Search

Homozygous mutations in the DNAJB4 (NM_007034) gene impair HSP40 function and lead to isolated muscle disease by disturbing myofibril maintenance. Patients affected by the homozygous variant have early respiratory failure due to diaphragm involvement and rigid-spine-like characteristics. In our case report, we describe a 23-year-old male Moroccan patient who was first admitted to the intensive care unit for acute respiratory failure, requiring intubation and mechanical ventilation, followed by a tracheostomy. His medical history included surgical intervention for scoliosis at the age of 10. Consanguinity in the family was present. A motor deficit of the distal upper limbs and a slightly waddling gait were found at the neurological examination. Creatine kinase values were elevated (10x upper normal limit). The pulmonary function tests showed a restrictive respiratory syndrome, with a decreased forced vital capacity (FVC) of 20% of theoretical values. The NCS and EMG ruled out a neuromuscular junction disorder while showing a myogenic pattern. The deltoid muscle biopsy showed unequal-sized muscle fibers with few rimmed vacuoles. Gomori trichrome staining confirmed the presence of sarcoplasmic protein aggregates and dark central inclusions, while the oxidative techniques revealed numerous abnormalities in the intermyofibrillar network, similar to those observed in myofibrillar myopathy. Genetic analysis by NGS panel sequencing identified a homozygous deletion c.(?_1)_(1014_?)del, p.? (HGVS nomenclature) of the entire DNAJB4 gene, confirmed by qPCR. Both healthy parents exhibited the variant at the heterozygous state. A similar phenotype was recently described by Weihl. et al. in three families with affected individuals being homozygous for different pathogenic variants in the DNAJB4 gene, however not including deletions of the gene. Our findings suggest that the c.(?_1)_(1014_?)del, p.? deletion in DNAJB4 can also lead to a hereditary myopathy at the homozygous state. [ABSTRACT FROM AUTHOR]

A multistep synthesis of a new tetra-amidate macrocyclic ligand functionalized with alkyl-thiophene moieties, 15,15-bis(6-(thiophen-3-yl)hexyl)-8,13-dihydro-5H-dibenzo[b,h][1,4,7,10]tetraazacyclotridecine-6,7,14,16(15H,17H)-tetraone, H 4 L, is reported. The reaction of the deprotonated ligand, L 4- , and Cu(II) generates the complex [LCu] 2- , that can be further oxidized to Cu(III) with iodine to generate [LCu] - . The H 4 L ligand and their Cu complexes have been thoroughly characterized by analytic and spectroscopic techniques (including X-ray Absorption Spectroscopy, XAS). Under oxidative conditions, the thiophene group of [LCu] 2- complex polymerizes on the surface of graphitic electrodes (glassy carbon disks (GC), glassy carbon plates (GC p ), carbon nanotubes (CNT), or graphite felts (GF)) generating highly stable thin films. With CNTs deposited on a GC by drop casting, hybrid molecular materials labeled as GC/CNT@p-[LCu] 2- are obtained. The latter are characterized by electrochemical techniques that show their capacity to electrocatalytically oxidize water to dioxygen at neutral pH. These new molecular anodes achieve current densities in the range of 0.4 mA cm -2 at 1.30 V versus NHE with an onset overpotential at ≈250 mV. Bulk electrolysis experiments show an excellent stability achieving TONs in the range of 7600 during 24 h with no apparent loss of catalytic activity and maintaining the molecular catalyst integrity, as evidenced by electrochemical techniques and XAS spectroscopy., (© 2023 The Authors. Advanced Materials published by Wiley-VCH GmbH.)

During the light-dependent reaction of photosynthesis, green plants couple photoinduced cascades of redox reactions with transmembrane proton translocations to generate reducing equivalents and chemical energy in the form of NADPH (nicotinamide adenine dinucleotide phosphate) and ATP (adenosine triphosphate), respectively. We mimic these basic processes by combining molecular ruthenium polypyridine-based photocatalysts and inverted vesicles derived from Escherichia coli. Upon irradiation with visible light, the interplay of photocatalytic nicotinamide reduction and enzymatic membrane-located respiration leads to the simultaneous formation of two biologically active cofactors, NADH (nicotinamide adenine dinucleotide) and ATP, respectively. This inorganic-biologic hybrid system thus emulates the cofactor delivering function of an active chloroplast., (© 2021 The Authors. Angewandte Chemie International Edition published by Wiley-VCH GmbH.)

