New insights on the systematics of echinoids belonging to the family Spatangidae Gray, 1825 using a combined approach based on morphology, morphometry, and genetics

Spatangoids are probably the least resolved group within echinoids, with known topological incongruencies between phylogenies derived from molecular (very scarce) and morphological data. The present work, based on the analysis of 270 specimens of Spatangidae (Echinoidea, Spatangoida) trawled in the Sardinian seas (Western Mediterranean), allowed us to verify the constancy of some characters that we consider to be diagnostic at the genus level —such as the path of the subanal fasciole and the relationship between labrum and adjacent ambulacral plates —and to distinguish two distinct forms within the studied material. Based on morphological characters, morphometrics, and molecular analyses (sequencing of two mitochondrial markers: cytochrome c oxidase subunit1 (COI) and 16S), most of the individuals were classified as morphotype A and attributed to the species Spatangus purpureus, the most common spatangoid in the Mediterranean Sea, while a few corresponded to a different morphotype (B), genetically close to the species Spatangus raschi. Preliminary morphological analyses seemed to indicate that morphotype B specimens from Sardinia are slightly different from S. raschi and from Spatangus subinermis individuals, the second species of the family known to occur in the Mediterranean Sea. On the basis of morpho-structural observations and molecular analyses, comparing Mediterranean living forms with species from other areas (Central Eastern Atlantic, North Sea and neighboring basins, South African Sea, Philippines and Indonesian Archipelago, New Zealand, and Hawaiian Islands), the clear distinction of S. purpureus from several other species classified as Spatangus was confirmed. Based on the morphological and genetic differences, we propose to maintain the genus Spatangus including in it only the type species S. purpureus among the living species and to establish the new genus Propespatagus nov. gen. to include several other species previously classified as Spatangus. The clear distinction among different genera was also detected in fossil forms of Spatangus, Propespatagus nov. gen., and Sardospatangus (†) from the European Oligo-Miocene sedimentary rocks of Germany; the Miocene of Ukraine, Italy, and North Africa; the Plio-Pleistocene of Italy; and the Mio-Pliocene of Florida (USA). The new data can help in addressing taxonomic ambiguities within echinoids, as well as in improving species identification, and hence biodiversity assessments in the Mediterranean region

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

PURPOSE: Danon disease (DD) is a rare X-linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. METHODS: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45-year-old asymptomatic female somatic mosaic carrier of a LAMP2 disease-causing variant. RESULTS: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone-rod involvement overtime. Spectral-domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full-field electroretinography was normal. CONCLUSIONS: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease

State of the world’s plants and fungi 2020

Kew’s State of the World’s Plants and Fungi project provides assessments of our current knowledge of the diversity of plants and fungi on Earth, the global threats that they face, and the policies to safeguard them. Produced in conjunction with an international scientific symposium, Kew’s State of the World’s Plants and Fungi sets an important international standard from which we can annually track trends in the global status of plant and fungal diversity

A new occurrence of armenite in Sardinia, Italy

The rare mineral armenite was recently found at the Aletzi Valley (SW Sardinia, Italy). Although it is the second occurrence in Sardinia, a comparison between the two armenites was deemed interesting to emphasize the similarity of their mineralogical characteristics related to similar petrographical contexts at the two occurrence sites. The cell parameters, obtained by a least-squares refinement of the X-ray powder diffraction data, are in good agreement with those of other armenites known from the literature