International Genetics and Genomics of Diseases

A Qualitative Study on the Barriers and Enablers to Effective Hypertension Management Background: Hypertension remains a significant public health challenge in Ghana. Understanding the experiences of hypertensive patients can inform strategies to improve their management. This study explored the perceived enablers and barriers to hypertension management among patients in the Ashanti region, Ghana, using the Chronic Care Model as a framework. Methods: In-depth interviews were conducted with 20 hypertensive patients receiving care at Komfo Anokye Teaching Hospital. Inductive thematic analysis was employed to identify key themes and subthemes. Results: Several barriers to hypertension management emerged, including economic constraints, environmental and lifestyle factors, knowledge and awareness deficits, medication-related issues, and policy and provider-level barriers. Conversely, enablers such as patient empowerment, education, healthcare access, and policy and provider support and re...

Peripheral blood RNA modifications as a novel diagnostic signature for polycystic ovary syndrome Polycystic ovary syndrome (PCOS) is the most prevalent ovulatory and endocrine disorder affecting reproductive-aged women, yet the absence of a specific, rapid molecular diagnostic marker results in diagnostic delays and inaccuracies. Given the critical role of RNA modifications in disease pathology, this study utilized a high-throughput RNA modification profiling platform to investigate 15 types of peripheral blood RNA modification patterns in individuals with ovulatory disorders, including PCOS and primary ovarian insufficiency (POI), and control subjects. Our results revealed that distinct modification profiles correspond to specific disease states, with significant shifts in RNA modification inter-correlations observed across conditions. Additionally, specific RNA modifications were associated with clinical features, such as serum levels of testosterone and the follicle number per ovar...

Genomic alterations in Bacteroides fragilis favor adaptation in colorectal cancer microenvironment Background The occurrence and development of colorectal cancer (CRC) is an incredibly long process that involves continuous changes in the tumor microenvironment. These constant changes may ultimately result in genetic alterations and changes in the metabolic processes of some symbiotic bacteria as a way to adapt to the changing environment. Patients with CRC exhibit an altered abundance of Bacteroides fragilis (B. fragilis) as indicated by several studies. To better understand the genomic characteristics and virulence spectrum of B. fragilis strains in tumor tissues, B. fragilis strains were isolated from tumor and paracancerous tissues of CRC patients. Methods The isolates were identified using 16 S rRNA sequencing, morphological analysis, physiological and biochemical characterization and PCR, and they were then subjected to whole genome sequencing (WGS) analysis. Results A strain of B...

The Effect of Medication Adherence and Spirituality in Quality of Life of Patients with Rheumatic Diseases Background:   Spirituality is significantly associated with the quality of life of patients suffering from rheumatic diseases, helping them to cope with pain and improve emotional well-being. There is a gap in the literature regarding the relationship between spirituality, quality of life and treatment adherence in patients with rheumatic diseases, especially rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), as relevant studies, especially in the Greek population, are limited. Aims:   The present study aimed to evaluate the effect of medication adherence and spirituality on the quality of life of patients with rheumatic diseases. Methods:   This was a cross-sectional study conducted in adult patients with rheumatoid arthritis and systemic lupus erythematosus from the region of Crete. Data were collected via a self-administrated questionnaire consisti...

Alzheimer’s blood test can spot people with early symptoms, study suggests A new blood test for Alzheimer’s disease can accurately detect people with early symptoms, research suggests. Experts from the Mayo Clinic in the US have provided further evidence that blood tests can work to accurately diagnose dementia by examining two proteins in blood plasma. The proteins – amyloid beta 42/40 and p-tau217 – are associated with amyloid plaque buildup, which is a hallmark of Alzheimer’s disease. Researchers found the blood test was highly accurate, with 95% sensitivity, which means it was 95% accurate in picking up people with memory problems, with very few cases missed. It was also 82% for specificity, which means it was also highly accurate in ruling out people without dementia. The study was carried out on more than 500 people in an outpatient memory clinic, meaning it is real-world data. The blood test has been approved by the Food and Drug Administration regulator in the US....

Heredity factors is more than the sum of our genes “Whereas genetics is the study of genes, epigenetics refers to a “layer” of additional information, which defines how these genes will or won’t be used by a cell. In other words, epigenetics refers to the study of changes in gene activity that do not change the DNA sequence and which can be conveyed during cell division.” Since the 1900s, studies have shown that epigenetic information can be passed on from one generation to the next, “but the molecular mechanisms had not been established“. Nicola Iovino’s team at the Max Planck Institute for Immunobiology and Epigenetics in Freiburg, refers to the biological consequences of epigenetics for the first time in the Science journal. ” These studies not only show how epigenetic changes are transmitted from mother to offspring, but also the essential role played by these changes in embryo development. “ Gene expression changes throughout life, depending on the environment (pollution, for...