Decoupling the production of solar hydrogen from the diurnal cycle is a key challenge in solar energy conversion, the success of which could lead to sustainable energy schemes capable of delivering H 2 independent of the time of day. Here, we report a fully integrated photochemical molecular dyad composed of a ruthenium-complex photosensitizer covalently linked to a Dawson polyoxometalate that acts as an electron-storage site and hydrogen-evolving catalyst. Visible-light irradiation of the system in solution leads to charge separation and electron storage on the polyoxometalate, effectively resulting in a liquid fuel. In contrast to related, earlier dyads, this system enables the harvesting, storage and delayed release of solar energy. On-demand hydrogen release is possible by adding a proton donor to the dyad solution. The system is a minimal molecular model for artificial photosynthesis and enables the spatial and temporal separation of light absorption, fuel storage and hydrogen release., (© 2022. The Author(s), under exclusive licence to Springer Nature Limited.)

The substitution behavior of the monodentate Cl ligand of a series of ruthenium(II) terpyridine complexes (terpyridine (tpy)=2,2':6',2''-terpyridine) has been investigated. 1 H NMR kinetic experiments of the dissociation of the chloro ligand in D 2 O for the complexes [Ru(tpy)(bpy)Cl]Cl (1, bpy=2,2'-bipyridine) and [Ru(tpy)(dppz)Cl]Cl (2, dppz=dipyrido[3,2-a:2',3'-c]phenazine) as well as the binuclear complex [Ru(bpy) 2 (tpphz)Ru(tpy)Cl]Cl 3 (3 b, tpphz=tetrapyrido[3,2-a:2',3'-c:3'',2''-h:2''',3'''-j]phenazine) were conducted, showing increased stability of the chloride ligand for compounds 2 and 3 due to the extended π-system. Compounds 1-5 (4=[Ru(tbbpy) 2 (tpphz)Ru(tpy)Cl](PF 6 ) 3 , 5=[Ru(bpy) 2 (tpphz)Ru(tpy)(C 3 H 8 OS)/(H 2 O)](PF 6 ) 3 , tbbpy=4,4'-di-tert-butyl-2,2'-bipyridine) are tested for their ability to run water oxidation catalysis (WOC) using cerium(IV) as sacrificial oxidant. The WOC experiments suggest that the stability of monodentate (chloride) ligand strongly correlates to catalytic performance, which follows the trend 1>2>5≥3>4. This is also substantiated by quantum chemical calculations, which indicate a stronger binding for the chloride ligand based on the extended π-systems in compounds 2 and 3. Additionally, a theoretical model of the mechanism of the oxygen evolution of compounds 1 and 2 is presented; this suggests no differences in the elementary steps of the catalytic cycle within the bpy to the dppz complex, thus suggesting that differences in the catalytic performance are indeed based on ligand stability. Due to the presence of a photosensitizer and a catalytic unit, binuclear complexes 3 and 4 were tested for photocatalytic water oxidation. The bridging ligand architecture, however, inhibits the effective electron-transfer cascade that would allow photocatalysis to run efficiently. The findings of this study can elucidate critical factors in catalyst design., (© 2021 The Authors. Chemistry - A European Journal published by Wiley-VCH GmbH.)

We report on the localization of the initially excited electronic state within the molecular framework of a series of [Ru(bpy) 2 dppz] 2+ derivatives (bpy:2,2'-bipyridine, dppz: dipyrido-phenazine) as sensitizers in NiO based photocathodes. The introduction of conjugated linkers with phenylene and triazole moieties in the bpy ligand sphere separates the NiO surface from the metal center and hence is considered to stabilize the charge separated state, which results from light-driven hole injection. However, introduction of the conjugated linkers also alters the localization of the excess electron density in the excited state within the ligand sphere and impacts the extent to which the charge-separated state is formed. The study emphasizes that tuning the ligand with the lowest-energy π* orbital distal or proximal to the NiO surface significantly affects the initial charge-separation and the solar cell performance. The stability of the charge-separated state correlates with the observed photocurrents in dye-sensitized solar cells. Furthermore, the study challenges the widely accepted concept that the introduction of extended anchoring groups, i.e. increasing Ru - NiO distance, stabilizes the charge-separated state and suppresses charge recombination at the metal-oxide molecule interface., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

