The subtalar joint: A complex mechanism.
Ontology highlight
ABSTRACT:
SUBMITTER: Krahenbuhl N
PROVIDER: S-EPMC5549175 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:BackgroundThe purpose of this study was to quantify the articular surfaces of the naviculocuneiform (NC) joint to help clinicians better understand common pathologies observed such as navicular stress fractures and arthrodesis nonunions.MethodsTwenty cadaver NC joints were dissected and the articular cartilage of the navicular, medial, middle, and lateral cuneiforms were quantified by calibrated digital imaging software. Statistical analysis included calculating the mean cartilage surface area dimensions of the distal navicular and proximal cuneiform bones. Length measurements on the navicular were obtained to estimate the geographic location of the interfacet ridges. Lastly, all facets of the articular surfaces were described in regard to the shape and location of cartilaginous or fibrous components. Results were compared using Student t tests.ResultsNavicular cartilage was present over 75.4% of the surface area of the proximal NC joint, compared with 72.6% of combined cuneiform cartilage distally. The mean height of the deepest (dorsal-plantar) measurement of navicular articular cartilage was 18 ± 3 mm. The mean heights of the distal medial, middle, and lateral cuneiform articular facets were 15 ± 1 mm, 17 ± 2 mm, and 15 ± 2 mm, respectively.ConclusionThere is significant variation among the articular surfaces of the NC joint. Additionally, the central third of the navicular was calculated to lie in the inter-facet ridge between the medial and middle articular facets of the navicular.Clinical relevanceSurgeons may consider this study data when performing joint preparation for NC arthrodesis as cartilage was present to a mean depth of 18 mm at the NC joint. Additionally, this study demonstrates that the central third of the navicular, where most navicular stress fractures occur, lies in the interfacet ridge between the medial and middle articular facets of the navicular.
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Project description:A polygenic model of inheritance, whereby hundreds or thousands of weakly associated variants contribute to a trait's heritability, has been proposed to underlie the genetic architecture of complex traits. However, relatively few genetic variants have been positively identified so far and they collectively explain only a small fraction of the predicted heritability. We hypothesized that joint association of multiple weakly associated variants over large chromosomal regions contributes to complex traits variance. Confirmation of such regional associations can help identify new loci and lead to a better understanding of known ones. To test this hypothesis, we first characterized the ability of commonly used genetic association models to identify large region joint associations. Through theoretical derivation and simulation, we showed that multivariate linear models where multiple SNPs are included as independent predictors have the most favorable association profile. Based on these results, we tested for large region association with height in 3,740 European participants from the Health and Retirement Study (HRS) study. Adjusting for SNPs with known association with height, we demonstrated clustering of weak associations (p = 2x10-4) in regions extending up to 433.0 Kb from known height loci. The contribution of regional associations to phenotypic variance was estimated at 0.172 (95% CI 0.063-0.279; p < 0.001), which compared favorably to 0.129 explained by known height variants. Conversely, we showed that suggestively associated regions are enriched for known height loci. To extend our findings to other traits, we also tested BMI, HDLc and CRP for large region associations, with consistent results for CRP. Our results demonstrate the presence of large region joint associations and suggest these can be used to pinpoint weakly associated SNPs.
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Project description:MotivationWith the development of chromatin conformation capture technology and its high-throughput derivative Hi-C sequencing, studies of the three-dimensional interactome of the genome that involve multiple Hi-C datasets are becoming available. To account for the technology-driven biases unique to each dataset, there is a distinct need for methods to jointly normalize multiple Hi-C datasets. Previous attempts at removing biases from Hi-C data have made use of techniques which normalize individual Hi-C datasets, or, at best, jointly normalize two datasets.ResultsHere, we present multiHiCcompare, a cyclic loess regression-based joint normalization technique for removing biases across multiple Hi-C datasets. In contrast to other normalization techniques, it properly handles the Hi-C-specific decay of chromatin interaction frequencies with the increasing distance between interacting regions. multiHiCcompare uses the general linear model framework for comparative analysis of multiple Hi-C datasets, adapted for the Hi-C-specific decay of chromatin interaction frequencies. multiHiCcompare outperforms other methods when detecting a priori known chromatin interaction differences from jointly normalized datasets. Applied to the analysis of auxin-treated versus untreated experiments, and CTCF depletion experiments, multiHiCcompare was able to recover the expected epigenetic and gene expression signatures of loss of chromatin interactions and reveal novel insights.Availability and implementationmultiHiCcompare is freely available on GitHub and as a Bioconductor R package https://bioconductor.org/packages/multiHiCcompare.Supplementary informationSupplementary data are available at Bioinformatics online.
