Mass extinctions, climatic and oceanographic changes at the Devonian/Carboniferous boundary

A positive carbon isotope excursion is reported for the global Hangenberg Event at the Devonian/Carboniferous boundary, revealed by a correlation of Austrian, Italian, French and German sections using high-resolution conodont biostratigraphy. The $\delta^{13}C_{carb,org}$ excursions indicate global change in the isotopic composition of marine dissolved $HCO_{3}$- and atmospheric $CO_{2}$, which resulted from the increased burial of organic matter by globally widespread black shale deposition during high seawater temperatures, as indicated by $\delta^{18}O_{phosph}$ of conodonts. Low temperatures are recorded in beds overlying the regressive event phase, correlated previously with a glacial episode in Gondwana. Glacially induced sea-level changes were testified by a correlation of Moroccan siliciclastic beds using litho- and ammonoid stratigraphy. The data support the hypothesis that increased $C_{org}$ burial and oceanic anoxia triggered glaciations, eustatic sea-level changes and mass extinctions at the D/C boundary

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body movement. Furthermore, it has been shown that CSF flow within and across brain ventricles depends on cilia motility of the ependymal cells lining the brain ventricles, which play a crucial role to maintain patency of the narrow sites of CSF passage during brain formation in mice. Using whole-exome and whole-genome sequencing, we identified an autosomal-dominant cause of a distinct motile ciliopathy related to defective ciliogenesis of the ependymal cilia in six individuals. Heterozygous de novo mutations in FOXJ1, which encodes a well-known member of the forkhead transcription factors important for ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry. Mutant respiratory epithelial cells are unable to generate a fluid flow and exhibit a reduced number of cilia per cell, as documented by high-speed video microscopy (HVMA), transmission electron microscopy (TEM), and immunofluorescence analysis (IF). TEM and IF demonstrate mislocalized basal bodies. In line with this finding, the focal adhesion protein PTK2 displays aberrant localization in the cytoplasm of the mutant respiratory epithelial cells

Earliest Mississippian rugose corals of eastern Australia: post-disaster fauna across the Devonian-Carboniferous boundary?

The most earliest Mississippian rugose corals are post-disaster taxa occurring in a biosphere strongly modified by the crises associated with the Devonian-Carboniferous Boundary. In Western Europe, basal Tournaisian rugose corals belong to the genera Conilophyllum, Hebukophyllum and Kizilia. Conilophyllum and Hebukophyllum are either homeomorphs or close relatives of each other and are likely post-disaster fauna showing wide morphological plasticity but with an unknown origin. Kizilia is a Lazzarus taxon, known also from basal Tournaisian strata of China, that suddenly reappeared at the Devonian-Carboniferous Boundary being related to the mid-Devonian stringophyllids. The deeper basinal facies of Western Europe (Montagne Noire, Rhenish Mts, Thuringia, Upper Franconia) yield mostly small non-dissepimented solitary rugose corals, together with some dissempimented ones, amongst which are mostly long-ranging taxa. In N America, Vesiculophyllum, a genus very similar, and probably related, to Kizilia occurs together with non-dissepimented long-ranging corals. Like most of the basal Tournaisian dissepimented rugose corals, Cystodactylon orbum gen. et sp. nov. and Gudmania darumbalae gen. et sp. nov. from the basal Tournaisian of eastern Australia are interpreted as post-disaster fauna. Their origin is not understood to date and they seemingly left no descent in the Carboniferous. Their stratigraphic range is extremely limited as they so far are known only in small reefs at the base of the lower Tournaisian Gudman Formation in the type area

Das Lagemanagement des Robert Koch-Instituts während der COVID-19-Pandemie und der Austausch zwischen Bund und Ländern

The Robert Koch Institute (RKI) plays a central role in Germany in the management of health hazards of biological origin. The RKI's crisis management aims to contribute to protecting the health of the population in Germany in significant epidemic situations and to maintain the RKI's working ability over a long period of time even under high load. This article illustrates the crisis management of the RKI in general as well as during the COVID-19 pandemic. The generic RKI crisis management structures and the setup of the RKI emergency operations centre (EOC), their operationalisation in the context of the COVID-19 pandemic and the resulting challenges as of 31 October 2020 are described in this paper. The exchange between the federal and state governments during the pandemic is also described.The COVID-19 pandemic has led to extraordinary circumstances. During the epidemic situation, good communication and coordination has been essential, both within the RKI and with other federal or state authorities and expert groups. Under great pressure, the RKI produces and regularly updates recommendations, statements and assessments on various topics. To provide operational support for all COVID-19 related activities, an EOC was activated at the RKI. During the COVID-19 pandemic, there are various challenges regarding personnel and structures. It became apparent that good preparation (e.g. existing task descriptions and premises) has an important positive impact on crisis management

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Background: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations. (J Allergy Clin Immunol 2021;148:1332-41.