Search

We present the results of the first study of a large cohort of patients with inherited retinal dystrophies (IRD) performed for the Polish population using whole-exome sequencing (WES) in the years 2016–2019. Moreover, to facilitate such diagnostic analyses and enable future application of gene therapy and genome editing for IRD patients, a Polish genomic reference database (POLGENOM) was created based on whole-genome sequences of healthy Polish Caucasian nonagenarians and centenarians. The newly constructed database served as a control, providing a comparison for variant frequencies in the Polish population. The diagnostic yield for the selected group of IRD patients reached 64.9%. The study uncovered the most common pathogenic variants in ABCA4 and USH2A in the European population, along with several novel causative variants. A significant frequency of the ABCA4 complex haplotype p.(Leu541Pro; Ala1038Val) was observed, as well as that of the p.Gly1961Glu variant. The first VCAN causative variant NM_004385.5:c.4004-2A>G in Poland was found and described. Moreover, one of the first patients with the RPE65 causative variants was identified, and, in consequence, could receive the dedicated gene therapy. The availability of the reference POLGENOM database enabled comprehensive variant characterisation during the NGS data analysis, confirming the utility of a population-specific genomic database for enhancing diagnostic accuracy. Study findings suggest the significance of genetic testing in elder patients with unclear aetiology of eye diseases. The combined approach of NGS and the reference genomic database can improve the diagnosis, management, and future treatment of IRDs. [ABSTRACT FROM AUTHOR]

Purpose: The aim of the study is to present a description of a case of a person suffering from schizoid personality disorder with a focus on the mechanisms that influenced the life choices of the patient. Case description: 27-year-old man with schizoid personality disorder has been struggling with it since childhood, which mostly caused by his dysfunctional family. The man considers himself unique because he composes music, wants to write a book, set up a theatre and claims that he is able to discover a lot in math, but does not implement it while living in a fantasy world. Discussion: It is thought-provoking that a person with a personality disorder characterized, among other things, by being indifferent to the praise or criticism of others and displaying emotional coldness, detachment, or shallow emotionality, is interested in areas in which emotions embodied in art are one of the main forms of expression, and encountering feedback from others is intrinsically linked to this. One explanation for this may be that the contact with the audience in the patient's chosen fields of art (electronic music making) is not direct. Conclusions: Currently, treatment for schizoid personality disorder is long and difficult. This is mainly due to the fact that these individuals are often indifferent to the need for change, which can lead to a lack of motivation for any treatment. The main methods include psychodynamic psychotherapy, group psychotherapy and sometimes medication. [ABSTRACT FROM AUTHOR]

During the growth period, in surface habitats, spiders catch enough prey to feed normally. In contrast, in the cave entrance zone, prey may be relatively scarce. Meta menardi inhabits this cave section, resulting in temporary starvation. We studied structural changes in the midgut epithelial cells of M. menardi during a short-term and a medium-term controlled starvation to mimic the occasional starvation in caves, during spring and autumn. Digestive cells, secretory cells and adipocytes were examined before the experimental starvation, in the middle and at the end of starvation. We used light microscopy, transmission electron microscopy and specific histochemical methods for the detection of lipids, polysaccharides and proteins. Detection of lysosomes, autolysosomes and apoptosis was also carried out. The general structures of the cells did not change during the experimental starvation in either season, while some specific differences in the ultrastructure were observed. In both sexes, in both seasons, the amounts of lipids, glycogen and proteins decreased during starvation. Larger amounts of lipids were found in autumn, while there were no significant differences in the amounts of glycogen and proteins. In both sexes, in both seasons, autophagy and apoptosis intensified with starvation in progress, but more intensively in females. Thus, autumn individuals, in contrast to spring ones, compile energy-supplying stores to confront the subsequent winter deficiency of prey in caves, while the cellular ultrastructures undergo the same starvation-dependant changes at any time during the growth period. [ABSTRACT FROM AUTHOR]

An efficient procedure for the synthesis of new enantiopure pyrrolidine-based sulfides bearing additional nitrogen donors and secondary amines based on a bicyclic 2-azanorbornane skeleton was developed. Their application as ligands in palladium-catalyzed Tsuji-Trost reactions led to high yields and up to 82% ee. [ABSTRACT FROM AUTHOR]

the article focuses on the three kinds of cell death that has been found in the midgut and hepatopancreas epithelium of the alimentary system of Neocaridina heteropoda including apoptosis, autophagy and necrosis.

The article discusses about the ultrastructure of the midgut epithelium of Telodeinopus aoutii (Myriapoda, Diplopoda. Millipedes help in biodegradation and fragmentation of dead plants and other organic matter. The midgut of T. aoutii consists of layers of different cells separated from the body cavity by visceral muscles.

The article studies the process of midgut epithelium formation during the development of Neocaridina heteropoda through the application of X-ray Microtomography (XMT).