EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

The anticancer activity of fucoidan coated selenium nanoparticles and curcumin nanoparticles against colorectal cancer lines.

Cancers still globally endanger millions of people yearly; the incidences/mortalities of colorectal cancers are particularly increasing. The natural nanoparticles (NPs) and marine biopolymers were anticipated to provide effectual safe significances for managing cancers. The transformation of curcumin to nano-curcumin (NCur) was conducted with gum Arabic.

Prevalence and Influencing Factors of Tobacco Use Among Physicians in Madinah City, Saudi Arabia, in 2024.

Background Smoking is recognized as a major public health issue globally; it is widely distributed among people of various origins and races in the world despite hard efforts on cessation programs. Its health hazards extend to dangerous complications, which mostly end in death according to statistics around the world. Tobacco use is influenced by several factors, which may include social pressures from peers, family influences, and media portrayals of smoking.

Did Primary Healthcare Patients in Riyadh Experience Their First Migraine Episodes After a Stressful Event, and What Triggers and Relievers Do They Commonly Report?

Objective: This study aimed to investigate whether the first onset of migraine episodes among primary healthcare patients in Riyadh, Saudi Arabia, is preceded by a highly stressful event, as well as to identify common potential triggers and relievers reported by these patients.

Background: Migraine is a prevalent and debilitating neurological disorder. The pathophysiology of migraine involves complex interactions between genetic, neurological, and environmental factors, including the trigeminovascular system and neuropeptides such as calcitonin gene-related peptide (CGRP).

Safety and Efficacy of Ecopipam in Patients with Tourette Syndrome: A Systematic Review and Meta-analysis.

Background And Objectives: Ecopipam is a selective antagonist of the dopamine D1 receptor, and its efficacy and safety have recently been explored in several clinical trials involving patients with Tourette syndrome (TS). The objectives of this systematic review were to determine the pooled estimate for efficacy [in terms of reduction in tic Yale Global Tic Severity Scale (YGTSS) scores] and safety of oral ecopipam in subjects with TS.

Methods: All clinical trials that explored the efficacy and/or safety of ecopipam in patients with TS were included to determine the pooled estimate for change in YGTSS, Clinical Global Impression (CGI)-TS, and the severity of comorbid attention-deficit hyperactive disorder (ADHD), obsessive compulsion disorder (OCD), and depressive symptoms, as well as the nature and frequency of adverse effects.

Optimizing dual energy X-ray image enhancement using a novel hybrid fusion method.

Background: Airport security is still a main concern for assuring passenger safety and stopping illegal activity. Dual-energy X-ray Imaging (DEXI) is one of the most important technologies for detecting hidden items in passenger luggage. However, noise in DEXI images, arising from various sources such as electronic interference and fluctuations in X-ray intensity, can compromise the effectiveness of object identification.

Evaluation of ADHD knowledge and awareness among healthcare college interns in Riyadh, Saudi Arabia.

Background: Attention deficit hyperactivity disorder (ADHD), a neuropsychiatric disorder, is common in children and can persist into adulthood. With or without hyperactivity, it involves chronic impulsivity and inattention. Despite being a widespread illness, there is little research on ADHD knowledge and awareness among health college interns in Riyadh, KSA.

Awareness of colon cancer screening among the general population: Community-based study from the Qassim Region of Saudi Arabia.

Introduction: Colorectal cancer (CRC) has surged to prominence as the leading cancer affecting men and the second most common affecting women in Saudi Arabia. The need for preventative screening is underscored by the rising prevalence of precancerous polyps, early-stage colorectal cancer, and the fact that these conditions often manifest without symptoms.

Methods: This study utilized a cross-sectional descriptive design and employed data from a sample of 425 residents of Qassim region in Saudi Arabia.

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.

Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.

Methods: Data and imaging were obtained from the patient's medical records.

Parental satisfaction with the quality of services provided to persons with autism spectrum disorder and their families in Saudi Arabia.

The services provided to persons with autism spectrum disorder (ASD) and their families are considered the basic factors that help families meet their needs and those of their children. These services help persons with ASD attain an appropriate level of independence within the society. Therefore, this study aimed to assess the Parents' satisfaction with the quality of services related to family guidance and education, diagnostic and evaluation services, support and intervention services, and services that aim to improve equal opportunities and life quality among persons with ASD and their parents in Saudi Arabia.

Orthopedic research productivity of KSA: First bibliometric analysis.

Purpose: Medical research is a crucial indicator of a nation's reputation and development. However, there are concerns about the limited orthopedic research in Kingdom of Saudi Arabia (KSA). Therefore, this study conducted bibliometric analysis to investigate orthopedic research output from KSA.

Metastasis-directed stereotactic radiotherapy in patients with breast cancer: results of an international multicenter cohort study.

Metastasis-directed therapy (MDT) for oligometastatic breast cancer (≤ 5 metastases) has shown little effect in specific scenarios of randomized trials. Therefore, we aimed to assess outcomes after metastasis-directed stereotactic radiotherapy (SRT) in various clinical scenarios. We conducted an international retrospective cohort study in thirteen centers including breast cancer patients receiving SRT to any metastatic site.

ToRCH pathogens-induced histopathological changes in placental tissues and associated post obstetric complications.

