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Usher syndrome (USH) is the most common form of monogenic deaf-blindness. Loss of vision is untreatable and, so far, there are no suitable animal models for testing therapeutic strategies. By introducing a human mutation into the harmonin-encoding USH1C gene in pigs, we generated the first translational animal model for USH type 1 with characteristic hearing defect, vestibular dysfunction and visual impairment. Changes in photoreceptor architecture, quantitative motion analysis and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. Primary cells from those animals and USH1C patients showed significantly elongated primary cilia, compared to wild-type, confirming the nature of USH as a true and general ciliopathy and proving the therapeutic capacity of gene supplementation and gene repair approaches.

he chytrid fungus Batrachochytrium salamandrivorans (Bsal), recently introduced from Asia to Europe, causes mortality in numerous species of salamanders and newts and has led to catastrophic declines and local extinctions of the European fire salamander (Salamandra salamandra) in the Netherlands, Belgium, and Germany. Due to the continuous spread of the pathogen, Germany can be considered as the current ‘hotspot’ of Bsal-driven salamander declines. The pathogen was detected in 2015 in the Eifel Mountains where it probably has been present at least since 2004. Moreover, Bsal was found in 2017 in the Ruhr District where it also might occur since 2004. The Ruhr District is a heavily urbanized and industrialized region in western Germany, which offers an unprecedented opportunity to monitor range expansion and infection dynamics of Bsal in an area affected by intense human activities. We here review the current knowledge on Bsal in the Ruhr District where the pathogen by now has been recorded based on qPCR data from 18 sites distributed over eight cities. Transect counts (adult salamanders) and larval removal-sampling at two sites where Bsal was recorded in 2017 and 2018, confirm that fire salamander populations at the affected sites have declined dramatically. However, single negative-tested individuals were still observed and reproduction could be ascertained. Moreover, we successfully detected Bsal by analysing environmental DNA (eDNA) from samples obtained from a standing water body as well as a stream. Detailed monitoring of a site in Essen (Kruppwald) from January to May 2019 provided data on infection and disease dynamics during an acute Bsal-outbreak in a population of European fire salamanders. After initial observation of single dead infected salamanders in January and February 2019, the maximum Bsal loads in the population ranged from 7.90E+03 ITS copies in early March to 2.29E+09 ITS copies at the end of March. Prevalence of infection ranged from 4% to 50% and significantly increased over time; prevalence of externally visible disease symptoms peaked on May 2 and May 8. Single dead salamanders were encountered throughout the monitoring period. Recaptures of two infected salamanders indicated an increase of Bsal load by about one order of magnitude within one week. Infected salamanders showed small-sized regular round ulcerations usually of 0.25–1 mm but sometimes up to 2.5 mm in diameter, which gave the impression of outward growth from the centre of each ulceration. Among salamander individuals monitored in the Kruppwald, such ulcerations were only found in infected salamanders, but we found no significant correlation between the intensity of the ulcerations and Bsal load. Heat treatment proved effective to cure even deep ulcerations when salamanders were kept for 10 days at 25–27°C or 14 days at 25°C, but infection persisted and ulcerations reappeared six weeks after the end of the treatment; only heat treatment at 25°C for 21 days proved effective to reliably clear the infection in three tested salamanders. Key words. Amphibia, Caudata, Salamandra salamandra, European fire salamander, Bsal, chytridiomycosis, heat treatment, emerging infectious disease, amphibian disease, eDNA. Deutsche Bundesstiftung Umwelt

