Maturity-onset diabetes of the young (MODY) - in search of ideal diagnostic criteria and precise treatment.

Maturity-onset diabetes of the young (MODY) is a spectrum of clinically heterogenous forms of monogenic diabetes mellitus characterized by autosomal dominant inheritance, onset at a young age, and absence of pancreatic islets autoimmunity. This rare form of hyperglycemia, with clinical features overlapping with type 1 and type 2 diabetes mellitus, has 14 subtypes with differences in prevalence and complications occurrence which tailor therapeutic approach. MODY phenotypes differ based on the gene involved, gene penetrance and expressivity. While MODY 2 rarely leads to diabetic complications and is easily managed with lifestyle interventions alone, more severe subtypes, such as MODY 1, 3, and 6, require an individualized treatment approach to maintain a patient's quality of life and prevention of complications. This review summarizes current evidence on the presentation, diagnosis, and management of MODY, an example of a genetic cause of hyperglycemia that calls for a precision medicine approach.

Timing Is Important-Management of Metabolic Syndrome According to the Circadian Rhythm.

Physiological processes occur in accordance with a rhythm regulated by the endogenous biological clock. This clock is programmed at the molecular level and synchronized with the daily light-dark cycle, as well as activities such as feeding, exercise, and social interactions. It consists of the core clock genes, Circadian Locomotor Output Cycles Protein Kaput (CLOCK) and Brain and Muscle Arnt-Like protein 1 (BMAL1), and their products, the period (PER) and cryptochrome (CRY) proteins, as well as an interlocked feedback loop which includes reverse-strand avian erythroblastic leukemia (ERBA) oncogene receptors (REV-ERBs) and retinoic acid-related orphan receptors (RORs). These genes are involved in the regulation of metabolic pathways and hormone release. Therefore, circadian rhythm disruption leads to development of metabolic syndrome (MetS). MetS refers to a cluster of risk factors (RFs), which are not only associated with the development of cardiovascular (CV) disease (CVD), but also with increased all-cause mortality. In this review, we consider the importance of the circadian rhythm in the regulation of metabolic processes, the significance of circadian misalignment in the pathogenesis of MetS, and the management of MetS in relation to the cellular molecular clock.

Multiple Evanescent White Dot Syndrome Associated with Coronavirus Infection: A Case Report.

Coronavirus disease 2019 (COVID-19) causes ocular manifestations in approximately 11% of patients. Most patients typically develop ocular symptoms within 30 days of the onset of the first COVID-19 symptoms. The most common ocular manifestation is conjunctivitis, which affects nearly 89% of patients with eye problems. Other much less common anterior segment abnormalities caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are scleritis, episcleritis, and acute anterior uveitis. Posterior segment abnormalities caused by SARS-CoV-2 are mainly vascular, such as hemorrhages, cotton wool spots, dilated veins, and vasculitis. Herein, we report a rare manifestation of COVID-19 and multiple evanescent white dot syndrome (MEWDS) of the retina. In April 2021, a 40-year-old female patient was admitted to the Eye Clinic of Clinical Center of Montenegro (Podgorica, Montenegro). The patient's main complaint was sudden vision impairment, which occurred 14 days after a positive polymerase chain reaction (PCR) test result for SARS-CoV-2 infection. A complete eye examination was performed, followed by fundoscopy, optical coherence tomography (OCT), and fluorescein angiography (FA) tests. The results showed retinal changes associated with MEWDS. The patient underwent additional examinations to rule out common causes of multifocal retinitis, all of which were unremarkable. Therefore, it was concluded that retinitis was a complication of COVID-19. Given its non-invasive nature, fundus examination should be used as a standard screening method for retinal changes in patients with COVID-19.

Exploring factors that influence the practice of Open Science by early career health researchers: a mixed methods study.

Background: There is a growing global movement towards open science and ensuring that health research is more transparent. It is vital that the researchers are adequately prepared for this research environment from early in their careers. However, limited research has been conducted on the barriers and enablers to practicing open science for early career researchers. This study aimed to explore the views, experiences and factors influencing open science practices amongst ECRs working in health research. Methods: Semi-structured individual interviews were conducted with a convenience sample of ECRs working in health research. Participants also completed surveys regarding the factors influencing open science practices. Thematic analysis was used to analyse the qualitative data and descriptive statistical analyses were used to analyse survey data. Results: 14 ECRs participated. Two main themes were identified from interview data; Valuing Open Science and Creating a Culture for Open Science. Within 'Valuing Open Science', participants spoke about the conceptualisation of open science to be open across the entire research cycle, and important for producing better and more impactful research for patients and the public. Within 'Creating a Culture of Open Science' participants spoke about a number of factors influencing their practice of open science. These included cultural and academic pressures, the positives and negatives of increased accountability and transparency, and the need for more training and supporting resources to facilitate open science practices. Conclusion: ECRs see the importance of open science for beneficially impacting patient and public health but many feel that they are not fully supported to practice open science. Resources and supports including education and training are needed, as are better incentives for open science activities. Crucially, tangible engagement from institutions, funders and researchers is needed to facilitate the development of an open science culture.