Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.

Congenital sideroblastic anemia (CSA) is a rare genetic disorder caused by defects on heme biosynthesis and mitochondrial energy production. This disease is characterized by the presence of ring sideroblasts in the bone marrow caused by excessive iron accumulation in mitochondria of erythroblasts and by anemia of varying severity. In addition to its clinical variability, CSA is also characterized by genetic heterogeneity which required next-generation sequencing technologies to identify responsible gene.

Does drug repurposing bridge the gaps in management of Parkinson's disease? Unravelling the facts and fallacies.

Repurposing the existing drugs for the management of both common and rare diseases is increasingly appealing due to challenges such as high attrition rates, the economy, and the slow pace of discovering new drugs. Drug repurposing involves the utilization of existing medications to treat diseases for which they were not originally intended. Despite encountering scientific and economic challenges, the pharmaceutical industry is intrigued by the potential to uncover new indications for medications.

Hypomineralised Second Primary Molars (HSPM): Prevalence, Clinical Characteristics and Association with Molar Incisor Hypomineralisation (MIH) in Children in Jordan.

Aim: The purpose of this study was to determine the prevalence of HSPM, its clinical presentation and any association to MIH in Jordanian children.

Materials: A cross-sectional study involving six- to-eight-year-old schoolchildren was carried out by two calibrated examiners. The MIH/HSPM index was used for scoring defects.

Prothrombotic State and Vascular Damage in Angiotensin II-Induced Hypertension: Influence of Waterpipe Smoke Exposure.

Hypertension is a risk factor for vascular injury and thrombotic complications, and smoking tobacco is a risk factor for the development and exacerbation of hypertension. The influence of waterpipe smoke (WPS) on coagulation and vascular injury in hypertension is not fully understood. Here, we evaluated the effects of WPS in mice made hypertensive (HT) by infusing angiotensin II (Ang II) for 42 days.

Enhancing pediatric congenital heart disease detection using customized 1D CNN algorithm and phonocardiogram signals.

Congenital heart disease (CHD), impacting around 1 % of infants worldwide, constitutes a significant healthcare challenge. Early detection is crucial, however constrained by the intricacies of conventional diagnostic techniques such as auscultation and echocardiography. This research presents a tailored one-dimensional convolutional neural network (1D-CNN) for the classification of phonocardiogram (PCG) signals into normal or abnormal categories, providing an automated and efficient solution for congenital heart disease (CHD) diagnosis.

Barriers to effective communication in UAE community pharmacies: general public perspectives on enhancing patient-pharmacist interaction and policy development.

Background: Community pharmacies serve as accessible points of care, offering essential services such as medication dispensing, health consultations, vaccinations, and chronic disease management, thereby playing a critical role in the healthcare system. This study aims to identify and evaluate the factors that obstruct general public-pharmacist interactions, providing insights to enhance pharmacy environments.

Methods: A total of 406 general publics were surveyed using a validated questionnaire.

Groundbreaking mRNA Lung Cancer Vaccine Trials: A New Dawn in Cancer Treatment.

The advent of mRNA vaccines has heralded a transformative era in oncology, exemplified by the BNT116 mRNA lung cancer vaccine. Leveraging the same ground-breaking technology as COVID-19 vaccines, BNT116 delivers tumor-specific genetic in-structions to the immune system, targeting non-small cell lung cancer (NSCLC), the most prevalent lung cancer subtype. This approach contrasts with conventional therapies that lack precision and often damage healthy tissues.

A Cross-Sectional Observational Study on the Prediction of Cardiovascular Events and Mortality from Cardiovascular Diseases in Patients from Different Socio-Demographic and Ethnic Groups.

Background: Currently, additional risk factors for cardiovascular diseases (CVD), including nationality, psychological characteristics, and social status, are under consideration. Therefore, there is a need for the exploration and assessment of the contribution and consideration of the aforementioned factors to determine patient-oriented management strategies.

Methods: Participants underwent a survey using the "social determinants" questionnaire, which was developed and initially utilized in the context of the extensive American MESA study.

Behavioral and histopathological insights into phenylthiazolyl-1,3,5-triazines: potential antidepressant candidates in a rat model of depression.