Upon completion of this activity, participants will be able to: In support of improving patient care, this activity has been planned and implemented by Medscape, LLC and Springer Nature. Medscape, LLC is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team. 1.0 Release date: Expiration date: 19 April 2020 Post-test link: https://medscape.org/eye/posttest924758 Sobha Sivaprasad, MD, has disclosed the following relevant financial relationships: Served as an advisor or consultant for: Allergan, Inc.; Bayer AG; Boehringer Ingelheim Pharmaceuticals, Inc.; Heidelberg Pharma GmbH; Optos; Roche. Served as a speaker or a member of a speakers bureau for: Allergan, Inc.; Bayer AG; Novartis Pharmaceuticals Corporation; Optos. Received grants for clinical research from: Allergan, Inc.; Bayer AG; Boehringer Ingelheim Pharmaceuticals, Inc.; Novartis Pharmaceuticals Corporation; Optos. EOZ, MD, has disclosed no relevant financial relationships. BP, MD, has disclosed no relevant financial relationships. SO, MD, has disclosed no relevant financial relationships. SB, MD, has disclosed the following relevant financial relationships: served as a speaker or a member of a speakers bureau for: Allergan, Inc.; Bayer AG; Novartis Pharmaceuticals Corporation. RAA, MD, MPH, has disclosed no relevant financial relationships. FK, MD, has disclosed no relevant financial relationships. GG, MD, has disclosed no relevant financial relationships. AS, MD, has disclosed no relevant financial relationships. NA, MD, has disclosed no relevant financial relationships. Laurie Barclay, MD, Freelance writer and reviewer, Medscape, LLC, and has disclosed no relevant financial relationships. To evaluate the efficacy and safety of pars plana vitrectomy for symptomatic floaters. Forty-eight vitreoretinal surgeons from 16 countries provided information on 581 eyes who underwent vitrectomy for floaters in this retrospective survey study conducted by European VitreoRetinal Society. Percentage symptomatic improvement, incidence of retinal tears/detachment and post-vitrectomy cataract surgery, and the factors associated with satisfaction and complications were investigated. Ninety-two percent were satisfied with the results, with 86.3% reporting complete resolution of daily-life symptoms. Overall satisfaction was lower in patients with smaller vitreous opacities at presentation (OR:0.4). Iatrogenic retinal breaks occurred in 29 eyes (5%). Core vitrectomy and cut rates of 1500–4000 or >4000 cuts/min were associated with lower risk of retinal breaks than complete vitrectomy (OR:0.05) and cut rates 1500 cuts/min are favoured. Proper patient selection and informed consent are the most important aspects of surgery.

Lycian salamanders (genus Lyciasalamandra) constitute an exceptional case of micro-endemism of an amphibian species on the Asian Minor mainland. These viviparous salamanders are confined to karstic limestone formations along the southern Anatolian coast and some islands. We here study the genetic differentiation within and among 118 populations of all seven Lyciasalamandra species across the entire genus’ distribution. Based on circa 900 base pairs of fragments of the mitochondrial 16SrDNA and ATPase genes, we analysed the spatial haplotype distribution as well as the genetic structure and demographic history of populations. We used 253 geo-referenced populations and CHELSA climate data to infer species distribution models which we projected on climatic conditions of the Last Glacial Maximum (LGM). Within all but one species, distinct phyloclades were identified, which only in parts matched current taxonomy. Most haplotypes (78%) were private to single populations. Sometimes population genetic parameters showed contradicting results, although in several cases they indicated recent population expansion of phyloclades. Climatic suitability of localities currently inhabited by salamanders was significantly lower during the LGM compared to recent climate. All data indicated a strong degree of isolation among Lyciasalamandra populations, even within phyloclades. Given the sometimes high degree of haplotype differentiation between adjacent populations, they must have survived periods of deteriorated climates during the Quaternary on the spot. However, the alternative explanation of male biased dispersal combined with a pronounced female philopatry can only be excluded if independent nuclear data confirm this result. © 2020 Veith et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Die Umweltprobenbank des Bundes sammelt standardisiert Human- und Umweltproben und lagert diese veränderungsfrei für zukünftige Untersuchungen. Die große Auswahl an unterschiedlichen Matrizes aus verschiedenen Probenahmegebieten ermöglicht einen Überblick über die Belastungssituation des Menschen und seiner Umwelt. Die Schadstoffanalytik erfolgt sowohl im direkten Anschluss an die Probenahme (Real-Time-Monitoring) als auch in retrospektiven Untersuchungen an den eingelagerten Proben. Die hohe Standardisierung ermöglicht die Reproduzier- und Vergleichbarkeit der gesammelten Proben und lässt so eine Aussage über die zeitliche Veränderung der Belastungen zu. Die Umweltprobenbank des Bundes ist ein exzellentes Werkzeug für das Monitoring der Schadstoffbelastungen der Umwelt und des Menschen. Geringe zeitliche oder marginale regionale Unterschiede an Schadstoffkonzentrationen sind erfassbar, da die hierzu notwendigen Analysen standardisierter Umwelt- und Humanproben aus unterschiedlichen Jahren und Regionen zum gleichen Zeitpunkt durchgeführt werden können. Die Langzeitbeobachtung von Schadstoffbelastungen in Umwelt- und Humanproben ist eine wichtige Grundlage für gesetzliche Regulierungen von Chemikalien und deren Erfolgskontrolle. Damit ist die Umweltprobenbank des Bundes ein essenzielles Instrument des umweltbezogenen Gesundheitsschutzes in Deutschland.

