gebhart/patrepeval huggingface dataset:
Analysis of the<i>DYSF</i>mutational spectrum in a large cohort of patients (2008)

Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Here, we analysed the mutational data from the largest cohort described to date, a cohort of 134 patients, included based on clinical suspicion of primary dysferlinopathy and/or dysferlin protein deficiency identified on muscle biopsy samples. Data were compiled from 38 patients previously screened for mutations in our laboratory (Nguyen, et al., 2005; Nguyen, et al., 2007), and 96 supplementary patients screened for DYSF mutations using genomic DHPLC analysis, and subsequent sequencing of detected variants, in a routine diagnostic setting. In 89 (66%) out of 134 patients, molecular analysis identified two disease causing mutations, confirming the diagnosis of primary Dysferlinopathy on a genetic basis. Furthermore, one mutation was identified in 30 patients, without identification of a second deleterious allele. We are currently developing complementary analysis for patients in whom only one or no disease-causing allele could be identified using the genomic screening procedure. Altogether, 64 novel mutations have been identified in this cohort, which corresponds to approximately 25% of all DYSF mutations reported to date. The mutational spectrum of this cohort significantly shows a higher proportion of nonsense mutations, but a lower proportion of deleterious missense changes as compared to previous series. (c) 2008 Wiley-Liss, Inc.
cGMP Catabolism by Phosphodiesterase 5A Regulates Cardiac Adrenergic Stimulation by NOS3-Dependent Mechanism (2004)

Beta-adrenergic agonists stimulate cardiac contractility and simultaneously blunt this response by coactivating NO synthase (NOS3) to enhance cGMP synthesis and activate protein kinase G (PKG-1). cGMP is also catabolically regulated by phosphodiesterase 5A (PDE5A). PDE5A inhibition by sildenafil (Viagra) increases cGMP and is used widely to treat erectile dysfunction; however, its role in the heart and its interaction with beta-adrenergic and NOS3/cGMP stimulation is largely unknown. In nontransgenic (control) murine in vivo hearts and isolated myocytes, PDE5A inhibition (sildenafil) minimally altered rest function. However, when the hearts or isolated myocytes were stimulated with isoproterenol, PDE5A inhibition was associated with a suppression of contractility that was coupled to elevated cGMP and increased PKG-1 activity. In contrast, NOS3-null hearts or controls with NOS inhibited by N(G)-nitro-L-arginine methyl ester, or soluble guanylate cyclase (sGC) inhibited by 1H-[1,2,4]oxadiazolo[4,3-a]quinoxaline-1-one, showed no effect of PDE5A inhibition on beta-stimulated contractility or PKG-1 activation. This lack of response was not attributable to altered PDE5A gene or protein expression or in vitro PDE5A activity, but rather to an absence of sGC-generated cGMP specifically targeted to PDE5A catabolism and to a loss of PDE5A localization to z-bands. Re-expression of active NOS3 in NOS3-null hearts by adenoviral gene transfer restored PDE5A z-band localization and the antiadrenergic efficacy of PDE5A inhibition. These data support a novel regulatory role of PDE5A in hearts under adrenergic stimulation and highlight specific coupling of PDE5A catabolic regulation with NOS3-derived cGMP attributable to protein subcellular localization and targeted synthetic/catabolic coupling.
The Effect of Flow Rate on Morphology and Deposition Area of Electrospun Nylon 6 Nanofiber (2012)

Electrospinning is a process that produces continuous polymer fibers with diameters of a nanometric scale. Nylon 6 in formic acid was electrospun to obtain the nanofibers. Fibers with different diameters were obtained using flow rates of 0.1, 0.5, 1 and 1.5 mL/hr, 20 wt% solution concentration, with an applied voltage of 20 kV and 15 cm spinning distance. Flow rate influenced the fiber diameter distribution, droplet size and its initiating shape at the capillary tip, the trajectory of the jet, maintenance of Taylor cone, areal density and nanofiber morphology. The morphology of the electrospun nanofibers was analyzed by using the scanning electron microscope (SEM). The effect of flow rate on the deposition area was also investigated for better control of the process. It was observed that a stabilized Taylor cone, small average droplet size, narrowest fiber diameter distribution, more stability in the originating jet, and uniform morphology of nanofiber is obtained at a flow rate of 0.5 mL/hr.
Organizational Buyer Behavior of the Family Firm: A Review of the Literature and Set of Propositions (1995)