Objectives: To evaluate the antidepressant-like effects of Phenylthiazolyl-1,3,5-triazine derivatives through behavioral tests, molecular docking, and histopathological analysis in a rat brain model of depression.

Methods: Phenylthiazolyl-1,3,5-triazine derivatives were synthesized and administered at a dose of 30 mg/kg in albino rats. Behavioral effects were assessed using the Forced Swim Test and Tail Suspension Test.

Unlocking the Neuroprotective Potential of Silymarin: A Promising Ally in Safeguarding the Brain from Alzheimer's Disease and Other Neurological Disorders.

Medicinal plants and their phytochemicals have been extensively employed worldwide for centuries to address a diverse range of ailments, boasting a history that spans several decades. These plants are considered the source of numerous medicinal compounds. For instance, silymarin is a polyphenolic flavonoid extract obtained from the milk thistle plant or Silybum marianum which has been shown to have significant neuroprotective effects and great therapeutic benefits.

The enigmatic voyage of pneumococcal carriage: Unraveling the risk factors in pediatric populations -- A scoping review.

Background: Pneumococcal infections are a major cause of morbidity and mortality globally, especially among children in low- and middle-income countries (LMICs). Although considerable research has been done on the frequency of pneumococcal infections and their risk factors, there are still many unanswered questions. The objective of this study is to offer fresh perspectives through systematic literature review on the shifting prevalence of and associated risk factors for pneumococcal colonization.

Endocytic highways: Navigating macropinocytosis and other endocytic routes for precision drug delivery.

Drug molecules can reach intracellular targets by different mechanisms, such as passive diffusion, active transport, and endocytosis. Endocytosis is the process by which cells engulf extracellular material by forming a vesicle and transporting it into the cells. In addition to its biological functions, endocytosis plays a vital role in the internalization of the therapeutic molecules.

Global guideline for the diagnosis and management of candidiasis: an initiative of the ECMM in cooperation with ISHAM and ASM.

Candida species are the predominant cause of fungal infections in patients treated in hospital, contributing substantially to morbidity and mortality. Candidaemia and other forms of invasive candidiasis primarily affect patients who are immunocompromised or critically ill. In contrast, mucocutaneous forms of candidiasis, such as oral thrush and vulvovaginal candidiasis, can occur in otherwise healthy individuals.

Triazine based probes for nitroaniline: Comprehensive optical and DFT approach for dual-phase detection and fingerprint sensing.

Extended conjugation in fluorescent probes is crucial for efficient optical characteristics. Herein, two novel triazine based organic compounds ITA and DIT with extraordinary photophysical properties were synthesized through palladium catalyzed Suzuki and Sonogashira coupling reactions, respectively. Solvatochromism and solid-state based comprehensive study of photophysical properties of probes ITA and DIT was investigated for developing dual phase and extremely sensitive and selective fluorescent probes for detection of 4-nitroanilne (4-NA).

Biosimilars and immunogenicity: a matter of concern?

Introduction: Biosimilars have transformed treatment modalities across various medical fields such as oncology, rheumatology, and immunology. Despite their potential for reducing healthcare costs, concerns persist regarding their ability to induce an immune response, which could affect efficacy and safety. This review critically evaluates the current evidence on the immunogenicity of biosimilars and discusses the regulatory frameworks guiding their approval and monitoring.

Scanning Electron Microscopy analysis concerning the effect of 980 nm Diode Laser and Twin Kleen irrigant for the elimination of smear layer off the root canal wall.

Objective: The present research aims to examine the effectiveness of 980 nm Diode Laser and Twin Kleen irrigant individually in addition to the combo for removing the smear layer from tooth canals in single-rooted teeth.

Materials And Methods: 60 single-rooted mandibular premolar teeth were chosen and inspected clinically and by radiography. Protaper was employed to prepare teeth up to F4.

Altitudinal influence on survival mechanisms, nutritional composition, and antimicrobial activity of Moringa Peregrina in the summer climate of Fujairah, UAE.

