BBSome-deficient cells activate intraciliary CDC42 to trigger actin-dependent ciliary ectocytosis.

Bardet-Biedl syndrome (BBS) is a pleiotropic ciliopathy caused by dysfunction of the BBSome, a cargo adaptor essential for export of transmembrane receptors from cilia. Although actin-dependent ectocytosis has been proposed to compensate defective cargo retrieval, its molecular basis remains unclear, especially in relation to BBS pathology. In this study, we investigated how actin polymerization and ectocytosis are regulated within the cilium.

Fine-Tuning of the Optical and Electrochemical Properties of Ruthenium(II) Complexes with 2-Arylbenzimidazoles and 4,4'-Dimethoxycarbonyl-2,2'-bipyridine.

A series of cyclometalated complexes of ruthenium (II) with four different substituents in the aryl fragment of benzimidazole was synthesized in order to study the effect of substituent donation on the electronic structure of the substances. The resulting complexes were studied using X-ray diffraction, NMR spectroscopy, MALDI mass spectrometry, electron absorption spectroscopy, luminescence spectroscopy, and cyclic voltammetry as well as DFT/TDDFT was also used to interpret the results. All the complexes have intense absorption in the range of up to 700 nm, the triplet nature of the excited state was confirmed by measurement of luminescence decay.

[The effect of the FODMAP and rebamipid diet on the activity of disaccharidases in patients with enteropathy with impaired membrane digestion].

Aim: To compare the effect of a diet low in fermentable oligo-, di-, monosaccharides and polyols (fermentable oligosaccharides, disaccharides, monosaccharides and polyols - FODMAP) and rebamipide on carbohydrate tolerance and disaccharidases activity in patients with maldigestive enteropathy (ENMP).

Materials And Methods: The study included 61 patients with ENMP with reduced small intestine carbohydrases. Their glucoamylase activity was 100 ng glucose/mg tissue × min (quartile 53, 72), maltase - 504 (quartile 258, 708), sucrase - 43 (quartile 25, 58), lactase - 8 (quartile 4, 20).

[Zonulin and I-FABP are markers of enterocyte damage in celiac disease].

Aim: To evaluate the level of serum I-FABP (Fatty-Acid-Binding Protein a protein that binds fatty acids) and fecal zonulin as markers of the permeability of the mucous membrane of the small intestine in celiac patients.

Materials And Methods: A total of 151 celiac patients (25 men and 126 women) were examined. The median age was 42 years.

A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.

Introduction: Vulto-van Silfhout-de Vries Syndrome (VSVS; OMIM#615828) is a rare hereditary disease associated with impaired intellectual development and speech, delayed psychomotor development, and behavioral anomalies, including autistic behavioral traits and poor eye contact. To date, 27 patients with VSVS have been reported in the literature. Materials and Methods: We describe a 23-year-old male patient with autism spectrum disorder (ASD) who was admitted to the gastroenterological hospital with signs of pseudomembranous colitis.