gebhart/patrepeval huggingface dataset:
Novel mutations in the Na<sup>+</sup>, K<sup>+</sup>‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions (2003)

Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Ca(v)2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.
A multifilamented electrode in the middle cardiac vein reduces energy requirements for defibrillation in the pig (2000)

Placement of specialised defibrillation electrodes within the middle cardiac vein provides more effective defibrillation than a conventional tight ventricular lead.
BaTiO<sub>3</sub>-Based Non-Reducible Low-Loss Dielectric Ceramics (1999)

Dielectrics composed of BaTiO 3 -rare earth oxide-MgO have been studied to design a non-reducible low-loss dielectric material. Curie temperatures of dielectrics composed of BaTiO 3 –Gd 2 O 3 –MgO were lowered by Gd 2 O 3 , which provided the dielectrics with low power loss. It was found that the addition of BaZrO3 to BaTiO 3 –Gd 2 O 3 –MgO decreased the capacitance change with temperature. Gd 2 O 3 diffused easily into BaTiO 3 , but, it could not easily diffuse into BaTiO 3 to which BaZrO 3 had been added. It was considered that BaZrO 3 prevented the Gd 2 O 3 diffusion into BaTiO 3 , resulting the remains of ferroelectricity and reduced capacitance change. Thus non-reducible and low power loss X7R dielectric ceramics were developed.
Partial rank modulation for flash memories (2010)

Rank modulation was recently proposed as an information representation for multilevel flash memories, using permutations or ranks of n flash cells. The current decoding process finds the cell with the i-th highest charge level at iteration i, for i = 1, 2, ..., n-1. Motivated by the need to reduce the number of such iterations, we consider k-partial permutations, where only the highest k cell levels are considered for information representation. We propose a generalization of Gray codes for k-partial permutations such that information is updated efficiently.
Bioartificial Polymeric Material: Poly(Ethylene Glycol) Crosslinked with Albumin. II: Mechanical and Thermal Properties (1998)

A family of hydrogels based on the crosslinking of bovine serum albumin (BSA) and activated poly(ethylene glycol) (PEG), were characterized. The swelling process was found to be dependent on the molecular weight of the PEG used and on the OH/NH 2 molar ratio of the reagents. These hydrogels performed a volume expansion from 266 to 554% when PEG with molecular weights from 3,350 to 20,000 were used. The volume expansion was greater when the OH/NH 2 molar ratio increased. Some anisotropy occurred during swelling since thinner devices swelled more than thicker ones, due to the difference of constraints in the hydrogels structure. Mechanical studies showed that these hydrogels were highly deformable and presented good elastic behavior since they broke only after 80% deformation. At this point, they needed a compression force ranging from 165 to 456 g/cm 2 to break. The differentiation of two kinds of water in these highly swollen hydrogels was performed using DSC studies at low temperature. Free water (i.e., bulk water) was found to be the predominant form which filled the network, .and bound water (i.e., water engaged in interactions with PEG) tended to form a trihydrate complex (three molecules of water per ethylene oxide repeated unit). Three forms of water with different evaporating rates were detected by DSC studies at high temperature. This other form of water may be important for maintaining the hydrogen's form.
Generation and application of hard-x-ray picosecond pulses by an optically driven x-ray diode (1993)

Generation of hard x-ray pulses in the range 10-100 ps has been achieved by driving a vacuum photodiode with 193 nm picosecond light pulses in order to maximize the photo emission from metallic cathodes.
Nonblocking space–wavelength networks with wave-mixing frequencyconversion (2002)

We describe what we believe to be new designs for all-optical cross connects, capable of wavelength conversion. They are based on two-dimensional, space–wavelength, Benes or Cantor topologies, and they exploit cascaded wave-mixing bulk frequency conversion. In these cross connects many channels at distinct frequencies can be simultaneously frequency translated in a common wave-mixing device, and a given lightpath may be converted many times between its input and output. The new wavelength-interchanging cross connects are nonblocking and require O{F log2W[log2(FW)]n} wave-mixing converters, where n = 0, 1.
Regional Ultrahigh-Resolution Rescan in a Clinical Whole-Body CT Scanner Using a Contact Detector Insert (2019)

