gebhart/patrepeval huggingface dataset:
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy (2019)

Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene <i>MSTO1</i> (Misato 1) has been implicated in mitochondrial myopathy and ataxia. Here we report on a 30-yr-old man presenting with a maternally inherited NM_018116.3:c.651C>G, p.F217L missense variant as well as a paternally inherited arr[GRCh37] 1q22(155581773_155706887) × 1 deletion encompassing exons 7-14 of <i>MSTO1</i> His phenotype included muscle weakness, hypotonia, early motor developmental delay, pectus excavatum, and scoliosis. Testing revealed elevated plasma creatine kinase, and electromyogram results were consistent with longstanding generalized myopathy. These phenotypic features overlap well with previously reported patients harboring biallelic <i>MSTO1</i> variants. Additionally, our patient presents with dysphagia and restrictive lung disease, not previously reported for <i>MSTO1</i>-associated disorders. The majority of patients with disease-associated variants in <i>MSTO1</i> present with biallelic variants suggesting autosomal recessive inheritance; however, one family has been reported with a single variant and presumed autosomal dominant inheritance. The pattern of inheritance we observed is consistent with the majority of previous reports suggesting an autosomal recessive disorder. We add to our knowledge of the syndrome caused by variants in <i>MSTO1</i> and provide additional evidence supporting autosomal recessive inheritance. We also describe phenotypic features not reported in previous cases, although further research is needed to confirm they are associated with defects in MSTO1.
Investigation on microstructural and mechanical properties of B4C–aluminum matrix composites prepared by microwave sintering (2015)

B4C reinforced aluminum composites were fabricated by microwave heating of the mixture of B4C (10, 15 and 20 wt%) and aluminum powders at 650, 750, 850 and 950 °C. The effect of different amounts of B4C on the microstructure and mechanical properties of aluminum matrix was examined. The maximum bending (238 ± 10 MPa) and compressive strength (330 ± 10 MPa) values were measured for composites sintered at 950 and 750 °C, respectively. The maximum hardness (112 Vickers) was measured for Al–20 wt% B4C composite sintered at 850 °C. XRD investigations showed the decomposition of boron carbide and also the formation of Al3BC by heating the composites at 850 °C. SEM micrographs showed uniform distribution of reinforcement particles in Al matrix.
The epidemiology of Schistosoma spindale Montgomery, 1906 in cattle in Sri Lanka (1991)

During 1988 and 1989, the mesenteric veins of 901 cattle were examined for the presence of schistosomes at the Kandy slaughterhouse (Sri Lanka). The overall prevalence of infection was 31.2%. Animals younger than 2 years were less infected (21.3%) than those older than 5 years (47.9%). Based on the number of paired worms counted, three intensities of infection were recognized: low (1-20 pairs), moderate (21-100 pairs) and heavy (greater than 100 pairs). Intensities increased with the age of the animals but remained low (average 10 worm pairs). The worm burden increased by approximately 20% for each step in age group. The number of miracidia/100 g faeces was measured in 85 animals of all age groups and intensities of infection; 77% of the samples contained less than 100 miracidia. Miracidia counts decreased with age; moderately and heavily infected animals in each age group had the highest and the lowest counts, respectively. This may be due to a host immune response. The results raise questions on the sensitivity of faecal egg counts as a diagnostic method for visceral schistosomiasis in cattle.
Identification of Novel Carbocyclic Pyrimidine Cyclic Dinucleotide STING Agonists for Antitumor Immunotherapy Using Systemic Intravenous Route (2021)

Stimulator of Interferon Genes (STING) plays an important role in innate immunity by inducing type I interferon production upon infection with intracellular pathogens. STING activation can promote increased T-cell activation and inflammation in the tumor microenvironment, resulting in antitumor immunity. Natural and synthetic cyclic dinucleotides (CDNs) are known to activate STING, and several synthetic CDN molecules are being investigated in the clinic using an intratumoral administration route. Here, we describe the identification of STING agonist <b>15a</b>, a cyclic dinucleotide structurally diversified from natural ligands with optimized properties for systemic intravenous (iv) administration. Our studies have shown that STING activation by <b>15a</b> leads to an acute innate immune response as measured by cytokine secretion and adaptive immune response via activation of CD8+ cytotoxic T-cells, which ultimately provides robust antitumor efficacy.
Multiresolution surface parameter estimation for range images (2002)