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Project description:A functional joint requires integration of multiple tissues: the apposing skeletal elements should form an interlocking structure, and muscles should insert into skeletal tissues via tendons across the joint. Whereas newts can regenerate functional joints after amputation, Xenopus laevis regenerates a cartilaginous rod without joints, a "spike." Previously we reported that the reintegration mechanism between the remaining and regenerated tissues has a significant effect on regenerating joint morphogenesis during elbow joint regeneration in newt. Based on this insight into the importance of reintegration, we amputated frogs' limbs at the elbow joint and found that frogs could regenerate a functional elbow joint between the remaining tissues and regenerated spike. During regeneration, the regenerating cartilage was partially connected to the remaining articular cartilage to reform the interlocking structure of the elbow joint at the proximal end of the spike. Furthermore, the muscles of the remaining part inserted into the regenerated spike cartilage via tendons. This study might open up an avenue for analyzing molecular and cellular mechanisms of joint regeneration using Xenopus.
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Project description:BackgroundTuberous sclerosis complex (TSC) is a genetic multisystem disorder that affects the brain in almost every patient. It is caused by a mutation in the TSC1 or TSC2 genes, which regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The most frequent neurological symptoms are seizures, which occur in up to 90% of patients and often are intractable, followed by autism spectrum disorders, intellectual disability, attention deficit-hyperactivity disorder, and sleep problems. Conventional treatment has frequently proven insufficient for neurological and behavioral symptoms, particularly seizure control. This review focuses on the role of TSC/mTOR in neuronal development and network formation and recent mechanism-based treatment approaches.MethodsWe performed a literature review to identify ongoing therapeutic challenges and novel strategies.ResultsTo achieve a better quality of life for many patients, current therapy approaches are directed at restoring dysregulated mTOR signaling. Studies in animals have provided insight into aberrant neuronal network formation caused by constitutive activation of the mTOR pathway, and initial studies in TSC patients using magnetic resonance diffusion tensor imaging and electroencephalogram support a model of impaired neuronal connectivity in TSC. Rapamycin, an mTOR inhibitor, has been used successfully in Tsc-deficient mice to prevent and treat seizures and behavioral abnormalities. There is recent evidence in humans of improved seizure control with mTOR inhibitors.ConclusionsCurrent research provides insight into aberrant neuronal connectivity in TSC and the role of mTOR inhibitors as a promising therapeutic approach.
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Project description:The evolution of cooperation is a paradox because natural selection should favor exploitative individuals that avoid paying their fair share of any costs. Such conflict between the self-interests of cooperating individuals often results in the evolution of complex, opponent-specific, social strategies and counterstrategies. However, the genetic and biological mechanisms underlying complex social strategies, and therefore the evolution of cooperative behavior, are largely unknown. To address this dearth of empirical data, we combine mathematical modeling, molecular genetic, and developmental approaches to test whether variation in the production of and response to social signals is sufficient to generate the complex partner-specific social success seen in the social amoeba Dictyostelium discoideum. Firstly, we find that the simple model of production of and response to social signals can generate the sort of apparent complex changes in social behavior seen in this system, without the need for partner recognition. Secondly, measurements of signal production and response in a mutant with a change in a single gene that leads to a shift in social behavior provide support for this model. Finally, these simple measurements of social signaling can also explain complex patterns of variation in social behavior generated by the natural genetic diversity found in isolates collected from the wild. Our studies therefore demonstrate a novel and elegantly simple underlying mechanistic basis for natural variation in complex social strategies in D. discoideum. More generally, they suggest that simple rules governing interactions between individuals can be sufficient to generate a diverse array of outcomes that appear complex and unpredictable when those rules are unknown.
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Project description:The temporomandibular joint (TMJ), which is biomechanically related to dental occlusion, is often insulted by osteoarthritis (OA). This study was conducted to clarify the relationship between Indian hedgehog (Ihh) and parathyroid hormone receptor 1 (PTH1R) signaling in modulating the enhanced chondrocyte terminal differentiation in dental stimulated TMJ osteoarthritic cartilage. A gain- and loss-of-function strategy was used in an in vitro model in which fluid flow shear stress (FFSS) was applied, and in an in vivo model in which the unilateral anterior cross-bite (UAC) stimulation was adopted. Ihh and PTH1R signaling was modulated through treating the isolated chondrocytes with inhibitor/activator and via deleting Smoothened (Smo) and/or Pth1r genes in mice with the promoter gene of type 2 collagen (Col2-CreER) in the tamoxifen-inducible pattern. We found that both FFSS and UAC stimulation promoted the deep zone chondrocytes to undergo terminal differentiation, while cells in the superficial zone were robust. We demonstrated that the terminal differentiation process in deep zone chondrocytes promoted by FFSS and UAC was mediated by the enhanced Ihh signaling and declined PTH1R expression. The FFSS-promoted terminal differentiation was suppressed by administration of the Ihh inhibitor or PTH1R activator. The UAC-promoted chondrocytes terminal differentiation and OA-like lesions were rescued in Smo knockout, but were enhanced in Pth1r knockout mice. Importantly, the relieving effect of Smo knockout mice was attenuated when Pth1r knockout was also applied. Our data suggest a chondrocyte protective effect of suppressing Ihh signaling in TMJ OA cartilage which is dependent on PTH1R signaling.
