SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

SLC25A42 encodes a mitochondrial carrier that is responsible for the import of CoA into mitochondria. Biallelic pathogenic variants in SLC25A42 have been associated with a recently described mitochondrial disorder characterized by encephalomyopathy with variable severity. To date, 24 affected individuals from 16 different families have been reported.

Associations Among Perceived Social Support, Physical Activity, and Health-Related Quality of Life in Patients With Ischemic Heart Disease Reporting Moderate to Severe Hopelessness.

Background: Associations among perceived social support (PSS), physical activity (PA), and health-related quality of life (HRQoL) in individuals with ischemic heart disease (IHD) are well established. However, little is known about these associationsin patients with IHD experiencing hopelessness.

Objective: The objective of this study is to explore the associations among PSS, PA, and HRQoL in patients with IHD reporting moderate to severe hopelessness.

Optimizing infection control: Evaluating nurses' knowledge and practices for preventing infections in mechanically ventilated patients.

Introduction: Infection control is crucial in healthcare, particularly in intensive care units (ICUs), where patients are at high risk of infection due to mechanical ventilation. Ventilator-associated pneumonia (VAP) is one of the most common hospital-acquired infections in ICUs, leading to increased morbidity, prolonged hospital stays, and elevated healthcare costs. Nurses are essential in implementing infection control measures to prevent these infections.

The relationship between practical skills confidence and readiness for transition to practice among nursing internship students: Exploring the mediating role of preceptorship.

Background: The transition from nursing student to practitioner can be a difficult and stressful period marked by a lack of confidence and practical skills. To bridge this theory-practice gap and ensure successful integration into the workforce, preceptorship programs are essential. By providing experienced mentors and role models, preceptors can equip new nurses with the necessary skills, boost their confidence, and ultimately contribute to a smoother transition and a more prepared nursing workforce.

Parental genetic knowledge and attitudes toward childhood with genetic disorders.

Genetics' integration with society sparks a multifaceted exploration in medicine, ethics, and psychology. This survey probes parental perspectives on childhood genetic disorders, aiming to gauge their understanding, attitudes, and implications. It seeks to inform healthcare, counseling, and policy endeavors by uncovering gaps in knowledge and attitudes.

Synthesis of silver nanoparticles embedded into melamine polyaminal networks as antibacterial and anticancer active agents.

Silver nanoparticles were successfully incorporated into a melamine-based polymer, resulting in the synthesis of (Ag NPs@Bipy-PAN) through a reverse double solvent approach. The synthesised Ag NPs@Bipy-PAN polymer underwent extensive characterisation through Powder X-ray Diffraction (PXRD), Scanning Electron Microscopy (SEM), Transmission Electron Microscopy and Energy Dispersive X-ray (EDX) and Thermal Gravimetric Analysis. PXRD analysis confirmed the successful encapsulation of Ag nanoparticles and provided insights into the amorphous nature of the polymer following encapsulation.

Computational investigation of structural, electronic, and spectroscopic properties of Ni and Zn metalloporphyrins with varying anchoring groups.

Porphyrins are prime candidates for a host of molecular electronics applications. Understanding the electronic structure and the role of anchoring groups on porphyrins is a prerequisite for researchers to comprehend their role in molecular devices at the molecular junction interface. Here, we use the density functional theory approach to investigate the influence of anchoring groups on Ni and Zn diphenylporphyrin molecules.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.

One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD.

Efficient Reduction in Methylene Blue Using Palladium Nanoparticles Supported by Melamine-Based Polymer.

In this work, palladium nanoparticles, supported by polyaminals (Pd@PAN-NA), were synthesized via a reverse double solvent approach and used as a nano catalyst. The thermogravimetric and the elemental analysis revealed that the catalyst had good dispersity and improved thermal stability. The catalytic activity of the prepared Pd@PAN-NA catalyst was studied for a methylene blue chemical reaction in the presence of NaBH as a reducing agent.

Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View.

Aim: The aim of this case report is to describe the dentofacial manifestations of achondroplasia and highlight concerns associated with dental management of pediatric patients with achondroplasia.

Background: Achondroplasia is the most common form of skeletal dysplasia (dwarfism) with clinical manifestations including disproportionate limb shortening and stunted stature. The craniofacial characteristics of achondroplasia are relative macrocephaly, depression of the nasal bridge, and maxillary hypoplasia.

Replacing protein via enteral nutrition in a stepwise approach in critically ill patients: the REPLENISH randomized clinical trial protocol.

Background: Protein intake is recommended in critically ill patients to mitigate the negative effects of critical illness-induced catabolism and muscle wasting. However, the optimal dose of enteral protein remains unknown. We hypothesize that supplemental enteral protein (1.

Phytochemical Screening and Antimicrobial Activity of Methanolic Extract of (L.) (azkhar) Collected from Afif City, Saudi Arabia.

In Saudi Arabia, (L.) has been traditionally used to treat a variety of diseases. This study aimed to investigate the crude methanolic extract of (L.