Background: Maternal infections caused by the ToRCH complex, comprising Toxoplasma gondii (T.gondii), Rubella Virus (RV), Cytomegalovirus (CMV), and Herpes Simplex Virus (HSV), are significant contributors to Bad Obstetric History (BOH). These infections can vertically transmit through the placental barrier, leading to complications in fetal development.

An international and multidisciplinary EORTC survey on resectability of stage III non-small cell lung cancer.

Introduction: The EORTC-Lung Cancer Group initiated a Delphi consensus process to establish a consensual definition of resectable stage III non-small cell lung cancer (NSCLC) for the use in clinical trials, including a systematic review, survey, and review of clinical cases. Here, the survey results are presented, aimed to identify areas of controversy.

Methods: A survey was distributed among the members of six international organizations related to lung cancer.

Fracture resistance of monolithic gradient zirconia crowns with different finish line designs and cement spaces.

Objective: This study was aimed at assessing the effects of various finish line designs and cement gap thicknesses on the fracture resistance of gradient zirconia crowns.

Methods: Sixty crowns were fabricated on stainless-steel dies with yttria multi-layered (YML) zirconia and categorized into three primary groups according to finish line type (knife-edge, chamfer, and rounded shoulder). Each group was further classified into two subgroups (n = 10) according to cement space thickness (50 or 80 μm).

Clinical attachment loss may serve as a more precise, suitable, and pragmatic grading instrument for periodontitis: A clinical and radiographic validation study.

Objective: The present study was aimed at assessing the sensitivity and accuracy of using clinical attachment loss (CAL) as a substitute tool for grading periodontitis, instead of the interdental bone loss (BL) percentage derived from two-dimensional radiographs.

Methods: One hundred patients diagnosed with periodontitis were included in the study. Periodontitis was graded according to the American Academy of Periodontology (AAP) 2017 classification.

Alkhumra Hemorrhagic Fever Virus (AHFV): A Concise Overview.

Alkhumra fever is a viral disease caused by the Alkhumra hemorrhagic fever virus (AHFV). It belongs to family , genus . AHFV is primarily transmitted to humans through the bite of infected ticks, for example, .

Functionalized Graphene Quantum Dots as an Eco-Friendly Fluorescent Probe for Galantamine Analysis: Greenness Evaluation With Application to Pharmacokinetics Monitoring.

In this study, the use of functionalized graphene quantum dots (GQDs) as a fluorescent probe has been investigated for the quantitative determination of galantamine, a choline esterase inhibitor used for the treatment of Alzheimer's disease. The GQDs exhibit a significant quenching in their fluorescence intensity upon interaction with galantamine allowing for sensitive and selective detection of the drug. This quenching process follows a dynamic pattern with a linear relationship between fluorescence intensity and the concentration of galantamine.

An evaluation framework and comparative analysis of the widely used learning management systems.

Learning Management System (LMS) is a major tool used in most universities and institutions for online/distance education purposes. A variety of LM systems are being used in different universities and institutions, and these LM systems are also updating their versions and patches to stay in the competition. Hence, the selection of an appropriate LMS is an important task as it is going to influence the academic proceedings of an academic institution.

International Validation of a Novel PEACE Scale to Improve the Quality of Upper Gastrointestinal Mucosal Inspection During Endoscopy.

Introduction: The performance of a high quality esophagogastroduodenoscopy (EGD) is dependent on the mucosal cleanliness. Recently, the Polprep: Effective Assessment of Cleanliness in EGD (PEACE) scale was created to assess the degree of mucosal cleanliness during EGD. The aim of this study was to validate this scoring system in a cohort of international endoscopists.

Association of Anti-Smith, Anti-Ro, and Anti-ribonucleoprotein Combination With Accelerated Development of Lupus Nephritis in Systemic Lupus Erythematosus Patients in Saudi Arabia.

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder affecting multiple organs. Lupus nephritis (LN), one of its serious complications, is characterized by proteinuria and renal dysfunction.

Objective: The objective of this study was to evaluate the association between a specific antibody profile (anti-Smith [anti-Sm], anti-Ro, and anti-ribonucleoprotein [anti-RNP]) and the time to develop LN in SLE patients.

Quantification and time course of subjective psychotropic and somatic effects of tetrahydrocannabinol - a prospective, single-blind, placebo-controlled exploratory trial in healthy volunteers.

Background: Cannabis is increasingly used and debates about the legalisation of the recreational use of cannabis are ongoing. In this prospective, placebo-controlled study in healthy volunteers not regularly consuming cannabis, subjective psychotropic and somatic effects after a single dose of intravenous THC were assessed and quantified over 48 h.

Methods: Twenty-five healthy volunteers received a single IV bolus of THC and 6 received normal saline.

Career choice of Saudi medical students: opting for ophthalmology residency programs - perceptions and sociodemographic influencing factors - a cross-sectional study in Northern Saudi Arabia.

Background And Aim: The present survey aimed to explore northern Saudi medical students' perceptions and sociodemographic influencing factors in choosing ophthalmology as a career specialty to determine if they are in alignment with the health sector transformation program of the Vision 2030 initiative.

Methods: This study was conducted among 384 medical students from two universities in northern Saudi Arabia (KSA). We used a standard and validated questionnaire to collect the required data.