McKenna reaction conditions are applied to the [Ru(4,4'-(CH 2 PO 3 Et 2 ) 2 (bpy)](PF 6 ) 2 model chromophore in order to obtain [Ru(4,4'-(CH 2 PO 3 TMS 2 ) 2 (bpy)](Br 2-x )(PF 6 ) x (x = 0-2) (2) by replacing the alkyl moieties of the phosphonates with TMS groups (TMS = trimethylsilyl). The model complex is immobilized onto both NiO powder and NiO electrodes on FTO (fluorine doped tin oxide) using organic solvents. The stability of surface binding in aqueous media and the DSC performance of 2 are tested and compared to those of a conventional dye of structure [Ru(4,4'-(CH 2 PO 3 TBA 2 ) 2 (bpy)](PF 6 ) 2 (1) (TBA = tetrabutyl ammonium). This is the first example of a ruthenium based chromophore with a phosphonic acid silyl-ester being directly immobilized onto a NiO surface. In addition, complex 2 exhibits superior stability towards desorption in aqueous media and at the same time showing improved DSC performance and stability in acetonitrile and a slightly higher dye loading on the electrode surface compared to 1.

An organic mixed valence compound with a spacer length of 25 unsaturated bonds separating two amine redox centres was synthesised and the electron transfer behaviour was investigated in the context of a Mulliken-Hush analysis in order to estimate the longest redox centre separation for which an intervalence charge transfer band can be observed.

We investigated the spectroscopic properties of a series of four bistriarylamine donor-pi-bridge-donor D-pi-D compounds (dimers), composed of two asymmetric triarylamine chromophores (monomers). UV/vis, fluorescence, and transient absorption spectra were recorded and compared with those of the corresponding D-pi monomers. Bilinear Lippert-Mataga plots indicate a major molecular reorganization of the excited state in polar media for all compounds. The excited states of the dimers are described as mixed-valence states that show, depending on the chemical nature of the pi bridge, a varying amount of interactions (couplings). We found that superradiant emission, that is, an enhancement of the fluorescence rate in the dimer, is observed only in the case of weak and medium coupling. Whether the first excited-state potential energy surface of the dimers is described by single minimum or a double minimum potential depends on the solvent polarity and the electronic coupling. In the latter case, the dimer relaxes in a symmetry broken CT state with partial positive charge at the triarylamine donor and negative charge at the pi bridge. The [2.2]paracyclophane bridged dimer is an example of a weakly coupled system because the spectroscopic behavior is very similar to the corresponding p-xylene monomer. In contrast, anthracene as well as p-xylene bridges mediate a stronger coupling and reveal a significant cooperative influence on the optical properties.

In this paper, we present the absorption properties of a series of bis-triarylamino-[2.2]paracyclophane diradical dications. The localized pi-pi and the charge-transfer (CT) transitions of these dications are explained and analyzed by an exciton coupling model that also considers the photophysical properties of the "monomeric" triarylamine radical cations. Together with AM1-CISD-calculated transition moments, experimental transition moments and transition energies of the bis-triarylamine dications were used to calculate electronic couplings by a generalized Mulliken-Hush (GMH) approach. These couplings are a measure for interactions of the excited mixed-valence CT states. The modification of the diabatic states reveals similarities of the GMH three-level model and the exciton coupling model. Comparison of the two models shows that the transition moment between the excited mixed-valence states mu(ab) of the dimer equals the dipole moment difference Delta of the ground and the excited bridge state of the corresponding monomer.

A series of [2.2]paracylophane-bridged bis-triarylamine mixed-valence (MV) radical cations were analyzed by a generalized Mulliken-Hush (GMH) three-level model which takes two transitions into account: the intervalence charge transfer (IV-CT) band which is assigned to an optically induced hole transfer (HT) from one triarylamine unit to the second one and a second band associated with a triarylamine radical cation to bridge (in particular, the [2.2]paracyclophane bridge) hole transfer. From the GMH analysis, we conclude that the [2.2]paracyclophane moiety is not the limiting factor which governs the intramolecular charge transfer. AM1-CISD calculations reveal that both through-bond as well as through-space interactions of the [2.2]paracyclophane bridge play an important role for hole transfer processes. These electronic interactions are of course smaller than direct pi-conjugation, but from the order of magnitude of the couplings of the [2.2]paracyclophane MV species, we assume that this bridge is able to mediate significant through-space and through-bond interactions and that the cyclophane bridge acts more like an unsaturated spacer rather than a saturated one. From the exponential dependence of the electronic coupling V between the two triarylamine localized states on the distance r between the two redox centers, we infer that the hole transfer occurs via a superexchange mechanism. Our analysis reveals that even significantly longer pi-conjugated bridges should still mediate significant electronic interactions because the decay constant beta of a series of pi-conjugated MV species is small.

