired t-tests, and associations were evaluated using Pearson’s correlation coefficient. Results: Spontaneous blood flow interruption during EMS-induced muscle activity indicated the potential for assessing muscle metabolism without disrupting external blood flow. A significant negative correlation was observed between oxygen consumption and changes in oxygenated hemoglobin levels during muscle activity under hyperbaric conditions. Conclusions: This study demonstrates that skeletal muscle metabolism can be measured using a brief 6 s quantitative EMS. Furthermore, hyperbaric exercise appears to enhance aerobic capacity by increasing the rate and availability of oxygen consumption during exercise. Full article

Background: Vitamin D deficiency is thought to increase the likelihood of insulin resistance (IR) and diabetes onset. The objective of this study was to examine the association between the triglyceride glucose (TyG) index and vitamin D levels in individuals with prediabetes and type 2 diabetes mellitus (T2DM) in the tribal community of India. Methods: This study included 270 participants, consisting of 90 individuals with prediabetes, 90 individuals with T2DM, and 90 control patients. Anthropometric and biochemical characteristics were evaluated in all participants. 25-hydroxyvitamin D [25(OH)D] levels were measured using a chemiluminescent immunoassay. The TyG index was computed as Ln [fasting triglycerides (mg/dL) × fasting glucose (mg/dL)]/2. Spearman correlation analysis and linear regression analysis were performed to assess the relationship between the TyG index and 25(OH)D levels in people diagnosed with prediabetes and T2DM. The optimum cut-off value of the TyG index for detecting vitamin D deficiency was determined by receiver operating characteristic (ROC) curve analysis. Results: We observed a significant reduction in vitamin D levels in individuals with prediabetes and T2DM compared to those in the control group. However, the TyG index was significantly greater in individuals with prediabetes and T2DM than in controls. Statistical analysis revealed a significant negative correlation between the TyG index and 25(OH)D in both prediabetes and T2DM. Conclusions: The TyG index demonstrated a negative association with vitamin D levels and was identified as an independent predictor of vitamin D deficiency in individuals with prediabetes and T2DM. Full article

Aim: This study aims to estimate equivalent doses (EqDs) and life attributable risks (LARs) for pediatric patients who underwent chest–abdominal–pelvic (CAP) CT examinations in Madinah, Saudi Arabia. Methodology: This retrospective study collected data from 120 pediatric patients who underwent CAP CT examinations. The data were categorized by the age and gender of the pediatric patients. Then, the EqDs were computed using the NCICT (National Cancer Institute dosimetry system for computed tomography) program, and LARs were estimated from the equivalent dose (EqD) results using age- and gender-specific cancer risk models found in the Committee on the Biological Effects of Ionizing Radiation (BEIR) VII Phase 2 (2006). Results: The EqD range was 0.9 to 7.55 mSv for the prostate and colon (males and females), respectively. LARs for female breast and lung cancers were considered to have the highest values among the age groups. Nevertheless, LARs of the colon, liver, and leukemia cancers were higher for males than females. The LAR range of cancer incidence was 0.6 to 63.1 per 100,000 cases for prostate (aged 10–≤15 years) and breast (females aged 1≤–<5 years), respectively. The LAR range of cancer mortality was 0.1 to 41.9 per 100,000 cases for prostate (aged 10–≤15 years) and lung (females aged 1≤–<5 years). Conclusions: LARs of all cancer incidence and mortality from CAP CT examination were higher for pediatric females than males (with an average of 54%). This highlights the importance of considering pediatric patient gender and implementing optimization and protective measures in CAP CT examinations. LARs of breast and lung (for females) and colon (for males) cancers were found to have the highest values among the age groups. However, LARs of cancer incidence and mortality for colon, liver, and leukemia for males were higher than those for females. Full article