Extreme environments significantly impact the metabolic profiles of plants, leading to variations in chemical composition and bioactivity. This study investigates the effects of altitude, plant part age, and light exposure on the chemical composition and antimicrobial properties of Moringa peregrina. Based on our results, mineral contents were plant location dependent; while dry matter, ash, total digestible nutrients (TDN), fibre, protein, and tannins, were greater in the samples from the mountain.

Accelerometery 24-hour movement behaviours and health markers in the European old population: iso-temporal substitution regression.

Background: The amount of physical activity, sleep, and sedentary behaviour affect several age-related diseases. However, no relevant study about their associations with cardiovascular and musculoskeletal diseases from European older adults is known.

Methods: We investigated the associations of the volumes of physical activity, sleep, and sedentary behaviour with low handgrip strength (HGS), heart attack, hip fracture, rheumatoid arthritis, stroke, and osteoarthritis among European older adults (age ≥ 50 years, n = 819) from ten countries using cross-sectional data from the Survey of Health, Ageing, and Retirement in Europe (SHARE) conducted between 2019 and 2021.

Relationship between parental perfectionism and child's disordered eating: mediating role of parental distress and validation of the arabic version of the eating disorders examination questionnaire-short-parent version (EDE-QS-P).

Background: Eating disorders are an emerging global health crisis, with significant implications for both physical and psychological well-being. Disordered eating behaviors in childhood can serve as precursors to more severe eating disorders if left untreated. Previous literature evidences a strong association between perfectionism, as well as parental control and eating disorders, highlighting perfectionism as a significant factor in the development and maintenance of ED symptoms.

Integrating advanced analytical methods to assess epigenetic marks affecting response to hypomethylating agents in higher risk myelodysplastic syndrome.

Background: Patients with higher-risk (HR) myelodysplastic syndrome (MDS), ineligible for allogeneic hematopoietic stem cell transplantation (alloHSCT), require prompt therapeutic interventions, such as treatment with hypomethylating agents (HMAs) to restore normal DNA methylation patterns, mainly of oncosuppressor genes, and consequently to delay disease progression and increase overall survival (OS). However, response assessment to HMA treatment relies on conventional methods with limited capacity to uncover a wide spectrum of underlying molecular events.

Methods: We implemented liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assess 5' methyl-2' deoxycytidine (5mdC), 5' hydroxy-methyl-2'-deoxycytidine (5hmdC) levels and global adenosine/thymidine ([dA]/[T]) ratio in bone marrow aspirates from twenty-one HR MDS patients, pre- and post-HMA treatment.

Resistance Exercise Training on Musculoskeletal, Metabolic and Psychological Health in Sedentary Office Workers - Systematic Review and Meta-analysis.

Purpose: To consolidate the emerging evidence on the effectiveness of resistance training (RT) in reducing the health risks among sedentary office workers.

Methods: Four electronic databases were searched for evidence from its inception till september 20, 2024. Studies were included if they examined any form of RT program targeting musculoskeletal, metabolic, or psychological health outcomes in office workers aged 18 years or older using PICOS criteria (Population - office workers, Intervention - RT program, Comparison - placebo or sham control and Outcomes - musculoskeletal, cardiometabolic and psychological health variables).

MemoCMT: multimodal emotion recognition using cross-modal transformer-based feature fusion.

Speech emotion recognition has seen a surge in transformer models, which excel at understanding the overall message by analyzing long-term patterns in speech. However, these models come at a computational cost. In contrast, convolutional neural networks are faster but struggle with capturing these long-range relationships.

Bridging gap in the treatment of Alzheimer's disease via postbiotics: Current practices and future prospects.

Aging is an extremely significant risk associated with neurodegeneration. The most prevalent neurodegenerative disorders (NDs), such as Alzheimer's disease (AD) are distinguished by the prevalence of proteinopathy, aberrant glial cell activation, oxidative stress, neuroinflammation, defective autophagy, cellular senescence, mitochondrial dysfunction, epigenetic changes, neurogenesis suppression, increased blood-brain barrier permeability, and intestinal dysbiosis that is excessive for the patient's age. Substantial body studies have documented a close relationship between gut microbiota and AD, and restoring a healthy gut microbiota may reduce or even ameliorate AD symptoms and progression.