The aggregate volume of purchasing by family firms may account for half of the industrial purchasing in the United States. However, whether the buying processes of family firms are significantly different from those of nonfamily firms is unknown. Selected frameworks of organizational buyer behavior are imposed on family business literature in order to address this issue. There is ample evidence that the buyer behavior of family firms should be differentiated in five areas: patterns of influence in the buying center, organizational climate, organizational buying processes, buyer motivations, and formulation of marketing strategies.
Encapsulation of fluoride sludge in stabilised mud blocks (2007)

Non-engineered disposal of hazardous sludge can contaminate surface water and groundwater sources. Defluoridation of water using magnesium oxide (MgO) is being implemented in a village in Karnataka, India. Defluoridation of water by the MgO method produces fluoride-contaminated magnesium oxide sludge (FCMOS). This paper examines the impact of encapsulating FCMOS on the engineering and environmental integrity of the host matrix. Encapsulation of the sludge is accomplished by using the FCMOS as a constituent of stabilised mud blocks (SMBs). SMBs are an alternative to burnt bricks and are produced by cement stabilisation of densely compacted soil mass. Experimental results indicate that incorporation of FCMOS as a constituent of SMBs does not impact their compressive strength, linear expansion or durability. Furthermore, the fluoride release potential of SMB specimens is not increased.
A Comparative Analysis on the Scientific Research Output of Five Key Provincial Universities in Jilin Province in the Period of 2010—2014 (2015)

In order to explore the development trend and level of scientific research output of Jilin Agricultural University, this paper makes both static and dynamic comparisons of the scientific research output of Jilin Agricultural University including the journal papers, conference papers, and patent documents,etc. with that of other four key provincial universities of Jilin Province: Yanbian University, Beihua University, Changchun University of Science and Technology,and Changchun University of Technology.
<i>Saccharomyces cerevisiae</i> mitochondria can synthesise FMN and FAD from externally added riboflavin and export them to the extramitochondrial phase (1998)

Evidence is given that mitochondria isolated from Saccharomyces cerevisiae can take up externally added riboflavin and synthesise from it both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) probably due to the existence of the mitochondrial riboflavin kinase already reported and the novel mitochondria FAD synthetase. Moreover Saccharomyces cerevisiae mitochondria can export the newly synthesised flavin derivatives to the extramitochondrial phase. This has been proven to take place with 1:1 stoichiometry with riboflavin decrease outside mitochondria, thus showing that flavin traffic occurs across the mitochondrial membranes.
Brief encounters thinking about images in assessment (1998)

Abstract This article discusses the different images available to the therapist in an assessment. It explores images made by the client; images which emerge in the narratives of client and family; and internal images formed through the counter-transference of the therapist. The nature of assessment both for client and therapist and the associations aroused by the word are discussed and a case is put forward for the creative use of this often brief and limited contact. At the centre of the article is a case study to allow reflection on an interactional model for assessment that needs to consider both internal and external factors.
Photorefractive integrated-optical switch arrays in LiNbO_3 (1990)

A new optical switch design is reported that consists of two sets of parallel channel waveguides intersecting at right angles. Arrays based on Ti:LiNbO(3) technology, with waveguide intersections iron doped to provide photorefractive sensitivity, have been fabricated. Interfering guided beams are used to write index gratings at the waveguide intersections, which in turn diffract a portion of an incident signal beam into the crossing waveguide. Arrays ranging from 15 x 15 up to 50 x 50 waveguides are constructed in an active area of 5 mm x 5 mm. Diffraction efficiency and writing-time measurements are reported along with a proposal for a practical architecture.
Transient Terminal Cu−Nitrene Intermediates from Discrete Dicopper Nitrenes (2006)

