Purpose: To analyze the retinal imaging findings and natural history of Best vitelliform macular dystrophy (BVMD).
Design: Single-center retrospective, consecutive, observational study.
Participants: Patients with a clinical diagnosis of BVMD, from pedigrees with a likely disease-causing monoallelic variant in BEST1.
G-protein coupled receptors (GPCRs) are the largest family of membrane proteins engaged in transducing signals from the extracellular environment into the cell. GPCR-biased signaling occurs when two different ligands, sharing the same binding site, induce distinct signaling pathways. This selective signaling offers significant potential for the design of safer and more effective drugs.
View Article and Find Full Text PDFBackground: Colorectal cancer (CRC) is one of the most common malignancies worldwide, and despite advances in treatment, there remains a critical need for novel therapeutic approaches. Recently, anti-microbial peptides (AMPs) have gained attention for their potential use in cancer therapy due to their selective cytotoxicity towards cancer cells.
Objective: This study aims to evaluate the anti-cancer potential of two computationally engineered anti-microbial peptides (EAMPs) in SW620, SW480, and HCT116 colon cancer cells and the normal colon epithelial cell line CCD 841, focusing on their effects on cell proliferation, apoptosis, and DNA damage.
Lamins, which are crucial type V intermediate filament proteins found in the nuclear lamina, are essential for maintaining the stability and function of the nucleus in higher vertebrates. They are classified into A- and B-types, and their distinct expression patterns contribute to cellular survival, development, and functionality. Lamins emerged during the transition from open to closed mitosis, with their complexity increasing alongside organism evolution.
View Article and Find Full Text PDFPurpose: Inherited retinal disorders (IRD) are a complex group of conditions. By developing the first patient-reported experience measurement (PREM) questionnaire tailored for individuals with IRD participating in natural history studies, we gathered information on individuals' views of their experience while they are involved in research.
Methods: Adults with IRD who (i) were enrolled in a natural history study taking place at Moorfields Eye Hospital (London, UK), (ii) had attended at least two study visits, (iii) the most recent one being less than two weeks before the questionnaire, and (iv) who were not involved in interventional research, were considered for participation.
Sarcoidosis is a multifaceted systemic disease of uncertain aetiology, pathologically characterised by non-caseating granulomas. Typical symptoms include coughing, dyspnoea, chest pain and lesions affecting the eyes or skin. Cutaneous sarcoidosis frequently accompanies the involvement of other organs, but isolated cutaneous presentations are also observed.
View Article and Find Full Text PDFThe common use of antimicrobials in food-animal production can lead to drug residues in edible tissues for consumers. However, immunomodulators enhance immune responses and vaccine effectiveness. A new perspective explores bacterial extracellular bioactive molecules (EBMs) in food-animal production to modulate host immune responses, potentially transforming pathogen management and antimicrobial use.
View Article and Find Full Text PDFLayer double hydroxide (LDH) nanoparticles (NPs) have been applied to enhance plant growth and productivity. However, their effects on carbon and nitrogen metabolism of aromatic plants, are not well understood. Therefore, we investigated the impact of foliar application of Zn-Al LDH and Mg-Al LDH NPs (10 ppm) on the growth and metabolism of geranium plants.
View Article and Find Full Text PDFPurpose: To analyze the genetics, clinical characteristics, and natural history of PDE6A-associated retinitis pigmentosa.
Design: Retrospective, longitudinal, observational cohort study.
Participants: Patients with molecularly confirmed PDE6A-associated retinal dystrophy in a single tertiary referral center.
Cervical cancer is still the leading cause of cancer mortality worldwide even after introduction of vaccine against Human papillomavirus (HPV), due to low vaccine coverage, especially in the developing world. Cervical cancer is primarily treated by Chemo/Radiotherapy, depending on the disease stage, with Carboplatin/Cisplatin-based drug regime. These drugs being non-specific, target rapidly dividing cells, including normal cells, so safer options are needed for lower off-target toxicity.
View Article and Find Full Text PDFGenetic relationships were examined for a total of 90 individuals of 90 species or species var. from 13 genera of Malawian cichlids based on the sequences of an amplified 991-bp fragment of the mtDNA control region (mtDNA-CR). In the network analysis, no exclusive clades were made by all the members of any genera in this study.
