Diseases, Volume 7, Issue 3 (September 2019) – 7 articles

Background: Chronic diseases have an impact on and can change the lives of the persons affected by them. This study examines how a disease can influence patients’ daily lives, the strategies they adopt to cope, and their experiences of support. The study focuses on four chronic diseases: asthma-allergy, cancer, diabetes mellitus, and inflammatory rheumatic arthritis. Methods: The study has a qualitative design and includes 41 transcribed in-depth interviews and a content analysis. Results: The participants’ new life situation was changed for a very long time or forever, and this was not a voluntary choice. The new life situation comprised the following themes: life-changing—the disease could be a turning point in a negative or positive way, strategies—designed to create ways of coping with daily tasks to find a good quality of life, and support—that could be obtained from the participants’ private network or the healthcare professionals. Conclusions: The patients had to make changes in their daily life, and these could bring about different feelings and restrict activity. Healthcare professionals need more knowledge of the process of coping with such life-changing matters and what could strengthen patients and give a sense of empowerment in their lives. Full article

Congenital heart disease (CHD) is the most common birth defect worldwide and the number one killer of live-born infants in the United States. Heart development occurs early in embryogenesis and involves complex interactions between multiple cell populations, limiting the understanding and consequent treatment of CHD. Furthermore, genome sequencing has largely failed to predict or yield therapeutics for CHD. In addition to the underlying genome, epigenetics and mechanobiology both drive heart development. A growing body of evidence implicates the aberrant regulation of these two extra-genomic systems in the pathogenesis of CHD. In this review, we describe the stages of human heart development and the heart defects known to manifest at each stage. Next, we discuss the distinct and overlapping roles of epigenetics and mechanobiology in normal development and in the pathogenesis of CHD. Finally, we highlight recent advances in the identification of novel epigenetic biomarkers and environmental risk factors that may be useful for improved diagnosis and further elucidation of CHD etiology. Full article

Infection with Echinococcus spp. causes fibrosis in various vital organs, including the liver and lungs. Hepatic fibrosis is a pathological feature of Echinococcus infection that destroys normal liver tissue, leading to jaundice, cholecystitis, portal hypertension, etc. Severe Echinococcus multilocularis infections lead to liver failure and hepatic encephalopathy. The formation of peripheral fiberboards around the metacestode is a major reason as to why antiparasitic drugs fail to be effectively transported to the lesion site. Studies on the mechanism of hepatic fibrosis caused by Echinococcus are important for treatment in patients. Recent studies have focused on miRNA and TGF-β. More recent findings have focused on the generation of collagen fibers around the metacestode. In this review paper we focus on the mechanism by which the Echinococcus parasite induces fibrosis in liver and some other organs in intermediate hosts—animals as well as human beings. Full article

Background: This study sought to determine the prevalence of carotid artery calcifications (CACs) and pulp stones detected on panoramic radiographs (PRs) and ascertain their correlation. Methods: A total of 2013 digital PRs were retrospectively retrieved and thoroughly examined to determine the prevalence of CACs and pulp stones, their correlation with patient age and gender, and the relationship between the presence of pulps stones and radiographically detectable CACs. Results: The prevalence of CACs on PRs was 2.0%; the prevalence of pulp stones was 4.6%. There was no statistical relationship between pulp stones and CACs (p = 0.714). Older patients exhibited a significantly higher prevalence of CACs than younger patients (p < 0.001); pulp stones were statistically more prevalent in younger patients than older patients (p = 0.001). There were no significant differences between male and females in terms of the prevalence of either CACs or pulp stones (p = 0.087 and p = 0.278, respectively). Conclusions: Dentists should be trained to detect CACs on PRs belonging to patients older than 40 to exclude the presence of CACs. Moreover, pulp stones do not function as a diagnostic marker for CACs. Full article

Bipolar disorder and borderline personality disorder are among the most frequently diagnosed psychiatric conditions. However, the nosological aspects and diagnostic boundaries of both conditions have historically been the object of considerable controversy. The present paper critically analyzes this debate, in light of available evidence. Clinical and neurobiological differences between bipolar disorder and borderline personality disorder are discussed, as well as the factors possibly involved in the overlap between both conditions and the potential implications of this. Full article

Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded glycosaminoglycans cellularly. MPS results in varied systemic symptoms and in some forms of the disease, neurodegeneration. Lack of treatment options for MPS with neurological involvement necessitates new avenues of therapeutic investigation. Cell and gene therapies provide putative alternatives and when coupled with genome editing technologies may provide long term or curative treatment. Clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing technology and, more recently, advances in genome editing research, have allowed for the addition of base editors to the repertoire of CRISPR-based editing tools. The latest versions of base editors are highly efficient on-targeting deoxyribonucleic acid (DNA) editors. Here, we describe a number of putative guide ribonucleic acid (RNA) designs for precision correction of known causative mutations for 10 of the MPSs. In this review, we discuss advances in base editing technologies and current techniques for delivery of cell and gene therapies to the site of global degeneration in patients with severe neurological forms of MPS, the central nervous system, including ultrasound-mediated blood-brain barrier disruption. Full article