Ultrahigh-resolution, low-dose rescans in a region of interest following a general screening computed tomography (CT) scan is motivated by the need to reduce invasive tissue biopsy procedures in cancer screening. We describe a new method to meet the conflicting demands of ultrahigh resolution, high-speed and ultralow-dose, and the first proof-of-concept experiment. With improving detector resolution, the limiting factor for the system resolution of whole-body CT scanners shifts to the penumbra of the source focal spot. The penumbra unsharpness is minimized by inserting flat-panel detector(s) that are in direct contact with the body. In the hybrid system, the detector insert and the CT detector acquire data simultaneously, whereby the standard CT images give the position and orientation of the detector insert(s) as needed for tomosynthesis reconstruction. Imaging tests were performed with a compact photon-counting detector insert on resolution targets of both high- and low-contrast as well as a mouse specimen, all inside a body phantom. Detector insert tomosynthesis provided twice the resolution of the CT scanner alone at the same dose concentration. The short 2-cm beam collimation of the tomosynthesis rescan gave an effective dose equivalent to 6% of an average CT scan in the chest or abdomen.
Diffuse Neuroaxonal Involvement in Mucolipidosis IV as Assessed by Proton Magnetic Resonance Spectroscopic Imaging (2003)

Mucolipidosis IV is an autosomal recessive disorder caused by mutations in MCOLN1, which codes for mucolipin, a transient receptor potential protein. In order to investigate brain metabolic abnormalities in mucolipidosis IV, we studied 14 patients (11 children, 3 adults) by proton magnetic resonance spectroscopic imaging. The ratios of N-acetylaspartate/ creatine-phosphocreatine and N-acetylaspartate/choline-containing compounds in patients with mucolipidosis IV were significantly reduced in all regions of interest except the parietal gray matter and thalamus. The ratios of choline-containing compounds/creatine-phosphocreatine was not significantly reduced in patients compared with controls. The ratio of N-acetylaspartate/creatine-phosphocreatine were significantly lower (P = .005) in the more neurologically impaired patients compared with the least impaired. For every region of interest, except for parietal gray matter, the ratio of N-acetylaspartate/creatine-phosphocreatine was lower in the more motorically impaired patient group. There was no difference for the ratio of N-acetylaspartate/creatine-phosphocreatine between younger and older patients. These findings suggest that mucolipidosis IV is largely a static developmental encephalopathy associated with diffuse neuronal and axonal damage or dysfunction. Mucolipin deficiency impairs motor more than sensory central nervous system pathways.
Enhanced diversity and aflatoxigenicity in interspecific hybrids of<i>Aspergillus flavus</i>and<i>Aspergillus parasiticus</i> (2015)

Aspergillus flavus and A. parasiticus are the two most important aflatoxin-producing fungi responsible for the contamination of agricultural commodities worldwide. Both species are heterothallic and undergo sexual reproduction in laboratory crosses. Here we examine the possibility of interspecific matings between A. flavus and A. parasiticus. These species can be distinguished morphologically and genetically, as well as by their mycotoxin profiles. Aspergillus flavus produces both B aflatoxins and cyclopiazonic acid (CPA), B aflatoxins or CPA alone, or neither mycotoxin; Aspergillus parasiticus produces B and G aflatoxins or the aflatoxin precursor O-methylsterigmatocystin, but not CPA. Only four of forty-five attempted interspecific crosses between opposite mating types of A. flavus and A. parasiticus were fertile and produced viable ascospores. Single ascospore strains from each cross were shown to be recombinant hybrids using multilocus genotyping and array comparative genome hybridization. Conidia of parents and their hybrid progeny were haploid and predominantly monokaryons and dikaryons based on flow cytometry. Multilocus phylogenetic inference showed that experimental hybrid progeny were grouped with naturally occurring A. flavus L strain and A. parasiticus. Higher total aflatoxin concentrations in some F1 progeny strains compared to midpoint parent aflatoxin levels indicate synergism in aflatoxin production; moreover, three progeny strains synthesized G aflatoxins that were not produced by the parents, and there was evidence of allopolyploidization in one strain. These results suggest that hybridization is an important diversifying force resulting in the genesis of novel toxin profiles in these agriculturally important fungi.
Improving grinding process economics through more effective fluid application (2008)

