604 research outputs found
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease. The spectrum of clinical manifestations in POLG-related mitochondrial disease is variable,2 with disease onset ranging from adulthood-onset dominant or recessive progressive external ophthalmoplegia (chronic progressive external ophthalmoplegia), ataxia-neuropathy spectrum, myoclonic epilepsy, myopathy, and sensory ataxia to childhood-onset Alpers syndrome, which is characterized by intractable seizures, psychomotor regression, and hepatic impairment. Epilepsy is a poor prognostic factor in POLG mutations,3 and the onset of epilepsy often clusters in childhood (<5 years) and teenage.4 However, late-onset epileptic encephalopathy is uncommon.4,5 Herein, we describe a patient who died of de novo, late-onset refractory status epilepticus with the identification of 2 novel variants in the POLG gene
Beef empire carcass merit days index system
Kansas State University, in cooperation with the Beef Empire Days committee, developed a new beef carcass index system for 1991, incorporating yield and quality traits as indicators of carcass merit. Development of the system considered current industry and consumer demands in a critical evaluation of final carcass ranking. The index starts from 100 points and applies positive and negative adjustments for hot carcass weight; ribeye area; adjusted 12th rib fat thickness; percent kidney, pelvic, and heart fat; and quality grade. The index was first used in 1991
Handwritten digit recognition by bio-inspired hierarchical networks
The human brain processes information showing learning and prediction
abilities but the underlying neuronal mechanisms still remain unknown.
Recently, many studies prove that neuronal networks are able of both
generalizations and associations of sensory inputs. In this paper, following a
set of neurophysiological evidences, we propose a learning framework with a
strong biological plausibility that mimics prominent functions of cortical
circuitries. We developed the Inductive Conceptual Network (ICN), that is a
hierarchical bio-inspired network, able to learn invariant patterns by
Variable-order Markov Models implemented in its nodes. The outputs of the
top-most node of ICN hierarchy, representing the highest input generalization,
allow for automatic classification of inputs. We found that the ICN clusterized
MNIST images with an error of 5.73% and USPS images with an error of 12.56%
Genotype by Environment Interaction for Holstein Milk Yield in Colombia, Mexico, and Puerto Rico
Components of (co)variance and genetic parameters were estimated by REML procedures from first lactation mature equivalent Holstein milk records from 54,604 Colombian, Mexican, and Puerto Rican cows and 198,079 US cows. The objective was to determine the cause of heterogeneous daughter response to sire selection for milk yield between the regions. Data from Latin America were partitioned by country and by herd-year SD class for milk to obtain five joint analyses between the US and Latin America, low herd-year SD, high herd year SD, Colombia, and Mexico. Sire and residual variances for milk were 41 and 29% smaller in Latin America than in the US, 47 and 58% smaller for low than for high herd-year SD, and 31 and 49% smaller for Colombia than for Mexico. Resultant heritabilities ranged from .20 to .29. Genetic correlations for milk yield between the US and Latin America, low and high herd-year SD, Colombia, and Mexico were .91, .82, .89, .78, and .90. Expected correlated responses for milk in Latin America, low and high herd-year SD, Colombia, and Mexico were 70, 53, 79.56, and 78% of the direct response in the US. The scaling effects of heterogeneous variance resulted in smaller daughter milk responses in Latin America compared with the US even when herd-year SD was similar
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Experience with stress corrosion cracking and materials compatibility at the High Flux Beam Reactor
High-temperature weak ferromagnetism on the verge of a metallic state: Impact of dilute Sr-doping on BaIrO3
The 5d-electron based BaIrO3 is a nonmetallic weak ferromagnet with a Curie
temperature at Tc=175 K. Its largely extended orbitals generate strong
electron-lattice coupling, and magnetism and electronic structure are thus
critically linked to the lattice degree of freedom. Here we report results of
our transport and magnetic study on slightly Sr doped BaIrO3. It is found that
dilute Sr-doping drastically suppresses Tc, and instantaneously leads to a
nonmetal-metal transition at high temperatures. All results highlight the
instability of the ground state and the subtle relation between magnetic
ordering and electron mobility. It is clear that BaIrO3 along with very few
other systems represents a class of materials where the magnetic and transport
properties can effectively be tuned by slight alterations in lattice
parameters
Hyaluronan fragments induce IFNβ via a novel TLR4-TRIF-TBK1-IRF3- dependent pathway
Background: The extracellular matrix plays a critical role in insuring tissue integrity and water homeostasis. However, breakdown products of the extracellular matrix have emerged as endogenous danger signals, designed to rapidly activate the immune system against a potential pathogen breach. Type I interferons play a critical role in the immune response against viral infections. In the lungs, hylauronan (HA) exists as a high molecular weight, biologically inert extracellular matrix component that is critical for maintaining lung function. When lung tissue is injured, HA is broken down into lower molecular weight fragments that alert the immune system to the breach in tissue integrity by activating innate immune responses. HA fragments are known to induce inflammatory gene expression via TLR-MyD88-dependent pathways. Methods. Primary peritoneal macrophages from C57BL/6 wild type, TLR4 null, TLR3 null, MyD88 null, and TRIF null mice as well as alveolar and peritoneal macrophage cell lines were stimulated with HA fragments and cytokine production was assessed by rt-PCR and ELISA. Western blot analysis for IRF3 was preformed on cell lysates from macrophages stimulate with HA fragments. Results: We demonstrate for the first time that IFNβ is induced in murine macrophages by HA fragments. We also show that HA fragments induce IFNβ using a novel pathway independent of MyD88 but dependent on TLR4 via TRIF and IRF-3. Conclusions: Overall our findings reveal a novel signaling pathway by which hyaluronan can modulate inflammation and demonstrate the ability of hyaluronan fragments to induce the expression of type I interferons in response to tissue injury even in the absence of viral infection. This is independent of the pathway of the TLR2-MyD88 used by these matrix fragments to induce inflammatory chemokines. Thus, LMW HA may be modifying the inflammatory milieu simultaneously via several pathways
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