61 research outputs found
Ecological succession of a Jurassic shallow-water ichthyosaur fall.
After the discovery of whale fall communities in modern oceans, it has been hypothesized that during the Mesozoic the carcasses of marine reptiles created similar habitats supporting long-lived and specialized animal communities. Here, we report a fully documented ichthyosaur fall community, from a Late Jurassic shelf setting, and reconstruct the ecological succession of its micro- and macrofauna. The early 'mobile-scavenger' and 'enrichment-opportunist' stages were not succeeded by a 'sulphophilic stage' characterized by chemosynthetic molluscs, but instead the bones were colonized by microbial mats that attracted echinoids and other mat-grazing invertebrates. Abundant cemented suspension feeders indicate a well-developed 'reef stage' with prolonged exposure and colonization of the bones prior to final burial, unlike in modern whale falls where organisms such as the ubiquitous bone-eating worm Osedax rapidly destroy the skeleton. Shallow-water ichthyosaur falls thus fulfilled similar ecological roles to shallow whale falls, and did not support specialized chemosynthetic communities
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplasia in three unrelated families with variable skeletal manifestations. The six affected individuals from three families had severe short stature with extreme shortening of forelimbs, short long-bones, and metatarsals, and brachydactyly (family 1); mild short stature, platyspondyly, and metaphyseal irregularities (family 2); or a prenatally lethal skeletal dysplasia with kidney features suggestive of a ciliopathy (family 3). Genetic studies by whole genome, whole exome, and ciliome panel sequencing identified in all affected individuals biallelic missense variants in KIF24, which encodes a kinesin family member controlling ciliogenesis. In families 1 and 3, with the more severe phenotype, the affected subjects harbored homozygous variants (c.1457A>G; p.(Ile486Val) and c.1565A>G; p.(Asn522Ser), respectively) in the motor domain which plays a crucial role in KIF24 function. In family 2, compound heterozygous variants (c.1697C>T; p.(Ser566Phe)/c.1811C>T; p.(Thr604Met)) were found C-terminal to the motor domain, in agreement with a genotype-phenotype correlation. In vitro experiments performed on amnioblasts of one affected fetus from family 3 showed that primary cilia assembly was severely impaired, and that cytokinesis was also affected. In conclusion, our study describes novel forms of skeletal dysplasia associated with biallelic variants in KIF24. To our knowledge this is the first report implicating KIF24 variants as the cause of a skeletal dysplasia, thereby extending the genetic heterogeneity and the phenotypic spectrum of rare bone disorders and underscoring the wide range of monogenetic skeletal ciliopathies. (c) 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).Peer reviewe
Pediatric DXA: clinical applications
Normal bone mineral accrual requires adequate dietary intake of calcium, vitamin D and other nutrients; hepatic and renal activation of vitamin D; normal hormone levels (thyroid, parathyroid, reproductive and growth hormones); and neuromuscular functioning with sufficient stress upon the skeleton to induce bone deposition. The presence of genetic or acquired diseases and the therapies that are used to treat them can also impact bone health. Since the introduction of clinical DXA in pediatrics in the early 1990s, there has been considerable investigation into the causes of low bone mineral density (BMD) in children. Pediatricians have also become aware of the role adequate bone mass accrual in childhood has in preventing osteoporotic fractures in late adulthood. Additionally, the availability of medications to improve BMD has increased with the development of bisphosphonates. These factors have led to the increased utilization of DXA in pediatrics. This review summarizes much of the previous research regarding BMD in children and is meant to assist radiologists and clinicians with DXA utilization and interpretation
Superior neurologic recovery after 15 minutes of normothermic cardiac arrest using an extracorporeal life support system for optimized blood pressure and flow
The design of a double-tuned two-port surface resonator and its application to in vivo Hydrogen- and Sodium-MRI
MALIGNANT CHANGES IN PROCIDENTIA. The Incidence During the Years 1949-54 at Addenbrooke's Hospital, Cambridge
The Effect of Growth Hormone (GH) Treatment on Forearm Muscle in GH-Deficient Children: Evidence Based on Peripheral Quantitative Computed Tomography Measurements
Estimation of adult age‐at‐death from entheseal robusticity: A test using an identified Italian skeletal collection
Objectives: The present study tests the effectiveness of entheseal robusticity (ER) as
a potential predictor of adult age-at-death by applying multiple regression models to
a large contemporary identified skeletal sample.
Materials and Methods: ER was recorded for 23 bilateral postcranial entheses on
481 adult individuals (271 females and 210 males) from the Frassetto identified skeletal
collection of Sassari (Italy), following the method of Mariotti et al. 2007. ER
scores were used as predictors in multiple regression analyses with age as the dependent
variable; the performance of the resulting models was tested through standard
error of estimate, the correlation coefficient between predicted and documented
age, and the percentage of correctly classified individuals.
Results: ER show a higher correlation with age in females, resulting in more accurate
estimates when compared with those obtained for males. Age-at-death is overestimated
for male individuals under 45 years old and underestimated for older individuals.
Regression models including a reduced set of ER sites result in better
estimates compared with those using the complete set of variables.
Discussion: Results suggest the potential usefulness of ER for the estimation of age,
especially for female skeletal remains. If used with caution, ER may be a valid complement
to existing methods for the reconstruction of the biological profile of skeletal
remains of archaeological and forensic interest
High resolution spectroscopy of six SOCl2 isotopologues from the microwave to the far-infrared
Despite its potential role as an atmospheric pollutant, thionyl chloride, SOCl2, remains poorly characterized in the gas phase. In this study, the pure rotational and ro-vibrational spectra of six isotopologues of this molecule, all detected in natural abundance, have been extensively studied from the cm-wave band to the far-infrared region by means of three complementary techniques: chirped-pulse Fourier transform microwave spectroscopy, sub-millimeter-wave spectroscopy using frequency multiplier chain, and synchrotron-based far-infrared spectroscopy. Owing to the complex line pattern which results from two nuclei with non-zero spins, new, high-level quantum-chemical calculations of the hyperfine structure played a crucial role in the spectroscopic analysis. From the combined experimental and theoretical work, an accurate semi-experimental equilibrium structure (rSEe ) of SOCl2 has been derived. With the present data, spectroscopy-based methods can now be applied with confidence to detect and monitor this species, either by remote sensing or in situ
Bone quality assessed by phalangeal quantitative ultrasonography in children and adolescents with isolated idiopathic growth hormone deficiency
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