Орфанные заболевания: синдром Шиммельпеннинга — Фейерштейна — Мимса

Schimmelpenning Feuerstein Mims syndrome is a rare congenital hereditary syndrome characterized by the presence of one or more sebaceous nevi, structural and functional disorders of the visual, cardiovascular, bone and central nervous systems. The main marker of Schimmelpenning syndrome is the presence of sebaceous nevi on the skin of the face and neck a hamart of epidermal-follicular-sebaceous-apocrine origin. The aim of the article is to present our own clinical observation of Schimmelpenning Feuerstein Mims syndrome from the orphan diseases group. The syndrome is associated with a wide range of possible congenital pathologies, so such patients need timely interdisciplinary medical monitoring.Синдром Шиммельпеннинга Фейерштейна Мимса редкий врожденный, наследственный синдром, характеризующийся наличием одного или нескольких себорейных невусов, структурными и функциональными нарушениями зрительной, сердечно-сосудистой, костной и центральной нервной систем. Главным маркером синдрома Шиммельпеннинга является присутствие невусов на коже лица и шеи гамартом эпидермально-фолликулярно-себацейно-апокринового происхождения. Целью публикации является описание клинического случая собственное наблюдение редкого заболевания из группы орфанных синдрома Шиммельпеннинга Фейерштейна Мимса. Синдром ассоциирован с широким спектром возможных врожденных патологий, поэтому таким пациентам необходим своевременный междисциплинарный медицинский контроль

Multi-scale modeling and synthesis of polyester ionomers

Simulations of microphase separation are carried out using the dissipative particle dynamics (DPD). By varying the concentration and temperature of resin solutions we explore mesomorphologies supported by the all-atom models. We found that for a low degree of functionalization the homogeneously distributed ionomers self-assemble into spherical micelles at solid loads below 31 wt%, subject to the activation energy barrier for the gradual growth of pre-micellar aggregates. Computed optimum aggregation numbers exhibit sensitivity to both the temperature-dependent interfacial tension and the ionic content and compare well with the experimental observations. This journal is \ua9 the Owner Societies.Peer reviewed: YesNRC publication: Ye

Metal-organic frameworks based on octafluorobiphenyl-4,4′-dicarboxylate: Synthesis, crystal structure, and surface functionality

In contrast to aromatic carboxylates, the coordination polymers based on their perfluorinated analogues are not numerous. Here we present a series of six Zn(ii) coordination polymers of different dimensionalities (1D, 2D, and 3D) and porosities based on octafluorobiphenyl-4,4′-dicarboxylate (oFBPDC2-) and N-containing co-ligands (ur, dabco, and bpy). These complexes are characterized by single-crystal X-ray diffraction, PXRD, FT-IR, elemental analysis, and TGA. The metal-organic frameworks [Zn2(CH3CONH2)2(oFBPDC)2] (1) and [Zn2(oFBPDC)2(dabco)] (4) are shown to be porous with BET surface areas of 470 m2 g-1 and 441 m2 g-1, respectively. In addition, compound 4 shows selectivity factors of 11.3, 4.9 and more than 6 for the binary gas mixtures CO2/N2, CO2/CH4 and benzene/cyclohexane, respectively. The measurements for pressed powders and water droplet give water contact angles of 136° for 4 and 133° for (H2bpy)[Zn2(bpy)(oFBPDC)3] (5). Low water uptake indicates that both 4 and 5 belong to highly hydrophobic solids. © The Royal Society of Chemistry

Tuning the Molecular and Cationic Affinity in a Series of Multifunctional Metal-Organic Frameworks Based on Dodecanuclear Zn(II) Carboxylate Wheels

A series of new zinc(II)-thiophene-2,5-dicarboxylate (tdc) MOFs based on novel dodecanuclear wheel-shaped building blocks has been synthesized in almost quantative yields. Single-crystal X-ray diffraction analyses reveal 3D porous frameworks with a complex composition [Zn12(tdc)6(glycolate)6(dabco)3] where glycolate is a deprotonated polyatomic alcohol (ethylene glycol, EgO2, 1; 1,2-propanediol, PrO2, 2; 1,2-butanediol, BuO2, 3; 1,2-pentanediol, PeO2, 4; glycerol, GlO2, 5) and dabco is 1,4-diazo[2.2.2.]bicyclooctane. All compounds 1-5 are isostructural except for pendant groups of the diols decorating the surface of channels. The adsorption of small gases (N2, CO2, CH4, C2H2, C2H4, C2H6) and larger hydrocarbons (benzene, cyclohexane) both in liquid and vapor phases was thoroughly investigated for all compounds. The zero-coverage adsorption enthalpies, Henry constants, and selectivity factors by various models are calculated and discussed. The versatile adsorption functionality of the title series results from the variable nature of the diol and could be tailored for a specific adsorbate system. For example, 1 shows excellent selectivity of benzene over cyclohexane (20:1 for vapors, 92:1 for liquid phase), while 4 demonstrates unprecedented adsorption preference of cyclohexane over benzene (selectivity up to 5:1). The compound 5 demonstrates great adsorption selectivity for CO2/N2 (up to 75.1), CO2/CH4 (up to 7.7), C2H2/CH4 (up to 14.2), and C2H4/CH4 (up to 9.4). Also, due to polar nature of the pores, 5 features size-selective sorption of alkaline metal cations in order Li+ > Na+ > K+ > Cs+ as well as a notable luminescent response for cesium(I) ions and urea. © 2019 American Chemical Society