This paper proposes a multiresolution surface parameter estimation method for range images. Based on the robust estimation, it approximates a patch to a planar or quadric surface in the locally adaptive window. Selection of resolution is made pixelwise by comparing a locally computed homogeneity measure with the global threshold calculated by the distribution of the approximation error. Experimental results show that the proposed multiresolution method well preserves step and roof edges and is robust to noise compared with the conventional parameter estimation methods.
Hypertension and Atherosclerosis (1987)

Summary: High blood pressure (BP) is associated with increased risk of vascular disease, including myocardial infarction and stroke. Since drugs that lower BP will reduce the risk of those complications of hypertension that are due to high pressure (strokes due to small-vessel disease, including lacunar infarction and intracerebral hemmorhage due to rupture of microaneurysms, heart failure, and renal failure), it has been assumed that such drugs would also reduce the risk of myocardial infarction due to atherosclerosis. However, in addition to hypertension, many other factors are involved in the atherosclerotic process including blood lipids such as cholesterol, blood platelets, and arterial flow disturbances such as turbulence and vortex formation. Some drugs that lower BP have unwanted effects on blood lipids and arterial flow patterns, which are thought to offset the benefit of BP reduction, whereas other drugs have beneficial effects on such factors. Ames has calculated that the adverse effects of antihypertensive drugs on lipids are enough to completely offset the benefit of treating mild hypertension. We have shown that antihypertensive drugs have different effects on blood velocity, and that these effects are associated with differences in the effects of drugs on arterial flow disturbances at the site of carotid stenosis in man, such that propranolol reduced, and hydralazine increased, the occurrence of abnormal high-velocity flow patterns associated with turbulence and vortex formation. In cholesterol-fed hypertensive rabbits (one-kidney Goldblatt), propranolol was more effective than hydralazine in preventing the occurrence of aortic atherosclerosis, even though hydralazine lowered blood pressure more effectively. It is suggested that it is time to shift from the ruling paradigm, which dictates that pressure is everything, and to begin to take account of other effects of antihypertensive drugs that may influence atherosclerosis.
PUCC Activities on Overlay Networking Protocols and Metadata for Controlling and Managing Home Networks and Appliances (2013)

Many researches and standardizations have been done for controlling and managing home networks and appliances during past ten years. Such activities and technologies include the Universal Plug and Play (UPnP)/Digital Living Network Alliance (DLNA), the Energy Conservation and Homecare Network (ECHONET), and the Continua Health Alliance. Such technologies control and manage specific home appliances. However, there have been no technologies and standards for controlling and managing heterogeneous home appliances in a consolidated manner. In addition, there are no standards that fully define technologies for controlling and managing home appliances outside home from mobile phones and cloud servers. In addition to the Internet, new networks such as home networks and sensor networks are emerging. Overlay networking is one of the most suitable technologies for communications among home appliances, home gateways (HGWs), mobile phones, and cloud servers over such heterogeneous networks. Metadata is also an important technology for describing various home appliances in a consistent manner. We have designed overlay networking protocols and metadata for controlling and managing heterogeneous home appliances. Peer-to-Peer Universal Computing Consortium (PUCC) was established to deploy our overlay networking and metadata technologies toward de facto standardization. We explain PUCC overlay networking technologies, and their application to home appliances control from a mobile phone, and describe PUCC activities.
Loss of pod strings in common bean is associated with gene duplication, retrotransposon insertion and overexpression of PvIND (2022)

