Screening for Variants in Egyptian Patients with Pontocerebellar Malformations.

Introduction: Pontocerebellar hypoplasia (PCH) represents a group of rare disorders with prenatal onset and time-dependent loss of brain parenchyma, predominantly affecting the cerebellum and pons with variable involvement of supratentorial structures. Radiologically and pathologically, they are characterized by small cerebellum and pons. Our study aimed to screen for the gene variants in Egyptian patients with PCH for proper counseling and to describe the brain MRI and the clinical phenotype and compare, them to those described in the literature.

Design, synthesis, and cytotoxicity screening of novel pyrazolopyrimidines over renal cell carcinoma (UO-31 cells) as p38α inhibitors, and apoptotic cells inducing activities.

A series of novel molecules with pyrazolopyrimidine-4-amine core were designed and synthesized as potential cytotoxic agents over Renal Cell Carcinoma cells (UO-31). Results of cytotoxic activity against UO-31 cells showed that pyrazolopyrimidines 19 and 31 were found to be more cytotoxic than sorafenib (SOR). The cytotoxic activity of these compounds appeared to correlate with their ability to inhibit p38α MAPK which are 2.

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.

Soil Actinobacteria Exhibit Metabolic Capabilities for Degrading the Toxic and Persistent Herbicide Metribuzin.

Metribuzin, a widely used triazine herbicide, persists in agricultural soils and poses significant environmental pollution threats globally. The aim of this study was to investigate the biodegradation of metribuzin by actinobacterial strains in vitro at different environmental conditions. From an initial screen of 12 actinobacterial strains, four bacteria exhibited robust growth in the presence of the metribuzin as the sole carbon source at 50 mg/L concentration.

Antimicrobial Activity of -Mediated Gold Nanoparticles against : A Metabolomic and Docking Study.

The emergence of antibiotic-resistant necessitates the discovery of novel therapeutic agents. This study investigated the antimicrobial potential of green-synthesized gold nanoparticles (AuNPs) fabricated using extract. Characterization using Fourier transform infrared spectroscopy revealed the presence of functional groups such as ketones, aldehydes, and carboxylic acids in the capping agents, suggesting their role in AuNP stabilization.

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new variant & insights on teeth eruption.

Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Small versus large-bore thoracostomy for traumatic hemothorax: A systematic review and meta-analysis.

Background: Traumatic hemothorax (HTX) is common, and while it is recommended to drain it with a tube thoracostomy, there is no consensus on the optimal catheter size. We performed a systematic review to test the hypothesis that small bore tube thoracostomy (SBTT) (≤14 F) is as effective as large-bore tube thoracostomy (LBTT) (≥20F) for the treatment of HTX.

Methods: Pubmed, EMBASE, Scopus, and Cochrane review were searched from inception to November 2022 for randomized controlled trials or cohort studies that included adult trauma patients with HTX who received a tube thoracostomy.

Microbial Immobilized Enzyme Biocatalysts for Multipollutant Mitigation: Harnessing Nature's Toolkit for Environmental Sustainability.

The ever-increasing presence of micropollutants necessitates the development of environmentally friendly bioremediation strategies. Inspired by the remarkable versatility and potent catalytic activities of microbial enzymes, researchers are exploring their application as biocatalysts for innovative environmental cleanup solutions. Microbial enzymes offer remarkable substrate specificity, biodegradability, and the capacity to degrade a wide array of pollutants, positioning them as powerful tools for bioremediation.

Antimicrobial and Hemostatic Diatom Biosilica Composite Sponge.

The 3D nanopatterned silica shells of diatoms have gained attention as drug delivery vehicles because of their high porosity, extensive surface area, and compatibility with living organisms. Tooth extraction may result in various complications, including impaired blood clotting, desiccation of the root canal, and infection. Therapeutic sponges that possess multiple properties, such as the ability to stop bleeding and kill bacteria, provide numerous advantages for the healing of the area where a tooth has been removed.

Bioinspired Synthesis and Characterization of Dual-Function Zinc Oxide Nanoparticles from : Exploring Antimicrobial and Anticancer Activities.