Short Tandem Repeat (STR) Profiling of Earwax DNA Obtained from Healthy Volunteers.

The present study aimed to establish human earwax as a potential source of DNA evidence that could be effectively used in human identification. Sixty earwax samples were obtained from 15 healthy male and female Saudi volunteers living in Riyadh, Saudi Arabia. Four consecutive earwax swab samples were obtained from each volunteer and stored for 1, 15, 30 and 60 days.

Investigation of the impacts of simple electrolytes and hydrotrope on the interaction of ceftriaxone sodium with cetylpyridinium chloride at numerous study temperatures.

Herein, interactions between cetylpyridinium chloride (CPC) and ceftriaxone sodium (CTS) were investigated applying conductivity technique. Impacts of the nature of additives (e.g.

Enhancing the Photovoltaic Properties via Incorporation of Selenophene Units in Organic Chromophores with A-π-A-π-A Configuration: A DFT-Based Exploration.

Currently, polymer organic solar cells (POSCs) are widely utilized due to their significant application, such as low-cost power conversion efficiencies (PCEs). Therefore, we designed a series of photovoltaic materials ( and ) by the incorporation of selenophene units ( = 1-7) as π-spacers by considering the importance of POSCs. Density functional theory (DFT) calculations were accomplished at MPW1PW91/6-311G (d, p) functional to explore the impact of additional selenophene units on the photovoltaic behavior of the above-mentioned compounds.

Novel and Facile Colorimetric Detection of Reducing Sugars in Foods via In Situ Formed Gelatin-Capped Silver Nanoparticles.

The evolution of green technology for the simple and ecological formation of silver nanoparticles (AgNPs) inspired the present work for simple and efficient detection of reducing sugars (RS) in foods. The proposed method relies on gelatin as the capping and stabilizing agent and the analyte (RS) as the reducing agent. This work may attract significant attention, especially in the industry, for testing the sugar content using gelatin-capped silver nanoparticles as it not only detects the sugar in food, but also determines the content (%), which could be an alternative technique to the conventionally used DNS colorimetric method.

Polymer Membranes of Zeolitic Imidazole Framework-8 with Sodium Alginate Synthesized from ZIF-8 and Their Application in Light Gas Separation.

The potential of nanocomposite membranes (NCMs) prepared by the sodium alginate polymer and embedded with synthesized zeolitic imidazole framework-8 (ZIF-8) as fillers having microporous structure in the application of separation of gaseous mixture generated by the process of methane reforming was assessed. ZIF-8 crystals were created through hydrothermal synthesis, with sizes varying from 50 to 70 nm. NCMs were prepared with a 15% filler loading, i.

Synthesis and Characterization of Aminoamidine-Based Polyacrylonitrile Fibers for Lipase Immobilization with Effective Reusability and Storage Stability.

Lipases are extensively utilized industrial biocatalysts that play an important role in various industrial and biotechnological applications. Herein, polyacrylonitrile (PAN) was treated with hexamethylene diamine (HMDA) and activated by glutaraldehyde, then utilized as a carrier support for lipase. In this regard, the morphological structure of modified PAN before and after the immobilization process was evaluated using FTIR and SEM analyses.

Identifying bioactive phytoconstituents as C-terminal Src kinase inhibitors: a virtual screening and molecular simulation approach.

Tyrosine-protein kinase CSK otherwise known as C-terminal Src kinase (CSK), is involved in multiple pathways and processes, including regulating cell growth, differentiation, migration, and immune responses. Altered expression of CSK has been associated with various complexities, including cancer, CD45 deficiency, Osteopetrosis and lupus erythematosus. Important auxiliary roles of CSK in cancer progression make it a crucial target in developing novel anticancer therapy.

Acrylic fabric and nanomaterials to enhance α-amylase-based biocatalytic immobilized systems for industrial food applications.

An innovative approach for immobilizing α-amylase was used in this investigation. The acrylic fabric was first treated with hexamethylene diamine (HMDA) and then coated with copper ions that were later reduced to copper nanoparticles (CuNPs). The corresponding materials obtained, Cu(II)@HMDA-TA and CuNPs@HMDA-TA, were employed as carriers for α-amylase, respectively.

Self-Rated Emergency Core Nursing Competencies Among Emergency Nurses in Qassim, Saudi Arabia.

Introduction Emergency situations require advanced and specialized knowledge and skills to handle urgent situations. However, there is a scarcity of literature on emergency nurses' competencies. We assessed the competencies of nurses working in the emergency departments of hospitals in the Qassim region.

Photo-Fenton assisted AgCl and P-doped g-CN Z-scheme photocatalyst coupled with FeO/HO system for 2, 4-dimethylphenol degradation.

In this study graphitic carbon nitride (g-CN or GCN) and phosphorus doped graphitic carbon nitride (p-g-CN or PCN) were prepared using facile thermal polycondensation method. Phosphorus doping was employed to preserve the non-metallic nature of GCN. The AgCl/PCN/FeO heterojunction was synthesized using a simple in-situ route.