Fruit development has been central in the evolution and domestication of flowering plants. In common bean (Phaseolus vulgaris), the principal global grain legume staple, two main production categories are distinguished by fibre deposition in pods: dry beans, with fibrous, stringy pods; and stringless snap/green beans, with reduced fibre deposition, which frequently revert to the ancestral stringy state. Here, we identify genetic and developmental patterns associated with pod fibre deposition. Transcriptional, anatomical, epigenetic and genetic regulation of pod strings were explored through RNA-seq, RT-qPCR, fluorescence microscopy, bisulfite sequencing and whole-genome sequencing. Overexpression of the INDEHISCENT ('PvIND') orthologue was observed in stringless types compared with isogenic stringy lines, associated with overspecification of weak dehiscence-zone cells throughout the pod vascular sheath. No differences in DNA methylation were correlated with this phenotype. Nonstringy varieties showed a tandemly direct duplicated PvIND and a Ty1-copia retrotransposon inserted between the two repeats. These sequence features are lost during pod reversion and are predictive of pod phenotype in diverse materials, supporting their role in PvIND overexpression and reversible string phenotype. Our results give insight into reversible gain-of-function mutations and possible genetic solutions to the reversion problem, of considerable economic value for green bean production.
Pruning Deep Neural Networks with L_0-Constrained Optimization (2020)

Deep neural networks (DNNs) give state-of-the-art accuracy in many tasks, but they can require large amounts of memory storage, energy consumption, and long inference times. Modern DNNs can have hundreds of million parameters, which make it difficult for DNNs to be deployed in some applications with low-resource environments. Pruning redundant connections without sacrificing accuracy is one of popular approaches to overcome these limitations. We propose two l0-constrained optimization models for pruning deep neural networks layer-by-layer. The first model is devoted to a general activation function, while the second one is specifically for a ReLU. We introduce an efficient cutting plane algorithm to solve the latter to optimality. Our experiments show that the proposed approach achieves competitive compression rates over several state-of-the-art baseline methods.
A novel MR angiography technique: SPEED acquisition using half‐Fourier RARE (1998)

A novel MR angiography (MRA) method, swap phase encode extended data (SPEED), was developed. Two one-shot images with the phase-encode directions swapped were collected within a single breath-hold period and processed with a maximum intensity projection (MIP) to obtain an image. In this study, a long echo train two-dimensional rapid acquisition with relaxation enhancement (RARE) sequence with half-Fourier (half-RARE) was used to obtain the pulmonary MRA images. The MIP image obtained using the SPEED technique presented promising results for pulmonary vessels.
A unified approach to acoustical reflection imaging. II: The inverse problem (1993)

Using the forward matrix model, as derived in part I [A. J. Berkhout, J. Acoust. Soc. Am. 93, xxx(1993)], it is shown that the first and main part of numerical acoustic imaging consists of a wave field extrapolation process by double matrix inversion. Physically, the wave field extrapolation process means that the downward propagation effects and the upward propagation effects are eliminated from the measurements. Next, the reflection information is extracted from the wave field extrapolation result. Optionally, the reflection information is translated to discipline-oriented material parameters by some data fitting process. Double focusing, i.e., focusing in emission and focusing in detection, is closely related to the above numerical imaging process. Finally, it is shown that imaging of zero-offset or puls-echo data can be formulated by single matrix inversion, involving phase shifts only.
Raman spectroscopy of molybdenum oxides (2002)

A special sample was prepared by controlled oxidation of MoO2, which contained MoO2, Mo4O11 and MoO3, in order to extend the knowledge about the resonance Raman effect in reduced molybdenum oxides from those close to MoO3 to those close to MoO2. This knowledge is of paramount importance because technical partial oxidation catalysts often contain intermediate Mo oxides of the Magneli type, e.g. Mo4O11, or Mo5O14. The Raman spectra of orthorhombic Mo4O11 and MoO2 have been identified in a Raman microspectroscopic image of 100 single spectra recorded of a mixture of MoO3, MoO2 and Mo4O11. A resonance Raman effect was proven to be responsible for the detection of the molybdenum oxide phases Mo4O11 and MoO2 in dilution with BN when excited at a laser wavelength of 632.8 nm by comparison with Raman microspectroscopic images of the identical sample when excited at 532 nm. The resonance Raman detection of reduced molybdenum oxide phases is discussed in the above mentioned context of their active role in catalytic partial oxidation reactions.
Gamma-ray spectrometers using superconducting transition edge sensors with external active feedback bias (2001)