Microbial synthesis offers a sustainable and eco-friendly approach for nanoparticle production. This study explores the biogenic synthesis of zinc oxide nanoparticles (ZnO-NPs) utilizing the actinomycete (Ess_amA6) isolated from . The biosynthesized ZnO-NPs were characterized using various techniques to confirm their formation and properties.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Objectives: Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth.

Study Design: The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered.

Biomimetic Antifungal Materials: Countering the Challenge of Multidrug-Resistant Fungi.

In light of rising public health threats like antifungal and antimicrobial resistance, alongside the slowdown in new antimicrobial development, biomimetics have shown promise as therapeutic agents. Multidrug-resistant fungi pose significant challenges as they quickly develop resistance, making traditional antifungals less effective. Developing new antifungals is also complicated by the need to target eukaryotic cells without harming the host.

Biosilica-coated carbonic anhydrase displayed on Escherichia coli: A novel design approach for efficient and stable biocatalyst for CO sequestration.

A robust and stable carbonic anhydrase (CA) system is indispensable for effectively sequestering carbon dioxide to mitigate climate change. While microbial surface display technology has been employed to construct an economically promising cell-displayed CO-capturing biocatalyst, the displayed CA enzymes were prone to inactivation due to their low stability in harsh conditions. Herein, drawing inspiration from biomineralized diatom frustules, we artificially introduced biosilica shell materials to the CA macromolecules displayed on Escherichia coli surfaces.

Biocontrol potential of endophytic fungi against phytopathogenic nematodes on potato (Solanum tuberosum L.).

Root-knot nematodes (RKNs) are a vital pest that causes significant yield losses and economic damage to potato plants. The use of chemical pesticides to control these nematodes has led to environmental concerns and the development of resistance in the nematode populations. Endophytic fungi offer an eco-friendly alternative to control these pests and produce secondary metabolites that have nematicidal activity against RKNs.

Nanoengineered Silica-Based Biomaterials for Regenerative Medicine.

The paradigm of regenerative medicine is undergoing a transformative shift with the emergence of nanoengineered silica-based biomaterials. Their unique confluence of biocompatibility, precisely tunable porosity, and the ability to modulate cellular behavior at the molecular level makes them highly desirable for diverse tissue repair and regeneration applications. Advancements in nanoengineered silica synthesis and functionalization techniques have yielded a new generation of versatile biomaterials with tailored functionalities for targeted drug delivery, biomimetic scaffolds, and integration with stem cell therapy.

Biomimetic Materials for Skin Tissue Regeneration and Electronic Skin.

Biomimetic materials have become a promising alternative in the field of tissue engineering and regenerative medicine to address critical challenges in wound healing and skin regeneration. Skin-mimetic materials have enormous potential to improve wound healing outcomes and enable innovative diagnostic and sensor applications. Human skin, with its complex structure and diverse functions, serves as an excellent model for designing biomaterials.

Biominerals and Bioinspired Materials in Biosensing: Recent Advancements and Applications.

Inspired by nature's remarkable ability to form intricate minerals, researchers have unlocked transformative strategies for creating next-generation biosensors with exceptional sensitivity, selectivity, and biocompatibility. By mimicking how organisms orchestrate mineral growth, biomimetic and bioinspired materials are significantly impacting biosensor design. Engineered bioinspired materials offer distinct advantages over their natural counterparts, boasting superior tunability, precise controllability, and the ability to integrate specific functionalities for enhanced sensing capabilities.

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Objective: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI.

A comprehensive study of colisepticaemia progression in layer chickens applying novel tools elucidates pathogenesis and transmission of Escherichia coli into eggs.

Colisepticaemia caused by avian pathogenic Escherichia coli (APEC) is a challenging disease due to its high economic importance in poultry, dubious pathogenesis and potential link with zoonosis and food safety. The existing in vitro studies can't define hallmark traits of APEC isolates, suggesting a paradigm shift towards host response to understand pathogenesis. This study investigated the comprehensive pathological and microbial progression of colisepticaemia, and transmission of E.