The Prevalence of Accommodative and Binocular Dysfunctions in Children with Reading Difficulties.

Uncorrected refractive error and unsatisfactory performance on several clinical accommodation and binocular vision tests are more common in children who struggle with reading. The aim of the current study is to explore the prevalence of accommodative and binocular dysfunctions in children with and without reading difficulties. Reading performance was assessed with the Acadience Reading (formerly DIBELS Next) test adjusted and validated for the Latvian language.

Transforming Children's Attitudes Toward Insects Through In-School Encounters.

Each year, the Department of Entomology at Virginia Tech hosts an entomology-themed outreach event known as Hokie BugFest. This on-campus, festival-sized experience aims to educate the public about insects and other arthropods through hands-on activities, games, displays, and live arthropods. In 2021, due to the COVID-19 pandemic, Hokie BugFest and similar large public events were cancelled.

De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.

Glycosylation Pathways Targeted by Deregulated miRNAs in Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) is a complex condition with a multifactorial aetiology including both genetic and epigenetic factors. MicroRNAs (miRNAs) play a role in ASD and may influence metabolic pathways. Glycosylation (the glycoconjugate synthesis pathway) is a necessary process for the optimal development of the central nervous system (CNS).

The Role of microRNA-22 in Metabolism.

microRNA-22 (miR-22) plays a pivotal role in the regulation of metabolic processes and has emerged as a therapeutic target in metabolic disorders, including obesity, type 2 diabetes, and metabolic-associated liver diseases. While miR-22 exhibits context-dependent effects, promoting or inhibiting metabolic pathways depending on tissue and condition, current research highlights its therapeutic potential, particularly through inhibition strategies using chemically modified antisense oligonucleotides. This review examines the dual regulatory functions of miR-22 across key metabolic pathways, offering perspectives on its integration into next-generation diagnostic and therapeutic approaches while acknowledging the complexities of its roles in metabolic homeostasis.

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes a range of developmental problems including cognitive and behavioral impairment and learning disabilities. FXS is caused by full mutations (FM) of the gene expansions to over 200 repeats, with hypermethylation of the cytosine-guanine-guanine (CGG) tandem repeated region in its promoter, resulting in transcriptional silencing and loss of gene function. Female carriers of FM are typically less impaired than males.

Expression of , , , , and Genes in Buccal Epithelial Cells from Patients with Molar Incisor Hypomineralization (MIH)-A Pilot Study.

Molar incisor hypomineralization (MIH) is a developmental defect that affects the enamel tissue of permanent teeth. Clinicians may observe a range of opacities in the affected teeth, varying from white to creamy, yellow, and brown. Of particular interest is an etiology of MIH that has not been rigorously elucidated.

Hyaluronan-Mediated Motility Receptor (HMMR) Overexpression Is Correlated with Poor Survival in Patients with B-ALL.

Acute lymphoblastic leukemia (ALL) is a malignant neoplasm with the highest incidence in the pediatric population. Although the 5-year overall survival is greater than 85%, in emerging countries such as Mexico, the mortality rate is high. In Mexico, B-ALL is the most common type of childhood cancer; different characteristics suggest the presence of the disease; however, the prognosis is dependent on clinical and laboratory features, and no adverse prognostic molecular marker for B-ALL has yet been identified.

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Analyzing the genetic architecture of hereditary forms of diabetes in different populations is a critical step toward optimizing diagnostic and preventive algorithms. This requires consideration of regional and population-specific characteristics, including the spectrum and frequency of pathogenic variants in targeted genes. As part of this study, we used a custom-designed NGS panel to screen for mutations in 28 genes associated with the pathogenesis of hereditary diabetes mellitus in 506 unrelated patients from Russia.

Stem Cell-Derived Extracellular Vesicle-Mediated Therapeutic Signaling in Spinal Cord Injury.

Mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) have emerged as a promising therapeutic strategy for spinal cord injury (SCI). These nanosized vesicles possess unique properties such as low immunogenicity and the ability to cross biological barriers, making them ideal carriers for delivering bioactive molecules to injured tissues. MSC-EVs have been demonstrated to exert multiple beneficial effects in SCI, including reducing inflammation, promoting neuroprotection, and enhancing axonal regeneration.

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.

Several mutations of the uppermost arginine, R219, in the voltage-sensing sliding helix S4 of cardiac sodium channel Nav1.5 are reported in the ClinVar databases, but the clinical significance of the respective variants is unknown (VUSs). AlphaFold 3 models predicted a significant downshift of S4 in the R219C VUS.

Genetic and Immunological Insights into Tick-Bite Hypersensitivity and Alpha-Gal Syndrome: A Case Study Approach.

Tick-bite hypersensitivity encompasses a range of clinical manifestations, from localized allergic reactions to systemic conditions like alpha-gal syndrome (AGS), an IgE-mediated allergy to galactose-α-1,3-galactose (α-Gal). This study investigated the clinical, molecular, immunological, and genetic features of two hypersensitivity cases. Two cases were analyzed: a 30-year-old woman with fixed drug reaction (FDR)-like hypersensitivity and a 10-year-old girl with AGS exhibiting borderline α-Gal-specific IgE.