We are developing X-ray and gamma-ray spectrometers with high absorption efficiency and high energy-resolution for X-ray and gamma-ray spectroscopy. They are microcalorimeters consisting of a bulk Sn absorber coupled to a Mo/Cu multilayer superconducting transition edge sensor (TES). We have operated these microcalorimeters with an external active feedback bias to linearize the detector response, improve the count rate performance, and extend the detection energy range. We measured an energy resolution of 120 eV FWHM for 60 keV incident gamma-rays with no degradation of resolution from active bias. We present X-ray and gamma-ray results and operation of this detector design in both bias modes.
PIII-31Guanylyl cyclase C (GCC) regulates mitochondrial biogenesis in intestinal epithelial cells (2006)

BACKGROUND Mitochondria provide energy in the form of ATP which supports biochemical processes and biological functions in cells. Mitochondrial insufficiency is related to several pathological processes, including ischemia-induced injury and tumorigenesis. Although guanylyl cyclases and cyclic GMP signaling regulate mitochondrial function in many tissues, the relationship between the tumor suppressor GCC and mitochondrial biogenesis in intestinal epithelial cells remains undefined. METHODS The relationship between GCC signaling and mitochondrial biogenesis was examined in vitro in NCM460 normal human colonocytes and the human colon carcinoma cell lines T84, Caco-2 and SW480, and in vivo in GCC−/− mice. Mitochondrial biogenesis was measured by qPCR, qRT-PCR, and immunoblot analysis. Mitochondrial function was quantified by the MTT assay. RESULTS Ligand activation of GCC and accumulation of cGMP induced mitochondrial biogenesis in normal and neoplastic intestinal epithelial cells. Indeed, GCC signaling increased the number and function of mitochondria in those cells. Moreover, intestinal epithelial cells of GCC−/− mice exhibit significantly reduced mitochondrial content compared to GCC+/+ mice. CONCLUSIONS GCC is a tumor suppressor whose signaling is coupled with mitochondrial biogenesis in intestine. In colorectal tumorigenesis, interruption of GCC signaling and the associated dysregulation of mitochondrial activity may play a role in disease initiation and/or progression. Clinical Pharmacology & Therapeutics (2005) 79, P66–P66; doi: 10.1016/j.clpt.2005.12.239
Species-specific identification of Candida krusei by hybridization with the CkF1,2 DNA probe (1996)

The species specificity of the Candida krusei DNA fingerprinting probe CkF1,2 has been investigated. A total of 149 pathogenic and nonpathogenic fungal and bacterial DNAs were screened with CkF1,2. The probe was cold labeled with peroxidase, and its specificity was assessed by using Southern blot, dot blot, and colony blot hybridization. Its sensitivity was determined by dot blot hybridization. The CkF1,2 probe proved to be species specific. It hybridized with DNA for the 112 C. krusei strains studied, whereas it failed to hybridize under low-stringency conditions to 37 DNAs from 27 different yeast species, including Candida albicans, Candida glabrata, Candida norvegensis, Candida inconspicua, Candida tropicalis, Candida valida, Candida zeylanoides, and Yarrowia lipolytica, as well as DNAs from the filamentous fungi and bacteria tested. However, CkF1,2 hybridized strongly with DNA of the yeast species Issatchenkia orientalis, the putative ascogenous perfect state of C. krusei. Amounts as small as 60 to 120 ng of C. krusei target DNA were detected by dot blot hybridization with CkF1,2. It permitted the direct screening of colony blots for early identification. The CkF1,2 probe has potential value as a diagnostic reagent for identifying C. krusei.
Integration of contrasting technologies into advanced optical security devices (2004)

