Objectives-Microvillus inclusion disease (MVID) is a rare autosomal recessive enteropathy characterized by intractable diarrhea and malabsorption. Recently, various MYO5B gene mutations have been identified in MVID patients. Interestingly, several MVID patients showed only a MYO5B mutation in one allele (heterozygous) or no mutations in the MYO5B gene, illustrating the need to further functionally characterize the cell biological effects of the MYO5B mutations.Methods-The genomic DNA of nine patients diagnosed with microvillus inclusion disease was screened for MYO5B mutations, and qPCR and immunohistochemistry on the material of two patients was performed to investigate resultant cellular consequences.Results-We demonstrate for the first time that MYO5B mutations can be correlated with altered myosin Vb mRNA expression and with an aberrant subcellular distribution of the myosin Vb protein. Moreover, we demonstrate that the typical and myosin Vb-controlled accumulation of rab11a-and FIP5-positive recycling endosomes in the apical cytoplasm of the cells is abolished in MVID enterocytes, which is indicative for altered myosin Vb function. Also, we report 8 novel MYO5B mutations in 9 MVID patients of various etnic backgrounds, including compound heterozygous mutations.Conclusions-Our functional analysis indicate that MYO5B mutations can be correlated with an aberrant subcellular distribution of the myosin Vb protein and apical recycling endosomes which,

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: MYO5B mutations have divergent effects on the apical membrane system in kidney and intestinal epithelial cells. Epithelial defects presented in MVID are therefore likely triggered by intestine-specific factors, the identification of which may provide new targets and open avenues for the development of alternative therapeutic strategies to combat this devastating disease.

The study aims at analysing the occupational burnout phenomenon, the level of anxiety and depression, as well as the quality of life (QOL) of healthcare workers (HCW) during the COVID-19 pandemic. There were 497 healthcare workers examined across Poland. The Maslach Burnout Inventory (MBI), Hospital Anxiety Depression Scale (HADS) and World Health Organization Quality of Life Instrument Short Form (WHOQOL BREF) were used. A total of 71.63% (356) of the respondents presented high and moderate levels of emotional exhaustion during the pandemic, 71.43% (355) reported low and moderate job satisfaction levels, whereas 40.85% (203) displayed high and moderate levels of depersonalization. A group of 62.57% (n = 311) demonstrated clear or borderline states of anxiety disorders, while 38.83% (n = 193) suffered from depression or its borderline symptoms. Direct predictors of occupational burnout included: escalating depression; quality of life domains such as the physical, psychological and social; being provided personal protective equipment (PPE) by an employer; age; medical profession; and material status. Emotional exhaustion appeared to be much higher in nursing and ‘other’ medical professionals than in physiotherapists (p = 0.023). In the times of pandemic, the occupational burnout prophylaxis ought to be focused on early recognition of depression like symptoms and their treatment, as well as providing the staff with PPE and satisfying earnings.