31 research outputs found

    Herbivorous dinosaur jaw disparity and its relationship to extrinsic evolutionary drivers

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    COPYRIGHT: © 2016 The Paleontological Society. All rights reserved This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.MacLaren JA, Anderson PSL, Barrett P, Rayfield EJ (2016) Data from: Herbivorous dinosaur jaw disparity and its relationship to extrinsic evolutionary drivers. Dryad Digital Repository. http://dx.doi.org/10.5061/dryad.c78k

    Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

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    Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

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    The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    Looking back over the shoulder : new insights on the unique scapular anatomy of the tapir (Perissodactyla: Tapiridae)

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    Abstract: The musculoskeletal anatomy of the shoulder of many ungulates has been inferred from veterinary model taxa, with uniformity in muscle arrangements and attachment sites often assumed. In this study, I investigated the muscular and osteological anatomy of tapirs and their relatives (Perissodactyla: Tapiroidea), using a combination of gross dissection and digital imaging (photography and laser surface scanning). Dissections of three modern tapir species revealed that the m. infraspinatus originates from both supraspinous and infraspinous fossae for all species, lying on both sides of the distal scapular spine. The epimysial border between the m. supraspinatus and m. infraspinatus origin sites are marked in all species by an ossified ridge, sometimes extending the length of the scapular spine. This \u201csupraspinous ridge\u201d is clearly visible on the scapular surface of both modern and extinct Tapirus scapulae; however, the ridge does not appear present in any non\u2010 Tapirus tapiroids examined (e.g., Helaletes , Nexuotapirus ), nor in other perissodactyls or artiodactyls. Moreover, the ridge exhibits a clearly distinct morphology in Tapirus indicus compared to all other Tapirus species examined. Combined, these findings indicate that the presence and position of the \u201csupraspinous ridge\u201d may represent a robust phylogenetic character for reconstructing relationships within tapiroids. Unfortunately, any functional locomotor outcomes or benefits of the m. infraspinatus straddling the scapular spine remains elusive. This study represents a firm reminder for anatomists, veterinarians, and paleontologists to (where possible) look beyond veterinary model systems when inferring musculoskeletal form or function in non\u2010model organisms

    Modern tapirs as morphofunctional analogues for locomotion in endemic eocene European perissodactyls

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    peer reviewedTapirs have historically been considered as ecologically analogous to several groups of extinct perissodactyls based on dental and locomotor morphology. Here, we investigate comparative functional morphology between living tapirs and endemic Eocene European perissodactyls to ascertain whether tapirs represent viable analogues for locomotion in palaeotheres and lophiodontids. Forelimb bones from 20 species of Eocene European perissodactyls were laser scanned and compared to a forelimb dataset of extant Tapirus. Bone shape was quantified using 3D geometric morphometrics; coordinates were Procrustes aligned and compared using Principal Component Analysis and neighbor-joining trees. Functional traits included lever-arm ratios (LARs; proxy for joint angular velocity), long-bone proportions (speed proxy), and estimated body mass. Results suggest that Paralophiodon and Palaeotherium magnum resemble Neotropical tapirs in humeral morphology and LARs. Palaeotheres demonstrate extensive forelimb shape disparity. Despite previous assessments, metacarpal shape analyzes do not support a strong morphological similarity between palaeotheres and tapirs, with Tapirus pinchaque representing the closest analogue for Eocene European equoid manus morphology. Our analyses suggest lophiodontids were not capable of moving as swiftly as tapirs due to greater loading over the manus. We conclude that the variation within modern tapir forelimb morphology confounds the assignment of one living analogue within Tapirus for extinct European equoids, whereas tapirs adapted for greater loading over the manus (e.g., T. bairdii, T. indicus) represent viable locomotor analogues for lophiodontids. This study represents a valuable first step toward locomotor simulation and behavioral inference for both hippomorph and tapiromorph perissodactyls in Eocene faunal communities

    Interspecific variation in the tetradactyl manus of modern tapirs (**Perissodactyla: Tapirus**) exposed using geometric morphometrics

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    peer reviewedThe distal forelimb (autopodium) of quadrupedal mammals is a key morphological unit involved in locomotion, body support, and interaction with the substrate. The manus of the tapir (Perissodactyla: Tapirus) is unique within modern perissodactyls, as it retains the plesiomorphic tetradactyl (four-toed) condition also exhibited by basal equids and rhinoceroses. Tapirs are known to exhibit anatomical mesaxonic symmetry in the manus, although interspecific differences and biomechanical mesaxony have yet to be rigorously tested. Here, we investigate variation in the manus morphology of four modern tapir species (Tapirus indicus, Tapirus bairdii, Tapirus pinchaque, and Tapirus terrestris) using a geometric morphometric approach. Autopodial bones were laser scanned to capture surface shape and morphology was quantified using 3D-landmark analysis. Landmarks were aligned using Generalised Procrustes Analysis, with discriminant function and partial least square analyses performed on aligned coordinate data to identify features that significantly separate tapir species. Overall, our results support the previously held hypothesis that T. indicus is morphologically separate from neotropical tapirs; however, previous conclusions regarding function from morphological differences are shown to require reassessment. We find evidence indicating that T. bairdii exhibits reduced reliance on the lateral fifth digit compared to other tapirs. Morphometric assessment of the metacarpophalangeal joint and the morphology of the distal facets of the lunate lend evidence toward high loading on the lateral digits of both the large T. indicus (large body mass) and the small, long limbed T. pinchaque (ground impact). Our results support other recent studies on T. pinchaque, suggesting subtle but important adaptations to a compliant but inclined habitat. In conclusion, we demonstrate further evidence that the modern tapir forelimb is a variable locomotor unit with a range of interspecific features tailored to habitual and biomechanical needs of each species

    The most complete skull of Brachyodus onoideus (Anthracotheriidae), Liege University collections

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    peer reviewedThe University of Liège Geology Department curates a relatively complete cranium and mandible of the Miocene anthracothere Brachyodus onoideus, lacking only the premaxillae, parts of the maxillae and pterygoids. Although comparable in dimensions, the fossils probably represent two individuals. The specimens resolve several issues that have plagued interpretations of the genus regarding the resting posture of the head on the vertebral column, the hafting of the neurocranium onto the splanchnocranium and the lower dental formula. The provenance is unknown, but sandy sediment adhering to the skull and the pale, mottled colouration of the bones and teeth suggest that it may have been collected from the Sables de l’Orléanais, France. The dimensions and morphology of the mandible accord with the holotype of Brachyodus onoideus from Neuville-aux-Bois in the same sedimentary deposits; based on this similarity and metric comparisons of upper and lower dentition, we assign the Liège specimen to this species. The life appearance and behaviour of Brachyodus are discussed, with a preliminary description, a high-resolution 3D rendering, and stereo images of the specimens provided to make them available to the scientific community
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