OVP security pigment, the active ingredient in OVI security ink, is an assembly of high performance microscopic filters. The market acceptance of these filters has led them to become perhaps the most widely distributed interference devices on the planet. Recently, interference devices have been developed that provide the security industry with features beyond proven overt protection. New products are being launched that unite the attributes of optical interference with those of other technologies. One approach integrates thin film interference and diffractive interference to create a host of new security devices. The combined effects are complex and often surprising. The science behind the fusion is explored and the effects demonstrated. Interference pigment technology has also been combined with the science of magnetics to create a new line of OVP security pigments. To facilitate the practical use of such pigments, novel application technology has been developed which allows for the creation of new overt effects. This paper examines pigment designs and describes the physics behind the advanced application technology. The science of layering security features has long been demonstrated effective in deterring counterfeiting. Now it is possible to provide multiple layers of security within the same device through the integration of proven technologies.
SERS spectrum of the peptide thymosin‐β4 obtained with Ag nanorod substrate (2014)

Thymosin‐ β 4 is a peptide found at high concentrations in a wide range of mammalian cells. It has been shown to be elevated in metastatic cells. In this study, the surface‐enhanced Raman spectrum of thymosin‐ β 4 was obtained using a silver nanorod array surface‐enhanced Raman scattering substrate. Significant Raman peaks were found, and the corresponding vibrational modes were assigned based on previously published literature, with amide A–B, amide I, and amide III modes all identified. The majority of the remaining peaks were assigned modes based on the spectra of lysine and glutamic acid, the two most abundant amino acids in the thymosin‐ β 4 sequence. A standard Raman spectrum of thymosin‐ β 4 was also obtained and analyzed for comparison. Because thymosin‐ β 4 plays a significant role in regulating the formation of cellular cytoskeleton and other several biological processes, its Raman spectrum will be of use to researchers. Copyright © 2014 John Wiley &amp; Sons, Ltd.
Emergence of a Novel Swine-Origin Influenza A (H1N1) Virus in Humans (2009)

A novel swine-origin influenza A virus was identified as the cause of outbreaks of febrile respiratory infection ranging from self-limited to severe illness. It is likely that the number of confirmed cases underestimates the number of cases that have occurred.
Interactions of copepods with fractal-grid generated turbulence based on Tomo-PIV and 3D-PTV (2014)

Interactions of Copepods with Fractal-Grid Generated Turbulence based on Tomo-PIV and 3D-PTV1 ZHENGZHONG SUN, DANIEL KRIZAN, ELLEN LONGMIRE, University of Minnesota — A copepod escapes from predation by sensing fluid motion caused by the predator. It is thought that the escape reaction is elicited by a threshold value of the maximum principal strain rate (MPSR) in the flow. The present experimental work attempts to investigate and quantify the MPSR threshold value. In the experiment, copepods interact with turbulence generated by a fractal grid in a recirculating channel. The turbulent flow is measured by time-resolved Tomo-PIV, while the copepod motion is tracked simultaneously through 3D-PTV. Escape reactions are detected based on copepod trajectories and velocity vectors, while the surrounding hydrodynamic information is retrieved from the corresponding location in the 3D instantaneous flow field. Measurements are performed at three locations downstream of the fractal grid, such that various turbulence levels can be achieved. Preliminary results show that the number of escape reactions decreases at locations with reduced turbulence levels, where shorter jump distances and smaller change of swimming orientation are exhibited. Detailed quantitative results of MPSR threshold values and the dynamics of copepod escape will be presented.
1/f noise reduction in self-aligned AlGaAs/GaAs HBT with AlGaAs surface passivation layer (1992)

It is demonstrated that drastic improvement is achieved in base current noise for AlGaAs-passivated full self-aligned AlGaAs/GaAs HBTs, due to extrinsic base recombination current reduction. The base current 1/f noise was over 17 dB lower than that for an non-AlGaAs-passivated HBT, and comparable to that for an AlInAs/InGaAs HBT under a low collector density.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">&gt;</ETX>