View Article and Find Full Text PDFEsophageal cancer (EC) is significantly influenced by the tumor microenvironment (TME) and altered signaling pathways. Downregulating these pathways in EC is essential for suppressing tumor development, preventing metastasis, and enhancing therapeutic outcomes. This approach can increase tumor sensitivity to treatments, enhance patient outcomes, and inhibit cancer cell proliferation and spread.
View Article and Find Full Text PDFPurpose: To present a case of molecularly confirmed oculocutaneous albinism (OCA) and retinitis pigmentosa (RP).
Observations: A 46-year-old male with a lifelong established diagnosis of OCA and baseline best corrected visual acuity (BCVA) of 20/200, presented for worsening visual acuity over the last few years. BCVA was light perception and hand motion at face for the right and left eye, respectively.
Background: A central role for apolipoprotein E (APOE) has been suggested in modulating processes of neurodegeneration.
Objective: To study the association between serum APOE levels, APOE gene polymorphisms, and Parkinson's disease (PD).
Material And Methods: Fifty-five patients with PD and 30 healthy subjects were enrolled.
For persons with dementia, the relationships between caregiver burden, physical frailty, race, behavioral and psychological symptoms (BPSD), and other associated variables are poorly understood. Only one prior study examined the relationships among these variables but did not include race, which is an important social determinant of health outcomes in the United States. To examine these interactions, we conducted a cross-sectional exploratory study based on a model by Sugimoto and colleagues.
View Article and Find Full Text PDFPurpose: To analyze the clinical characteristics, natural history, and genetics of PDE6B-associated retinal dystrophy.
Design: Retrospective, observational cohort study.
Methods: Review of medical records and retinal imaging, including fundus autofluorescence (FAF) imaging and spectral-domain optical coherence tomography (SD-OCT) of patients with molecularly confirmed PDE6B-associated retinal dystrophy in a single tertiary referral center.
Purpose: To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults.
Design: Single-center retrospective, consecutive, observational study.
Participants: Patients with a clinical diagnosis of BVMD from pedigrees with a likely disease-causing monoallelic sequence variant in the BEST1 gene.
Cancer heterogeneity and drug resistance remain pivotal obstacles in effective cancer treatment and management. One major contributor to these challenges is epigenetic modifications - gene regulation that does not involve changes to the DNA sequence itself but significantly impacts gene expression. As we elucidate these phenomena, we underscore the pivotal role of epigenetic modifications in regulating gene expression, contributing to cellular diversity, and driving adaptive changes that can instigate therapeutic resistance.
View Article and Find Full Text PDFHuman colostrum (HC) is essential for oral health as it is rich in probiotics that could affect the growth of the cariogenic and its biofilm formation; hindering dental caries in advance. In this study, HC was collected from 36 healthy mothers 1-3 days postpartum. The effect of HC on oral health was carried out by assessing the impact of HC and its derived probiotics' cell-free supernatants (CFS) on the growth of (using modified well diffusion) and its biofilm formation (using microtiter plate assay).
View Article and Find Full Text PDFBackground: Iron plays a key role in the regulation of body iron homeostasis and is used as a clinical marker for iron deficiency (ID) and hemochromatosis. The idea that iron dysregulation may contribute to various metabolic diseases, such as obesity, insulin resistance, MetS, and T2DM, is a hot topic of discussion.
Aim: The aim of this study is to investigate the relationship insulin resistance, iron status markers, and body weight in a sample of Egyptian population.
Marine fish are high in essential omega-3 fatty acids, which are important for human health. This study evaluated the effects of four extraction methods (soxhlet extraction, SE; wet rendering, WR; acid silage, AS; microwave-assisted extraction, MAE) on the oil yield, physicochemical properties, fatty acid profile, and nutritional quality index (NQI) of pangus fish oil. The oil yield ranged from 13.
View Article and Find Full Text PDFBackground: The prevalence of behavioral problems among preschool children is remarkably increasing in the clinical setting.
Aim: The current study aimed to investigate the association between media exposure and behavioral problems among preschool children.
Methods: This survey study recruited 560 children from 10 nurseries selected randomly, located in El-Mansoura, Egypt.
Traditional cancer treatments use nonspecific drugs and monoclonal antibodies to target tumor cells. Chimeric antigen receptor (CAR)-T cell therapy, however, leverages the immune system's T-cells to recognize and attack tumor cells. T-cells are isolated from patients and modified to target tumor-associated antigens.
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