Nosology of genetic skeletal disorders: 2023 revision.

The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine

Lipid and fatty acid composition, and persistent organic pollutant levels in tissues of migrating Atlantic bluefin tuna (Thunnus thynnus, L.) broodstock

Lipid class, fatty acid and POP levels were measured in migrating Atlantic bluefin tuna (ABT) tissues caught off the Barbate coast, Spain. Tissue lipids were largely characterized by triacylglycerol, reflecting large energy reserves accumulated prior to reproductive migration. Fatty acid compositions of muscle, liver and adipose exhibited similar profiles, whereas gonads showed a higher affinity for docosahex- aenoic acid. Tissue POP concentrations correlated positively with percentage triacylglycerol and nega- tively with polar lipids. Highest POP concentrations were in adipose and lowest in gonads, reflecting lipid content. DL-PCBs contributed most to total PCDD/F þ DL-PCB levels, with mono-ortho concentrations higher in tissues, whereas non-ortho PCBs contributed greater WHO-TEQs due to differences in TEFs. PBDE47 was the most prominent BDE congener in tissues, probably through biotransformation of BDE99 and other higher brominated congeners. The perceived POP risk from ABT consumption should be balanced by the well-established beneficial effects on human health of omega-3 fatty acids

Some hydroids (Cnidaria: Hydrozoa) from the Mid-Atlantic Ridge, in the North Atlantic Ocean

An account is given of some hydroids from the Mid-Atlantic Ridge, collected during dives of submersibles "Nautile" (operated by IFREMER, France) and "Alvin" (operated by Woods Hole Oceanographic Institution, U.S.A). The specimens came from three main sectors of the ridge: 15 species from localities near hydrothermal fields (540-1727 m) SW of the Azores, five species from an area (2565-3902 m) west of the Cape Verde Islands near Researcher Ridge, and one species from a site (4529-4578 m) within the Vema Fracture zone west of Guinea Bissau. In all, 21 species were distinguished, comprising two anthoathecates and 19 leptothecates. The families Lafoeidae and Sertulariidae were best represented, with six and four species respectively. Halecium profundum spec. nov., from the vicinity of Researcher Ridge, and Zygophylax echinata spec, nov., from the Menez Gwen hydrothermal field area south-west of the Azores, are described. Cladocarpus cartieri was discovered, for just the second time, at another station near the Menez Gwen field. The fauna was comprised largely of deep-water species. However, some eurybathic boreal species frequent in the neritic zone (e.g. Grammaria abietina, Diphasia margareta, Sertularella tenella, Nemertesia antennina, N. ramosa) were represented at certain stations near the Azores. Also present at one of these stations was the typically shallow-water boreal athecate, Ectopleura larynx. Six of the species (Eudendrium planum, Halecium profundum, spec, nov., Acryptolaria longitheca, Cryptolarella abyssicola, Zygophylax levinseni, and ?Opercularella spec.) were recorded from depths of 3000 m or more. The only species in samples from depths exceeding 4000 m was Cryptolarella abyssicola. None of the

Spatial Stochastic Models for Seabed Object Detection

We introduce two statistical models designed to detect discrete objects in sidescan SONAR which consider complimetary approaches to the problem. The first considers a complex textural model for the objects and implements detection through a dual hypothesis on texture class presence, while the second implements a complex Gibbs field model of the image and utilises prior knowledge of typical object morphologies to support its detection rate. The models are demonstrated on examples of different seabed sediments and object types, and are shown to be reliable in operation. The common theme of the two models is use of spatial context in analysis, which, we argue, is a very powerful technique for improving the flexibility and reliability of any analysis system. Keywords: Spatial Models, Multidimensional Log-normal distribution, Bayesian Image Reconstruction, Gibbs Fields, Markov Chain Monte Carlo techniques 1. INTRODUCTION We consider in this paper the problem of detection of discrete obje..

Seabed Classification Through Multifractal Analysis of Sidescan Sonar Imagery

This paper presents a technique for the classification and analysis of seabed sediments from sidescan sonar image, the origins of which lie in the body of fractal theory. Six seabed types were analysed, namely clay, mud, sand, gravel, stones and rock. These data sets have previously been analysed by several authors who have used techniques based on the power spectrum. The method proposed in this paper allows frequency information to be obtained but without the use of large windows which are generally required for frequency domain measurements. Results are presented for the classification of individual ground-truthed sediments and the segmentation of composite images containing these sediments. Correct classification rates of greater then 99% have been obtained and good segmentation accuracy achieved. Keywords:- swathe seabed classification, sidescan sonar, fractals. Defence Research Agency, Newton's Road, Weymoth, Dorset y Department of Computing and Electrical Engineering, Heriot..