Reaction of the copper(I) beta-diketiminate {[Me3NN]Cu}2(mu-toluene) with the aryl azide N3Ar (Ar = 3,5-Me2C6H3) in toluene results in immediate effervescence and formation of the dicopper nitrene {[Me3NN]Cu}2(mu-NAr) (2) in 77% yield. The X-ray structure of 2 shows nearly symmetric bonding of the nitrene to two Cu centers separated by 2.911(1) A with Cu-N distances of 1.794(5) and 1.808(5) A along with a Cu-N-Cu angle of 107.8(2) degrees . This structure is conceptually related to the dicopper carbenes {[MexNN]Cu}2(mu-CPh2) (x = 2 or 3) (Dai, X.; Warren J. Am. Chem. Soc. 2004, 126, 10085. Badiei, Y. M.; Warren J. Organomet. Chem. 2005, 690, 5989.) which exhibit shorter Cu-Cu distances (2.4635(7) or 2.485(1) A) and acute Cu-C-Cu angles (79.51(14) or 80.1(2) degrees ). Addition of the Cu(I) anilidoimine {[Me2AI]Cu}2 (prepared from CuOtBu and the aniline-imine H[Me2AI] in 77% yield) to a benzene-d6 solution of 2 results in the formation of two new anilidoimine complexes {[Me2AI]Cu(mu- NAr)Cu[Me3NN] (5) and {[Me2AI]Cu}2(mu-NAr) (6) as well as [Me3NN]Cu(benzene) over 3 h. These observations are consistent with the slow dissociation of a [Me3NN]Cu fragment from 2 to generate the transient terminal nitrenes [Me3NN]Cu=NAr and [Me2AI]Cu=NAr quickly trapped by the [Me2AI]Cu fragment to form the new unsymmetrical and symmetrical dicopper nitrenes 5 and 6. Preliminary reactivity studies indicate electrophilic reactivity at the nitrene moiety. Dicopper nitrene 2 reacts with 10 equiv PMe3 and CNtBu to give ArN=PMe3 and ArN=C=NtBu in 94% and 92% yields, respectively, with concomitant formation of [Me3NN]Cu(L) (L = PMe3 and CNtBu). Reaction between 2 and 2 equiv PMe3 allows for observation of the structurally characterized Cu(I) phosphaimide [Me3NN]Cu(ArN=PMe3) (7).
Regularization of context-dependent deep neural networks with context-independent multi-task training (2015)

The use of context-dependent targets has become standard in hybrid DNN systems for automatic speech recognition. However, we argue that despite the use of state-tying, optimising to context-dependent targets can lead to over-fitting, and that discriminating between arbitrary tied context-dependent targets may not be optimal. We propose a multitask learning method where the network jointly predicts context-dependent and monophone targets. We evaluate the method on a large-vocabulary lecture recognition task and show that it yields relative improvements of 3-10% over baseline systems.
Antithrombosis of Gross Saponin of Tribulus Terrestris injection (2005)

Objective To study the effects of Gross Saponins of Tribulus Terrestris (GSTT) on thrombosis in vivo and in vitro. Methods ①The effects of GSTT on thrombus wet weight and thrombosis time of rats in vivo and the thrombus length, thrombus wet and dry weight in rats in vitro were observed by using the methods of neck artery-vein side-way thrombosis and artery thrombosis induced by electricity stimulation.②The effects of GSTT on the blood viscosity in blood stasis rats were observed. Results ①GSTT with doses of 20.8 and 31.2 mg·kg -1 could significantly decrease thrombus wet weight (P0.05 or P0.01), and prolong thrombosis time (P0.01), and shorten the thrombus length in vitro(P0.05), and decrease thrombus wet and dry weight in vitro (P0.01 or P0.05). ②GSTT with doses of 20.8 and 31.2 mg·kg -1 can significantly decrease blood viscosity (P0.01).Conclusion GSTT has the effects of antithrombosis, and its mechanism is related to lowering blood viscosity and improving blood hemorheology.
Substituted benzamides. 1. Potential nondopaminergic antagonists of chemotherapy-induced nausea and emesis (1988)

A series of new substituted benzamides has been synthesized and evaluated for dopamine antagonist activity and for antagonism of cisplatin-induced emesis in the dog and in the ferret. It was found that modification of the 2-methoxy substituent of metoclopramide was detrimental to dopaminergic D2 antagonism but not necessarily to antagonism of cisplatin-induced emesis. A number of analogues having a beta-keto, beta-hydroxy, beta-methoxy, beta-imino, or beta-unsaturated alkyloxy substituent instead of methoxy have shown equal or superior protection from emesis to that of metoclopramide. At the same time these compounds were found to be free of dopaminergic D2 antagonism in both in vitro ([3H]spiperone binding) and in vivo tests (rat catalepsy, antagonism of apomorphine-induced stereotypy in the rat, and apomorphine-induced emesis in the dog).
Subsonic tests of an all-flush-pressure-orifice air data system (1981)