We have investigated three organic mixed-valence systems that possess nearly identical inter-redox site distances and differ by the nature of the bridging units benzene, naphthalene, and anthracene: the N,N,N',N'-tetra(4-methoxyphenyl)-1,4-phenylenene-diamine radical cation (1+), the 1,4-bis(N,N-di(4-methoxyphenyl)-amino)naphthalene radical cation (2+), and the 9,10-bis(N,N-di(4-methoxyphenyl)amino)anthracene radical cation (3+). The electronic interactions in these systems have been studied by means of gas-phase ultraviolet photoelectron spectroscopy, vis/NIR spectroscopy, and electronic-structure calculations. The experimental and theoretical results concur to indicate that the strength of electronic interaction decreases in the following order of bridging units: benzene > naphthalene > anthracene. This finding contradicts the usual expectation that anthracene is superior to benzene as a driving force for electronic communication. We explain these results in terms of a super-exchange mechanism and its strong dependence on steric interactions.

Thianthrenophane 1 has a cavity which offers enough room to potentially enable endohedral coordination to small ions or molecules. For the complexation of silver(I) perchlorate the complex stability constants of 1 logK1=5.45 +/- 0.13 and of thianthrene logK2=9.16 +/- 0.10 were determined by UV/Vis titration. Single competition transport experiments with ten metal salts demonstrate a very high selectivity of 1 as a carrier for silver(I) and a distinctly higher transport rate compared to carriers such as thianthrene and 1,4,8,11-tetrathiacyclotetradecane (14-ane-S4). Although the X-ray crystal structure analysis of the polymeric [Ag(1)]ClO4.(dioxane)7 complex shows an exohedral coordination to silver(I) we suggest that the formation of an endohedral [Ag(1)]+ complex is the explanation for the unusual carrier selectivity of silver(I) by 1 in bulk liquid membrane.

The electronic and molecular structure of N,N,N',N'-tetraphenylphenylenediamine radical cation 1(+) is in focus of this study. Resonance Raman experiments showed that at least eight vibrational modes are strongly coupled to the optical charge resonance band which is seen in the NIR. With the help of a DFT-based vibrational analysis, these eight modes were assigned to symmetric vibrations. The contribution of these symmetric modes to the total vibrational reorganization energy is dominant. These findings are in agreement with the conclusions from a simple two-state two-mode Marcus-Hush analysis which yields a tiny electron-transfer barrier. The excellent agreement of the X-ray crystal structure analysis and the DFT computed molecular structure of 1(+) on one hand as well as the solvent and solid-state IR spectra and the DFT-calculated IR active vibrations on the other hand prove 1(+) adopts a symmetrical delocalized Robin-Day class III structure both in the solid state and in solution.

Objective: To review the evidence on the effects of disinfection of environmental surfaces in hospitals (as compared with cleaning without use of disinfectants) on the occurrence of nosocomial infections., Methods: Systematic review of experimental and nonexperimental intervention studies dealing with environmental disinfection or cleaning in different health care settings., Results: A total of 236 scientific articles were identified. None described a meta-analysis, systematic review, or randomized controlled trial. Only 4 articles described completed cohort studies matching the inclusion criteria. None of these studies showed lower infection rates associated with routine disinfection of surfaces (mainly floors) versus cleaning with detergent only., Conclusions: Disinfectants may pose a danger to staff, patients, and the environment and require special safety precautions. However, targeted disinfection of certain environmental surfaces is in certain instances an established component of hospital infection control. Given the complex, multifactorial nature of nosocomial infections, well-designed studies that systematically investigate the role of surface disinfection are required.

A time-saving method is described for the preparation of cultivated cells (monolayer) for electron microscopy using a new test chamber system (TCSC-1). The versatile chamber is fitted with a screw-in PTFE-adapter which connects via a silicone ring gasket to the surface on which the cells grown. All procedures (fixation, staining, embedding) are performed directly in the chamber. The cells, in this particular communication epithelial liver cells, are grown as a monolayer on polyester foils. After embedding of the cells, the foil can be easily taken off. Removal of the foil does not in any way effect the quality of the first slice for electron microscopic examination. The resin block can also be easily pressed out from the PTFE-adapter.