OBM Geriatrics—An International Open Access Journal for 21st Century Geriatrics Medicine
Abstract
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OBM Geriatrics—An International Open Access Journal for 21st Century Geriatrics MedicineAbstract
Geriatrics, and much of clinical medicine, is on the verge of a profound transformational shift. Until now, there has been a sharp conceptual divide between diseases which can be readily and effectively treated, and diseases which we have thought to be beyond clinical intervention. In the first disease category, are many of the most common infections that respond to antibiotics and immunizations. We have made dramatic changes in the demographics and the mortality of many such treatable diseases. At the other extrem [...] 1763 17212 |
Analysis of rs25487 (Arg399Gln) in XRCC1 in Sudanese Diagnosed with Nasopharyngeal Carcinoma and Its Possible Risk FactorsAbstract
Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy influenced by genetic susceptibility and environmental exposures. The XRCC1 Arg399Gln (rs25487) polymorphism has been associated with NPC risk in several populations; however, evidence from African populations remains scarce. This study investigated the association between the XRCC1 Arg399Gln polymorphism and NPC susceptibility in a Sudanese population. A case-control study was conducted including 71 patients with histopathologically confirmed NPC and 71 [...] 24 166 |
Dental Care in Children with Dystrophic Epidermolysis Bullosa: Case Report and Evidence-Based ManagementAbstract
Epidermolysis bullosa (EB) is a group of rare, genetically determined disorders characterized by blister formation, skin fragility, and mucocutaneous blisters and erosions following minimal trauma. Oral manifestations and dental involvement of EB vary in frequency and severity depending on the subtype. Dental management of children with EB is complex due to the high risk of iatrogenic soft-tissue injury and requires strict adherence to evidence-based preventive and minimally invasive protocols. Published clinical p [...] 210 595 |
Novel SLITRK6 Nonsense Mutation in an Iranian Family with Autosomal Recessive Syndromic Hearing Lossby
Abstract
SLITRK6 is essential for inner-ear neuronal survival and retinal development, and pathogenic variants in this gene cause syndromic sensorineural hearing loss (HL) with high myopia. This study aimed to identify the genetic basis of HL and myopia in a consanguineous Iranian family with two affected children and to characterize the molecular consequences of the detected variant. One sibling with bilateral congenital HL and myopia was evaluated using whole-exome sequencing (WES). Common variants (MAF >1%) were excluded [...] 283 659 |
Mutagenic Variations in Four Successive Generations of Cotton Varieties from Gamma Ray Treated Seedsby
Abstract
Seeds of cotton varieties Ganja-160, Ganja-182, and Ganja-183 were γ-irradiated with the isotope Co-60 at doses of 5, 10, 50, 100, 200, 300, and 400 Gy (at a dose rate of 0.342 rad/sec). Irradiated seeds, along with non-irradiated seeds (controls), were sown at the experimental base of the Center for Agricultural Sciences under open-field conditions in four replicates. The aim was to obtain mutant cotton lines with high quality and improved technological parameters, as well as resistance to various diseases and ext [...] 238 788 |
A Machine Learning-Based Diagnostic Model for Prostate Cancer Using Circulating MicroRNA Expression Profilesby
Abstract
Prostate cancer (PCa) is one of the most common malignancies among men worldwide, and early detection is critical for improving clinical outcomes. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis due to their stability in blood and association with tumor-related molecular alterations. In this study, machine learning (ML) methods were applied to large-scale circulating miRNA expression data to develop a diagnostic model for PCa detection. Serum miRNA expression pr [...] 275 798 |
Skin Cancer and Its Classification in the Aged: A Study of Melanoma and Squamous Cell Carcinoma Using OCT and AIAbstract
Skin cancer is a major disease that affects older subjects in the US. There are 56 million Americans 65 years and older in the US and the median age for melanoma diagnosis in the United States is 66 years. Each year 6 M patients are treated for skin cancer including basal cell carcinoma, squamous cell carcinoma, and melanoma. Both melanoma and squamous cell carcinoma can metastasize with melanoma being more likely to metastasize compared to squamous cell carcinoma and lead to death. The need to screen older subject [...] 362 977 |
Clinical Manifestation of Osteogenesis Imperfecta in Indonesian Patients: A Multi-Centre Studyby
Abstract
Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestat [...] 364 1235 |
Prenatal Diagnosis of Severe Factor VII Deficiency in the Setting of Maternal Breast CancerAbstract
Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder (RBD), presenting with various clinical manifestations. Given the heightened risk of life-threatening bleeding and fatal hemorrhagic complications, prompt detection of the disorder is critical, especially in cases with low FVII levels and a history of familial severe clinical presentations. In such cases, prenatal diagnosis (PND) emerges as a life-saving option. In this study, we reported two PNDs in a family with a positive family hi [...] 396 1096 |
Genetic Variants in Panamanian Patients with Hereditary CardiomyopathiesAbstract
Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carrier families to prov [...] 509 1200 |
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