The use of an all-flush-pressure-orifice array as a subsonic air data system was evaluated in flight and wind tunnel tests. Two orifice configurations were investigated. Both used orifices arranged in a cruciform pattern on the airplane nose. One configuration also used orifices on the sides of the fuselage for a source of static pressure. The all-nose-orifice configuration was similar to the shuttle entry air data system (SEADS). The flight data were obtained with a KC-135A airplane. The wind tunnel data were acquired with a 0.035-scale model of the KC-135A airplane. With proper calibration, several orifices on the vertical centerline of the vehicle's nose were found to be satisfactory for the determination of total pressure and angle of attack. Angle of sideslip could be accurately determined from pressure measurements made on the horizontal centerline of the aircraft. Orifice pairs were also found that provided pressure ratio relationships suitable for the determination of Mach number. The accuracy that can be expected for the air data determined with SEADS during subsonic orbiter flight is indicated.
Polyphase back-projection filtering for image resolution enhancement (2000)

The method for reconstruction and restoration of super-resolution images from sets of low-resolution images presented is an extension of the algorithm proposed by Irani and Peleg (1991). After estimating the projective transformation parameters between the image sequence frames, the observed data are transformed into a sequence with only quantised sub-pixel translations. The super-resolution reconstruction is an iterative process, in which a high-resolution image is initialised and iteratively improved. The improvement is achieved by back-projecting the errors between the translated low-resolution images and the respective images obtained by simulating the imaging system. The imaging system's point-spread function (PSF) and the back-projection function are first estimated with a resolution higher than that of the super-resolution image. The two functions are then decimated so that two banks of polyphase filters are obtained. The use of the polyphase filters allows exploitation of the input data without any smoothing and/or interpolation operations. The presented experimental results show that the resolution improvement is better than the results obtained with Irani and Peleg's algorithm.
Comparison of methods for searching protein sequence databases (1995)

We have compared commonly used sequence comparison algorithms, scoring matrices, and gap penalties using a method that identifies statistically significant differences in performance. Search sensitivity with either the Smith-Waterman algorithm or FASTA is significantly improved by using modern scoring matrices, such as BLOSUM45-55, and optimized gap penalties instead of the conventional PAM250 matrix. More dramatic improvement can be obtained by scaling similarity scores by the logarithm of the length of the library sequence (In()-scaling). With the best modern scoring matrix (BLOSUM55 or JO93) and optimal gap penalties (-12 for the first residue in the gap and -2 for additional residues), Smith-Waterman and FASTA performed significantly better than BLASTP. With In()-scaling and optimal scoring matrices (BLOSUM45 or Gonnet92) and gap penalties (-12, -1), the rigorous Smith-Waterman algorithm performs better than either BLASTP and FASTA, although with the Gonnet92 matrix the difference with FASTA was not significant. Ln()-scaling performed better than normalization based on other simple functions of library sequence length. Ln()-scaling also performed better than scores based on normalized variance, but the differences were not statistically significant for the BLOSUM50 and Gonnet92 matrices. Optimal scoring matrices and gap penalties are reported for Smith-Waterman and FASTA, using conventional or In()-scaled similarity scores. Searches with no penalty for gap extension, or no penalty for gap opening, or an infinite penalty for gaps performed significantly worse than the best methods. Differences in performance between FASTA and Smith-Waterman were not significant when partial query sequences were used. However, the best performance with complete query sequences was obtained with the Smith-Waterman algorithm and In()-scaling.
Minimum critical defects in extreme-ultraviolet lithography masks (1997)

We have performed aerial image simulations to characterize critical defects on extreme-ultraviolet lithography masks based on their interactions with typical mask patterns. Instead of the conventional critical dimension criteria, an exposure–defocus process window allowing a 10% critical dimension variation was used as the criteria for defining the critical defects. We also carried out aerial image simulations of isolated defects to obtain information for future reticle blank defect inspection needs.
Nonenzymatic Glycosylation of Serum IgG and Its Effect on Antibody Activity in Patients With Diabetes Mellitus (1987)