Background: The hub-and-spoke model (HSM) offers a framework for efficient healthcare service delivery. This scoping review seeks to explore the implementation and effectiveness of the HSM in antimicrobial stewardship (AMS) programmes. Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) reporting guideline was followed. A systematic search was conducted in four electronic databases (PubMed, Medline, Cochrane Library, and Google Scholar) from inception until January 2024. Studies where the HSM was used for delivering any AMS activity, intervention, or action, were included. No study-specific filters were applied and all populations, study designs, and health settings were included. Data screening and selection were achieved using Rayyan. Three authors independently screened studies, with conflicts resolved by a fourth author. Data were narratively synthesised. Standard appraisal tools were impractical; however, critical evaluation of data collection and outcome reporting was ensured. Results: Out of 1438 articles, three were included in the scoping review. The primary interventions utilising the HSM in AMS involved reducing antibiotic misuse, training healthcare professionals, case-based learning, establishing AMS programmes, developing antibiograms, and formulating policies or guidelines pertinent to AMS. The studies demonstrated significant clinical improvements in AMS. Clinical outcomes from the studies include a significant reduction in antimicrobial usage and improved antibiotic management, with a notable decrease in days on antimicrobial therapy and increased antibiotic de-escalation. Key facilitators for AMS programme success were tailored education, collaborative learning, strong leadership, strategic practices, and data-driven decisions. Key barriers were leadership challenges, change resistance, knowledge gaps, inadequate data systems, resource limitations, and technological constraints. Conclusions: The review identified a literature gap in HSM use in AMS programmes. Further studies are needed to assess HSM’s effectiveness, feasibility, and cost-effectiveness in AMS contexts. Full article

Background. The COVID-19 pandemic introduced unprecedented social distancing measures, resulting in significant deprivation of physical contact. Objective. This opinion article explores the implications of this tactile deprivation on psychological well-being, emphasizing its impact on emotional and cognitive development. Physical contact, particularly social touch mediated by C-tactile fibers, is essential for emotional stability and social bonding. Methods. Drawing on evidence from studies on orphaned children and primates, this opinion article argues for the critical importance of reintroducing physical contact to support mental health. Results. The pandemic’s reduction in physical touch has been associated with increased anxiety, depression, and stress, with notable declines in mood and heightened loneliness. Conclusions. While alternative methods such as virtual reality offer temporary solutions, the article stresses the need for safe, physical interactions as restrictions ease. Future discourse should focus on the long-term effects of touch deprivation and explore effective strategies for mitigating its impacts in similar scenarios. Full article

Background/Objectives: This study explores an optimization-based strategy for muscle force estimation by employing simplified cost functions integrated with physiologically relevant muscle models. Methods: Considering elbow flexion as a case study, we employ an inverse-dynamics approach to estimate muscle forces for the biceps brachii, brachialis, and brachioradialis, utilizing different combinations of cost functions and muscle constitutive models. Muscle force generation is modeled by accounting for active and passive contractile behavior to varying degrees using Hill-type models. In total, three separate cost functions (minimization of total muscle force, mechanical work, and muscle stress) are evaluated with each muscle force model to represent potential neuromuscular control strategies without relying on electromyography (EMG) data, thereby characterizing the interplay between muscle models and cost functions. Results: Among the evaluated models, the Hill-type muscle model that incorporates both active and passive properties, combined with the stress minimization cost function, provided the most accurate predictions of muscle activation and force production for all three arm flexor muscles. Our results, validated against existing biomechanical data, demonstrate that even simplified cost functions, when paired with detailed muscle models, can achieve high accuracy in predicting muscle forces. Conclusions: This approach offers a versatile, EMG-free alternative for estimating muscle recruitment and force production, providing a more accessible and adaptable tool for muscle force analysis. It has profound implications for enhancing rehabilitation protocols and athletic training, not only broadening the applicability of muscle force estimation in clinical and sports settings but also paving the way for future innovations in biomechanical research. Full article

Antiretroviral treatment (ART) has revolutionized the management of the human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS), enabling long-term viral load (VL) suppression in patients. Despite the proven effectiveness of ART, a significant proportion of patients with HIV receiving ART fail to achieve viral load suppression (VLS). This study aimed to identify factors associated with low VLS in the Tanganyika province. An unmatched case–control study was conducted from January 2022 to June 2023, including 22 care facilities with viral load data. Data were collected from patient records. For each reviewed record, the patient was invited for an interview upon providing informed consent. Data were analyzed using SPSS version 27. In a multivariable binary logistic regression model, variables with a p-value < 0.05 and a 95% confidence interval for the adjusted odds ratio were considered significantly associated with unsuppressed VL. A total of 462 individuals, including 156 cases and 306 controls, were included in the study. The mean age (standard deviation) of participants was 42.12 (±11.6) years. The following covariates were significantly associated with unsuppressed VL: poor HIV status disclosure to a confidant [adjusted OR = 2.10, 95% CI (1.33–3.31), p = 0.001], poor ART adherence [adjusted OR = 2.01, 95% CI (1.25–3.23), p = 0.004], ART interruption [adjusted OR = 3.43, 95% CI (2.00–5.88), p < 0.001], no participation in support groups [adjusted OR = 2.16, 95% CI (1.25–3.71), p = 0.005], baseline WHO clinical stage 3 and 4 [adjusted OR = 2.24, 95% CI (1.32–3.79), p = 0.003], opportunistic infections (OIs) [adjusted OR = 2.30, 95% CI (1.27–4.16), p = 0.006], and non-communicable chronic diseases (NCDs) [adjusted OR = 2.30, 95% CI (1.10–4.79), p = 0.026]. Given the clear association between several factors and unsuppressed VL, prevention should involve the implementation of innovative strategies targeting at-risk patient groups. Strengthening the monitoring of these factors among active patients at each appointment is recommended to achieve this goal. Full article