This paper discusses the thermal energy partitioning that occurs with different modes of grinding. It also looks at the cooling effect of grinding fluids and how they can be applied more effectively to cool and lubricate the workpiece surface. Flowrate and pressure models are used to optimise the main fluid jet that is applied to the grinding process. The heat transfer characteristics of superabrasive wheels, as compared to conventional abrasives, will also be presented and discussed. Finally, case studies are presented, that clearly show the economic and technological advantages of coherent-jet nozzles over a more conventional approach.
Microelectromechanical reprogrammable logic device (2016)

In modern computing, the Boolean logic operations are set by interconnect schemes between the transistors. As the miniaturization in the component level to enhance the computational power is rapidly approaching physical limits, alternative computing methods are vigorously pursued. One of the desired aspects in the future computing approaches is the provision for hardware reconfigurability at run time to allow enhanced functionality. Here we demonstrate a reprogrammable logic device based on the electrothermal frequency modulation scheme of a single microelectromechanical resonator, capable of performing all the fundamental 2-bit logic functions as well as n-bit logic operations. Logic functions are performed by actively tuning the linear resonance frequency of the resonator operated at room temperature and under modest vacuum conditions, reprogrammable by the a.c.-driving frequency. The device is fabricated using complementary metal oxide semiconductor compatible mass fabrication process, suitable for on-chip integration, and promises an alternative electromechanical computing scheme.
Using automatically transcribed dialogs to learn user models in a spoken dialog system (2008)

We use an EM algorithm to learn user models in a spoken dialog system. Our method requires automatically transcribed (with ASR) dialog corpora, plus a model of transcription errors, but does not otherwise need any manual transcription effort. We tested our method on a voice-controlled telephone directory application, and show that our learned models better replicate the true distribution of user actions than those trained by simpler methods and are very similar to user models estimated from manually transcribed dialogs.
40 MicroRNAs in the human heart: a clue to fetal gene reprogramming in heart failure (2007)

Background—Chronic heart failure is characterized by left ventricular remodeling and reactivation of a fetal gene program; the underlying mechanisms are only partly understood. Here we provide evidence that cardiac microRNAs, recently discovered key regulators of gene expression, contribute to the transcriptional changes observed in heart failure. Methods and Results—Cardiac transcriptome analyses revealed striking similarities between fetal and failing human heart tissue. Using microRNA arrays, we discovered profound alterations of microRNA expression in failing hearts. These changes closely mimicked the microRNA expression pattern observed in fetal cardiac tissue. Bioinformatic analysis demonstrated a striking concordance between regulated messenger RNA expression in heart failure and the presence of microRNA binding sites in the respective 3 untranslated regions. Messenger RNAs upregulated in the failing heart contained preferentially binding sites for downregulated microRNAs and vice versa. Mechanistically, transfection of cardiomyocytes with a set of fetal microRNAs induced cellular hypertrophy as well as changes in gene expression comparable to the failing heart. Conclusions—Our data support a novel mode of regulation for the transcriptional changes in cardiac failure. Reactivation of a fetal microRNA program substantially contributes to alterations of gene expression in the failing human heart. (Circulation. 2007;116:258-267.)
A Reconfigurable 0.1–10 MHz DT Passive Dynamic Zoom ADC for Cellular Receivers (2020)

This paper presents a multi-mode, dynamically zooming analog to digital converter (ADC). The architecture is based on a 5b interpolating flash ADC as the zooming unit and a passive discrete-time ΔΣ modulator as the fine conversion unit. The proposed ADC provides a dynamic zooming technique, employing an interpolating zooming front-end. The modulator covers between 0.1 MHz and 10 MHz signal bandwidth which makes it suitable for cellular applications including 4G radio systems. By reconfiguring the OSR, bias current, and component parameters, optimal power consumption can be achieved for every mode. The ADC is implemented in 0.13 μm CMOS technology and it achieves an SNDR of 83/75.7/73.2/67 dB for 0.1/1.92/5/10MHz bandwidth with 1.3/4.7/8.1/10.3mW power consumption from a 1.2 V supply.
In Silico Modification Of Thermostable Lipase from Geobacillus sp. Strain T1 (2006)

