Hemizygous nonsense variant in the moesin gene leads to a new autoimmune phenotype of Immunodeficiency 50.

Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in one and diabetes mellitus in the other. The clinical picture and lupus anticoagulant, cryoglobulin, and cold agglutinin positivity suggested the diagnosis of antiphospholipid syndrome. Flow cytometry analysis showed immunophenotypes consistent with immune dysregulation: a low number of naive T cells, elevated CD4 T cell counts, and decreased CD8 T-cell counts were detected, and more than half of the T-helper population was activated.

Integrating land cover, point source pollution, and watershed hydrologic processes data to understand the distribution of microplastics in riverbed sediments.

Microplastics are emerging contaminants ubiquitously distributed in the environment, with rivers acting as their main mode of transport in surface freshwater systems. However, the relative importance of hydrologic processes and source-related variables for benthic microplastic distribution in river sediments is not well understood. We therefore sampled and characterized microplastics in river sediments across the Meramec River watershed (eastern Missouri, United States) and applied a hydrologic modeling approach to estimate the relative importance of river discharge, river sediment load, land cover, and point source pollution sites to understand how these environmental factors affect microplastic distribution in benthic sediments.

Effect of HEAT therapy in patiEnts with type 2 Diabetes mellitus (HEATED): protocol for a randomised controlled trial.

Introduction: The burden of type 2 diabetes mellitus (T2DM) is increasing worldwide. Heat therapy has been found effective in improving glycaemic control. However, to date, there is a lack of randomised controlled studies investigating the efficacy of heat therapy in T2DM.

Heat therapy shows benefit in patients with type 2 diabetes mellitus: a systematic review and meta-analysis.

Aims: Type-2 diabetes mellitus (T2DM) is a common health condition which prevalence increases with age. Besides lifestyle modifications, passive heating could be a promising intervention to improve glycemic control. This study aimed to assess the efficacy of passive heat therapy on glycemic and cardiovascular parameters, and body weight among patients with T2DM.

[Actor as a simulated patient in medical education at the University of Pécs].

Introduction: Medical training in the 21st century faces simulation-based education as one of the challenges that efficiently contributes to clinical skills development while moderating the burden on the clinicians and patients alike.

Aim: The University of Pécs, Medical School has launched a simulation program in the MediSkillsLab based on history taking with actors to improve patient interviewing communication skills.

Method: This new program was inspired by experiences gathered in previous medical language teaching and integrates the method of the "Standardized Patient Program".