Fibronectin Glomerulopathy Without Typical Renal Biopsy Features in a 4-Year-Old Girl with Incidentally Discovered Proteinuria and a G417V Gene Mutation.

Fibronectin glomerulopathy (FG) is caused by fibronectin 1 () gene mutations. A renal biopsy was performed on a 4-year-old girl with incidentally discovered proteinuria (150 mg/dL); her family history of renal disease was negative. Markedly enlarged glomeruli (mean glomerular diameter: 196 μm; age-matched controls: 140 μm), α-SMA-positive and Ki-67-positive mesangial cell proliferation (glomerular proliferation index 1.

Molecular Epidemiology and In-Depth Characterization of Clinical Isolates from Armenia.

The global dissemination of pathotypes with multidrug-resistant (MDR) and hypervirulent traits poses a threat to public health. The situation in Armenia is unclear, and we performed a comprehensive characterisation of 48 clinical isolates of , collected from 2018 to 2024. The majority of the isolates (64.

Sonic Hedgehog Determines Early Retinal Development and Adjusts Eyeball Architecture.

The eye primordium of vertebrates initially forms exactly at the side of the head. Later, the eyeball architecture is tuned to see ahead with better visual acuity, but its molecular basis is unknown. The position of both eyes in the face alters in patients with holoprosencephaly due to () mutations that disturb the development of the ventral midline of the neural tube.

Targeting Metabolic and Epigenetic Vulnerabilities in Glioblastoma with SN-38 and Rabusertib Combination Therapy.

Glioblastoma (GBM), the most prevalent primary malignant brain tumor, remains challenging to treat due to extensive inter- and intra-tumor heterogeneity. This variability demands combination treatments to improve therapeutic outcomes. A significant obstacle in treating GBM is the expression of O-methylguanine-DNA methyltransferase, a DNA repair enzyme that reduces the efficacy of the standard alkylating agent, temozolomide, in about 50% of patients.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.

Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.

Three-Dimensional Evaluation of the Effects of Different Treatment Methods on Pharyngeal Airways in Patients with Skeletal Class III Malocclusion.

: The aim of this prospective study was to assess the effects of rapid maxillary expansion (RME) and/or face mask (FM) treatments on the pharyngeal airway in patients with skeletal Class III malocclusion caused by maxillary deficiency. This study utilized cone beam computed tomography (CIBT) for a three-dimensional (3D) analysis of airway changes, comparing the results with those of a control group consisting of untreated skeletal Class III patients. : The study included 60 participants (34 boys, 26 girls) aged 9 to 14 years, all diagnosed with skeletal Class III malocclusion due to maxillary underdevelopment.

Asthma Risk Prevalence and Associated Factors in Stunted Children: A Study Using Asthma Predictive Index.

: The prevalence of stunted children under 5 years in Indonesia is relatively high. Stunting is a significant risk factor for wheezing disorders. The asthma predictive index (API) identifies children with a recurrent wheezing disorder at risk of developing asthma during the first 3 years.

Surgical Outcomes and Associated Morbidity of Active and Expectant Management of Second-Trimester Placenta Accreta Spectrum (PAS).

Management of second-trimester placenta accreta spectrum (PAS) is currently center-dependent with minimal evidence-based practices. This study aims to analyze outcomes of hysterectomy as second-trimester active management (AM) versus cesarean hysterectomy as expectant management (EM) in cases of PAS with intraoperative and postoperative outcomes. This study is a retrospective case-control study of patients with a pathology-confirmed diagnosis of PAS managed at a single center over 16 years (2005-2020).

Involvement of HLADQA1*05 in Patients with Inflammatory Bowel Disease Treated with Anti-TNF Drugs.

: Over the past decade, TNF inhibitors such as Infliximab and Adalimumab have become central to Inflammatory Bowel Diseases treatment, greatly enhancing patient outcomes. However, immunogenicity-where anti-drug antibodies diminish effectiveness-remains an issue, often requiring dose changes or combination therapies. Pharmacogenomics is increasingly applied in IBD to personalise treatment, especially since genetic factors like the HLA-DQA1*05 variant heighten the immunogenicity risk with IFX.

Alveolar Rhabdomyosarcoma of Nasopharynx and Paranasal Sinuses in Children Diagnosis and Treatment-Review of the Literature and Case Report.

Alveolar rhabdomyosarcoma (aRMS) is a rare pediatric malignant tumor with a poor prognosis, particularly when located in the rhinopharynx and sphenoidal floor, which complicates diagnosis and increases the risk of misclassification as benign growths. The specific genotype of aRMS is associated with a worse clinical outcome. In young children, especially those aged 4 to 12 years, rhinopharyngeal masses are often attributed to chronic adenoiditis; however, other benign (e.

Differences Between Amblyopic and Fellow Eyes in Optical Coherence Tomography: A Cohort from Jordanian Population.

: Amblyopia is a condition where children undergo unilateral or bilateral vision loss due to a variety of disorders that impact the visual pathway. The assessment of retinal nerve fiber layer (RNFL) thickness in amblyopia has made optical coherence tomography (OCT) a useful technique for studying the pathophysiology of this condition. This study was conducted to assess OCT results for various forms of amblyopia, including macular thickness and peripapillary RNFL thickness.