Susceptibility to infection is assumed to be increased in diabetic patients, although its mechanism is unknown. The purpose of this study was to determine whether glycosylation of circulating immunoglobulins is related to the decrease of antibody activity in diabetic patients. Thirty-five patients with type II (non-insulin-dependent) diabetes and 14 age-matched normal controls were examined. Nonenzymatic glycosylation of serum immunoglobulin G (IgG) in vivo was measured by two different techniques, colorimetry and affinity chromatography. The levels of glycosylated IgG were significantly higher in diabetic patients than in normal controls. To evaluate the antibody activity of glycosylated IgG, anti-streptolysin O (ASO) titers after in vitro glycosylation of IgG and antibody titers before and after in vivo immunization with influenza vaccine were determined. IgG specific for streptolysin O purified by affinity chromatography decreased ASO titers after in vitro glycosylation. In diabetic patients, serum titers of hemagglutinin-inhibiting antibody against influenza viruses 4 wk after initial immunization were significantly lower than those in normal controls. These results indicate that serum IgG in diabetic patients was nonenzymatically glycosylated, and this modification in vivo might be associated with its functional alteration.
Low‐Temperature Fusion of Polymeric Nanostructures Using Carbon Dioxide (2006)

A low-temperature fusion method for preparing polymeric nanostructures based on low-pressure CO2-enhanced chain mobility at the nanoscale is presented. Characterization of the structures reveals a pressure-tunable rubbery layer on the surface. The successful fusion of polymeric nanostructures (see figure) at temperatures below the bulk glass-transition temperature of the polymer is demonstrated. The technique has potential for the assembly of 3D micro/nanoscale polymeric devices for biomedical applications.
Feeling with the Mind’s Eye: the Role of Visual Imagery in Tactile Perception (2001)

Cross-modal interactions are characteristic of normal perception. In this article, we discuss our work on cross-modal interactions between touch and vision in normally sighted humans. A region of extrastriate visual cortex, near the parieto-occipital fissure, is not only active during but also necessary for tactile discrimination of grating orientation (but not spatial frequency). This is consistent with a role for visual imagery in certain aspects of tactile perception. These findings have implications for the interpretation of visual cortical involvement in Braille reading by the blind.
The Effects of Neutron Irradiation on Germanium and Silicon (1958)

The known effects of neutron irradiation upon majority and minority carrier properties of germanium and silicon are reviewed, and used as a basis to derive a theoretical expression for the dependence of grounded-emitter current gain of a transistor upon accumulated neutron dose. This theoretical expression assumes a Shockley-Read recombination mechanism in the base of the transistor; the crystal defects introduced by bombardment act as recombination sites. A number of germanium and silicon transistors were irradiated at different facilities; the observed changes in transistor parameters are explained in terms of the theory. This explanation enables determination for germanium of certain basic quantities in recombination theory, viz., the position in the forbidden band of the recombination site (Ec-Et=0.23 ev), and the capture cross section of the site for hole and electron capture (σp= 1.0×10-5 cm2, and σn≃4×10-15 cm2).
Evolution of the Human Diet: Linking Our Ancestral Diet to Modern Functional Foods as a Means of Chronic Disease Prevention (2009)

The evolution of the human diet over the past 10,000 years from a Paleolithic diet to our current modern pattern of intake has resulted in profound changes in feeding behavior. Shifts have occurred from diets high in fruits, vegetables, lean meats, and seafood to processed foods high in sodium and hydrogenated fats and low in fiber. These dietary changes have adversely affected dietary parameters known to be related to health, resulting in an increase in obesity and chronic disease, including cardiovascular disease (CVD), diabetes, and cancer. Some intervention trials using Paleolithic dietary patterns have shown promising results with favorable changes in CVD and diabetes risk factors. However, such benefits may be offset by disadvantages of the Paleolithic diet, which is low in vitamin D and calcium and high in fish potentially containing environmental toxins. More advantageous would be promotion of foods and food ingredients from our ancestral era that have been shown to possess health benefits in the form of functional foods. Many studies have investigated the health benefits of various functional food ingredients, including omega-3 fatty acids, polyphenols, fiber, and plant sterols. These bioactive compounds may help to prevent and reduce incidence of chronic diseases, which in turn could lead to health cost savings ranging from $2 to $3 billion per year as estimated by case studies using omega-3 and plant sterols as examples. Thus, public health benefits should result from promotion of the positive components of Paleolithic diets as functional foods.