Overuse or misuse of broad-spectrum antibiotics increases the risk of the emergence of antibiotic-resistant bacteria, which increases the possibility of antimicrobial-resistant (AMR) bacterial infections, and subsequently raises healthcare costs. The excessive use of broad-spectrum antibiotics has also been linked to increased death rates, whilst the benefits that they offer against antibiotic-resistant bacterial pathogens are minimal. Patients infected with antibiotic-resistant bacterial pathogens frequently receive inadequate antimicrobial therapies due to a lack of effective options than those with non-resistant infections, resulting in poor health outcomes and longer recovery times, especially among patients who are critically ill. Broad-spectrum antibiotics also disturb the gut microbiome, which is increasingly recognized as a regulator of immune health. This study offers insights into the use of targeted antimicrobial therapies for bacterial infections, focusing on strategies that mitigate the risk of antibiotic resistance and unwanted side effects associated with the use of broad-spectrum antibiotics. We focus on identifying the genotype and phenotype of bacterial pathogens and then using either nanoparticle-based, vaccine-based, bacteriophage-based, monoclonal antibody-based, and CRISPR-based targeted therapies to directly kill those pathogens and reduce collateral damage. Furthermore, the mechanisms of action of these targeted therapies and their advantages and disadvantages are discussed. Full article

Although advances in contemporary medical care have broadened access to healthcare and extended the human life span, deaths resulting from antimicrobial-resistant pathogens continue to increase. This minireview summarizes the evidence that AI and machine learning, coupled with precision medicine and alternative therapies, such as repurposing non-antibiotic drugs and the use of bacteriophages, has promise to halt this advance. Full article

Neurocysticercosis (NCC), a parasitic infection of the central nervous system caused by the larval stage of Taenia solium, presents a diagnostic conundrum due to its rare and often nonspecific clinical manifestations. This paper aims to unravel the diagnostic mystery surrounding NCC, shedding light on its epidemiology, pathophysiology, clinical presentation, and the challenges encountered in its diagnosis. Despite being considered a rare disease, NCC is the leading cause of acquired epilepsy worldwide, underscoring its clinical significance. The complexity of NCC diagnosis lies in its diverse clinical presentations, which can range from headaches, dizziness, and seizures to more severe neurological cognitive deficits. This diversity often leads to misdiagnosis. Furthermore, the limitations of current diagnostic methods, including serological tests and neuroimaging, contribute to the diagnostic dilemma. This paper emphasises the need for improved diagnostic criteria and novel diagnostic tools to enable early and accurate detection of NCC. By enhancing our understanding of NCC, we can pave the way for better management strategies, ultimately improving patient outcomes in this under-recognised disease. Full article

Background: Our aim is to investigate cardiovascular risk factors, chronic graft-versus-host disease (CGvHD), and vitamin D metabolism in very long-term survivors of adult allogeneic stem cell transplantation (alloSCT). Methods: This study is a prospective unicentric, non-interventional trial. The detailed study protocol is available via the WHO Clinical Trial Registry. Results: We were able to include 33 patients with a mean age of 60.5 years (SD 11.1). Acute myeloid leukemia (AML) was the most frequent underlying disease (n = 12; 36.4%). The median survival time was 9.0 years (IQR 8.5–13.0). Relevant cardiovascular risk factors in the study population are the body mass index, cholesterol, LDL cholesterol, and lipoprotein(a). Cardiovascular risk factors have no significant impact on HRQoL. CGvHD of the skin as a limited disease was present in six patients (18.2%), and it has no impact on HRQoL. CGvHD was significantly associated with eosinophilia in peripheral blood (p = 0.003). Three patients (9.1%) had a shortage of calcitriol, and one patient (3.0%) took calcium substitution. The shortage is significantly associated with increased infection rates (p = 0.038). Conclusions: Cardiovascular risk factors and CGvHD need to be closely monitored. Eosinophilia might be a good and convenient monitoring parameter for CGvHD. Full article