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Project description:BackgroundPrevious research shows kinematic and kinetic coupling between the metatarsophalangeal (MTP) and midtarsal joints during gait. Studying the effects of MTP position as well as foot structure on this coupling may help determine to what extent foot coupling during dynamic and active movement is due to the windlass mechanism. This study's purpose was to investigate the kinematic and kinetic foot coupling during controlled passive, active, and dynamic movements.MethodsAfter arch height and flexibility were measured, participants performed four conditions: Seated Passive MTP Extension, Seated Active MTP Extension, Standing Passive MTP Extension, and Standing Active MTP Extension. Next, participants performed three heel raise conditions that manipulated the starting position of the MTP joint: Neutral, Toe Extension, and Toe Flexion. A multisegment foot model was created in Visual 3D and used to calculate ankle, midtarsal, and MTP joint kinematics and kinetics.ResultsKinematic coupling (ratio of midtarsal to MTP angular displacement) was approximately six times greater in Neutral heel raises compared to Seated Passive MTP Extension, suggesting that the windlass only plays a small kinematic role in dynamic tasks. As the starting position of the MTP joint became increasingly extended during heel raises, the amount of negative work at the MTP joint and positive work at the midtarsal joint increased proportionally, while distal-to-hindfoot work remained unchanged. Correlations suggest that there is not a strong relationship between static arch height/flexibility and kinematic foot coupling.ConclusionsOur results show that there is kinematic and kinetic coupling within the distal foot, but this coupling is attributed only in small measure to the windlass mechanism. Additional sources of coupling include foot muscles and elastic energy storage and return within ligaments and tendons. Furthermore, our results suggest that the plantar aponeurosis does not function as a rigid cable but likely has extensibility that affects the effectiveness of the windlass mechanism. Arch structure did not affect foot coupling, suggesting that static arch height or arch flexibility alone may not be adequate predictors of dynamic foot function.
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Project description:Complex network growth across diverse fields of science is hypothesized to be driven in the main by a combination of preferential attachment and node fitness processes. For measuring the respective influences of these processes, previous approaches make strong and untested assumptions on the functional forms of either the preferential attachment function or fitness function or both. We introduce a Bayesian statistical method called PAFit to estimate preferential attachment and node fitness without imposing such functional constraints that works by maximizing a log-likelihood function with suitably added regularization terms. We use PAFit to investigate the interplay between preferential attachment and node fitness processes in a Facebook wall-post network. While we uncover evidence for both preferential attachment and node fitness, thus validating the hypothesis that these processes together drive complex network evolution, we also find that node fitness plays the bigger role in determining the degree of a node. This is the first validation of its kind on real-world network data. But surprisingly the rate of preferential attachment is found to deviate from the conventional log-linear form when node fitness is taken into account. The proposed method is implemented in the R package PAFit.
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Project description:In this study, a total of 12,059 differential genes and 131 differential metabolites were obtained, and they were mainly concentrated in signal transduction and phenylpropane metabolic pathways. In the process of low temperature signal transduction, the hosta is mainly through the ion channels on the three cell membranes of COLD, CNGCs and CRLK to transmit Ca2+ inside and outside the cell to sense temperature changes, and stimulate SCRM to combine with DREB through the MAPK signal pathway and Ca2+ signal sensors such as CBL. Strengthen the low temperature resistance of the purple calyx hosta. The phenylpropane metabolic pathway and the flavonoid metabolism pathway are the main metabolic pathways for the hosta to resist low temperature stress. The hosta protects itself from low temperature damage by increasing the content of Genistein, Scopolentin and Scopolin. It is speculated that the hosta also adjusts Sinapyl alcohole and Coniferyl alcohol content ratio can change the morphological structure of cell wall and enhance low temperature resistance.
2021-10-24 | GSE168396 | GEO