Structural modification through molecular modeling on T1 lipase was analyzed in details to gain insight for their role and biological function in certain reactions. A total of 65 pocket cavities were found in T1 structure by pvSOAR. 1KU0 and 1JI3 structures from PDB were found to have highest similarities with T1 lipase. Nine largest pockets were selected as potential binding sites for ligand docking. Ten chemical ligands were screened from PDB for automated docking in T1 lipase. Ligands PHE and PDO posted their lowest final docked energies, -6.71 kcal/mol in pocket 62 and -4.69 kcal/mol in pocket 60, respectively. Ligand BEN posted -4.04 kcal/mol, its lowest final docked energy at pocket 60. Hydrogen bonds and hydrophobic interactions played a major role to distinguish the differences of final docked energy of ligands in different pockets.
Point spread function of a collinear holographic storage system (2007)

A paraxial solution to the coaxial holographic storage algorithm is proposed based on the scalar diffraction theory and a VOHIL model (volume hologram being an integrator of the lights emitted from elementary light sources), which can give insight into the optical characteristics of the collinear holographic storage system in an effective way, including the point spread function and shift selectivity. The paraxial solution shows that the reference pattern is the key issue in the point spread function. Thus, the bit error rate of the system can be improved by changing the reference pattern. The proposed solution will be useful in the design of a new reference pattern to perform a high-quality readout pattern in the coaxial holographic storage system.
Robust Adaptive Read Scheme for 7nm Configuration SRAMs (2021)

This paper presents a new Adaptive Read scheme for Configuration SRAMs with a feedback mechanism to eliminate Read-Disturb, enhancing Read Margin, yield and performance. The proposed scheme is implemented on TSMC 7nm FinFETs for Configuration SRAMs in Xilinx FPGAs, and this idea is applicable to any distributed SRAM structures. The design has an intrinsic dynamic feedback mechanism to adjust the read address voltage effectively, based on the process, voltage and temperature (PVT), by using a special replica memory cell that emulates actual memory cells. The proposed Op-Amp based design with a memory cell emulating circuit in the negative feedback is shown to be working on silicon, which tunes pass-gate (PG) address voltage during read, with 2.7x improvement in read margin, and also avoids read-disturb.
Muscle-enriched TEF-1 isoforms bind M-CAT elements from muscle-specific promoters and differentially activate transcription. (1994)

M-CAT elements mediate cardiac- and embryonic skeletal muscle-specific expression of the cardiac troponin T gene and a number of other cardiac-specific genes. M-CAT binding factor was shown to be related to cloned human TEF-1, a transcriptional regulator of the SV40 viral enhancer. Here we describe the cloning of TEF-1 from chick heart and the identification of several novel isoforms. We show that TEF-1 mRNA is considerably enriched in cardiac and skeletal muscle, consistent with a proposed role in muscle gene transcription. The predominant TEF-1 isoforms, TEF-1A and a novel isoform TEF-1B, bind M-CAT elements with high affinity and in a sequence-specific manner. We further demonstrate that the C-terminal portion of TEF-1B, which contains the 13-amino acid exon that distinguishes this isoform, can activate transcription when linked to a heterologous DNA binding domain, while the same domain of TEF-1A cannot. Therefore, isoforms of TEF-1 may play different roles in the regulation of M-CAT-dependent promoters in striated muscle cells.
Preliminary results of a phase I clinical trial using an autologous dendritic cell cancer vaccine targeting HER2 in patients with metastatic cancer or operated high-risk bladder cancer (NCT01730118). (2019)