We report on two new populations of Lyciasalamandra flavimembris from Bodrum/Muğla, based on fieldwork in March 2018. We studied the new populations morphologically and genetically (16SrDNA). According to these records, the known distribution range of the genus is extended about 40 km to the West. Morphologically and genetically, specimens from these two populations show similarities to both subspecies described so far. © Biharean Biologist, Oradea, Romania, 2020, We would like to thank Mr. Yakup ?a?maz (Ankara) and Ak?n Demir (Mu?la) for their assistance and thank Mr. Sabahattin O?UZ and Mrs. Asiye O?UZ (Mu?la) for their accommodation support during our fieldwork.

Infectious diseases are major drivers of biodiversity loss. The risk of fungal diseases to the survival of threatened animals in nature is determined by a complex interplay between host, pathogen and environment. We here predict the risk of invasion of populations of threatened Mediterranean salamanders of the genus Lyciasalamandra by the pathogenic chytrid fungus Batrachochytrium salamandrivorans by combining field sampling and lab trials. In 494 samples across all seven species of Lyciasalamandra, B. salamandrivorans was found to be absent. Single exposure to a low (1000) number of fungal zoospores resulted in fast buildup of lethal infections in three L. helverseni. Thermal preference of the salamanders was well within the thermal envelope of the pathogen and body temperatures never exceeded the fungus’ thermal critical maximum, limiting the salamanders’ defense opportunities. The relatively low thermal host preference largely invalidates macroclimatic based habitat suitability predictions and, combined with current pathogen absence and high host densities, suggests a high probability of local salamander population declines upon invasion by B. salamandrivorans. However, the unfavorable landscape that shaped intraspecific host genetic diversity, lack of known alternative hosts and rapid host mortality after infection present barriers to further, natural pathogen dispersal between populations and thus species extinction. The risk of anthropogenic spread stresses the importance of biosecurity in amphibian habitats. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.

Gallium hydride stabilized by the base quinonuclidine reacts with acetone under addition of the Ga-H function to the carbon���oxygen double bond yielding (HGa)5(OiPr)8O (1) as isolable compound. (HGa)5(OiPr)8O may be formally split in to four entities of HGa(OiPr)2 and one entity HGaO. The inner atomic skeleton of 1 is a novel Ga5O9 heterocluster with gallium atoms occupying the corners of a distorted trigonal bi-pyramid, an oxygen atom in the center and the remaining alcoholate oxygen atoms bridging eight of the nine edges of the bi-pyramid (X-ray diffraction analysis). Potassium indium alkoxide KIn(OtBu)4 has been used to synthesize several new compounds like In4(OtBu)8(C5H4)2 (2), (py)2CuIn(OtBu)4 (3), and [CuIn(OtBu)4]2 (4) by reaction with TiCl2cp2 (2) and CuCl (3, 4). All compounds were characterized by spectroscopic means and by X-ray structure analyses revealing novel polycyclic structures. �� 2019 The Authors. Published by Wiley-VCH Verlag GmbH & Co. KGaA.