2639 Background: We developed a HER2 targeting autologous dendritic cell (DC) vaccine transduced with an adenovirus expressing the extracellular and transmembrane domains of HER2 (AdHER2). In mice, the homologous vaccine cured virtually all mice with established or metastatic tumors. Protection was dependent on antibodies against HER2 that inhibited phosphorylation, but was ADCC independent. We translated these findings into a clinical trial. Methods: This is an open-label, phase I study in patients with 1) metastatic cancer that progressed after ≥ 1 standard therapies, or 2) history of high risk bladder cancer with definitive treatment, whose tumor is HER2 immunohistochemistry (IHC) score ≥ 1+ or FISH HER2/CEP17 ratio ≥ 1.8. Part 1 of the study enrolled patients naïve to HER2-directed therapies and Part 2 enrolled patients who progressed with ≥ 1 anti-HER2 therapy. Results: In Part 1, the lowest dose level (5E+6 viable DCs, N=7, 2 inevaluable) showed no benefit. At the second and third dose level (10E+6 and 20E+6; N=7 and N=4; 0 and 1 inevaluable in each), 1 CR (ovarian), 1 PR (stomach), and 3 SD (1 ovarian carcinosarcoma and 2 colon) were observed. Two bladder cancer patients who received vaccine as an adjuvant did not recur for +24 and +36 month each. In Part 2 (N=6, 2 inevaluable), 1 male breast cancer patient showed SD. Response assessed by Modified Immune Related Response Criteria is summarized in the Table. Injection-site reactions occurred in all patients and were self-limited. Echo, EKG and troponin follow up to 2 years showed no cardiac toxicity. Dose-expansion cohort (40E+6) is enrolling. Conclusions: We have translated a cancer vaccine from mice to a clinical trial. Preliminary results of a phase I trial of an autologous AdHER2 DC vaccine show potential clinical benefit in select patients with HER2 expressing tumors with no cardiac toxicity. Clinical trial information: NCT01730118. [Table: see text]
Platelet-Derived Growth Factor Receptor Mediates Activation of Ras through Different Signaling Pathways in Different Cell Types (1993)

A series of pieces of evidence have shown that Ras protein acts as a transducer of the platelet-derived growth factor (PDGF) receptor-mediated signaling pathway: (i) formation of Ras.GTP is detected immediately on PDGF stimulation, and (ii) a dominant inhibitory mutant Ras, as well as a neutralizing anti-Ras antibody, can interfere with PDGF-induced responses. On the other hand, several signal transducing molecules including phosphatidylinositol 3-kinase (PI3-K), GTPase-activating protein (GAP), and phospholipase C gamma (PLC gamma) bind directly to the PDGF receptor and become tyrosine phosphorylated. Recently, it was shown that specific phosphorylated tyrosines of the PDGF receptor are responsible for interaction between the receptor and each signaling molecule. However, the roles of these signaling molecules have not been elucidated, and it remains unclear which molecules are implicated in the Ras pathway. In this study, we measured Ras activation in cell lines expressing mutant PDGF receptors that are deficient in coupling with specific molecules. In fibroblast CHO cells, a mutant receptor (Y708F/Y719F [PI3-K-binding sites]) was unable to stimulate Ras, whereas another mutant (Y739F [the GAP-binding site]) could do so, suggesting an indispensable role of PI3-K or a protein that binds to the same sites as PI3-K for PDGF-stimulated Ras activation. By contrast, both of the above mutants were capable of stimulating Ras protein in a pro-B-cell line, BaF3. Furthermore, a mutant receptor (Y977F/Y989F [PLC gamma-binding sites]) could fully activate Ras, and the direct activation of protein kinase C and calcium mobilization had almost no effect on the GDP/GTP state of Ras in this cell line. These results suggest that, in the pro-B-cell transfectants, each of the above pathways (PI3-K, GAP, and PLC gamma) can be eliminated without a loss of Ras activation. It remains unclear whether another unknown essential pathway which regulates Ras protein exists within BaF3 cells. Therefore, it is likely that several different PDGF receptor-mediated signaling pathways function upstream of Ras, and the extent of the contribution of each pathway for the regulation of Ras may differ among different cell types.