gebhart/patrepeval huggingface dataset:
A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome (2017)

Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array-based copy number analysis in an 11-year-old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590 Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE-1s (L1s)-mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS.
Method of Culture of Human Cancer Cells with a Thermoresponsive Polymer and Dextran Sulfate. (1994)

A method for cell culture with a thermoresponsive polymer and dextran sulfate was developed. In the culture of human cancer cell lines, the polymer had no cytotoxicity and the cells attached, spread, and grew well on a substrate conjugated with type I collagen and the polymer. Use of different collagen : polymer ratios in the primary culture of cells from human cancer which had serially been transplanted into nude mice showed that the ratio of 2 : 1 gave satisfactory attachment and detachment of the cells. At each ratio tested, cell attachment was greater with type IV collagen than with type I collagen. When human cancer cells obtained from surgical specimens were cultured on type IV collagen-polymer substrate with a medium containing dextran sulfate (10μg/ml), the growth of contaminating fibroblasts was suppressed and the cancer cells proliferated. During subculture, the cancer cells detached from the primary culture on the type IV collagen-polymer substrate by treatment with ethyleneglycol bis (2-aminoethylether) tetraacetic acid and low-temperature treatment (at about 25°C) without trypsin, and the cells continued to proliferate. These observations suggest that culture with a type IV collagen-polymer substrate and a culture medium containing dextran sulfate is useful for establishment of human cancer cell lines.
Are Seismic Sources Too Loud? (2008)

If a seismic survey is performed twice in quick succession the two images will not be exactly the same. Part of the difference results from ambient noise and part is shot-generated. The shot-generated noise originates both from the previous shot and from perturbations to the acquisition, such as small differences in shot and receiver positions. Only if the ambient noise is higher than the shot-generated noise will increasing the source output improve the overall signal-to-noise ratio of the image. We used data from a repeated survey, together with ambient noise measurements, to determine the power spectra of the signal, the ambient noise and the shot-generated noise. We did these tests in both calm weather and poor weather. We show that, in this example, the noise in the seismic image is mostly shot-generated not ambient. This means that the signal-to-noise ratio of the image would be largely unaffected if the source power were reduced. In our test example, for most of the bandwidth, the seismic source is unnecessarily loud.
Synthesis and Magneto‐mechanical Properties of Ce‐TZP/La M‐Type Hexaferrite Composite (2002)

An in situ composite composed of ceria‐stabilized tetragonal zirconia polycrystals (Ce‐TZP) and La{Co 0.5 Fe 0.5 (Fe 0.9 Al 0.1 ) 11 }O 19 was synthesized from a powder mixture of Ce‐TZP, La(Fe 0.9 Al 0.1 )O 3 , Fe 2 O 3 , Al 2 O 3 , and CoO. The dense Ce‐TZP dispersed with platelike La{Co 0.5 Fe 0.5 (Fe 0.9 Al 0.1 ) 11 }O 19 crystals as a second phase were formed after sintering from 1250° to 1350°C. The saturation magnetization of the in situ composite Ce‐TZP/La{Co 0.5 Fe 0.5 (Fe 0.9 Al 0.1 ) 11 }O 19 was proportional to the mass fraction of the hexaferrite second phase in Ce‐TZP. The coercivity of the composite with a 20 mass% of second phase decreased from 9.14 to 2.52 kOe (from 728 to 201 kA/m) after the pulverization of the composite. The susceptibility (χ) increased by 15%–25% under uniaxial stress on the composite. The change of the susceptibility (Δχ/χ) value increased with decreasing the mass fraction of the second phase in the composite. The Δχ was found to increase linearly with applied stress and abruptly change on cracking, which is expected for the application in fracture sensing of the composite.
Applying the Principles of Deliberate Practice to Train Complex Aortic Root Surgery: Development of the Aortic Root Module of the Early Exposure and Assessment (EASE) Training Program (2020)

Objectives: Aortic root surgery has a significant learning curve. These procedures can be trained in simulations. The amount and intensity of “deliberate practice” is a predictor of expert-level performance in nonsurgical and surgical domains. Deliberate practice is characterized as purposeful, focused, and intense. It has the specific goal to improve performance. We developed an aortic root training curriculum applying the principles of deliberate practice.
UO‐Catalyzed Oligothioadenylate Synthesis with High Regio‐ and Stereoselectivity (1993)

Products with 2′-5′-linkages and Rp configurations result from the stereoselective UO-catalyzed oligomerization of the adenosine derivative 1, although the starting monomer was used as a mixture of diastereomers. The high regio-and stereoselectivity observed here is rarely encountered except in enzymatic reactions.
Structure and Interaction of Protamine by Dark Field Electron Microscopy (1976)

It has been shown for some time that it is possible to obtain images of small unstained proteins, with a resolution of approximately 5Å using dark field electron microscopy (1,2). Applying this technique, we have observed a uniformity in size and shape of the 2-dimensional images of pure specimens of fish protamines (salmon, herring (clupeine, Y-l) and rainbow trout (Salmo irideus)). On the basis of these images, a model for the 3-dimensional structure of the fish protamines has been proposed (2). The known amino acid sequences of fish protamines show stretches of positively charged arginines, separated by regions of neutral amino acids (3). The proposed model for protamine structure (2) consists of an irregular, right-handed helix with the segments of adjacent arginines forming the loops of the coil.
Mouse peritoneal cells confer an antiviral state on mouse cell monolayers: role of interferon (1986)

Vesicular stomatitis virus and encephalomyocarditis virus do not multiply in the majority of peritoneal macrophages freshly explanted from 4- to 8-week-old male or female mice. However, when peritoneal macrophages were cultivated in vitro for 3 to 5 days, these cells became permissive for both viruses. The loss of antiviral state in "aged" macrophages paralleled a significant decrease in the intracellular levels of (2'-5')oligo-adenylate synthetase activity. Although biologically active interferon was not detected in the nutrient medium of macrophage cultures, freshly harvested peritoneal cells could confer an antiviral state on monolayer cultures of mouse cells (aged macrophages, embryonic fibroblasts, and L cells) but not on heterologous chicken embryo, rabbit kidney, or human cells infected with vesicular stomatitis virus or encephalomyocarditis virus. The conferred antiviral state required at least 7 h to develop in target cells and was totally inhibited by the presence of antibody to mouse interferon alpha/beta but not to interferon gamma in the cocultures. Heterologous guinea pig and rabbit peritoneal cells could not transfer an antiviral state to target mouse cells. Donor peritoneal cells from mice preinjected with antibody to interferon alpha/beta could not transfer an antiviral state to target mouse cells. This ensemble of results indicating that freshly harvested peritoneal cells transfer interferon (which is responsible for inducing an antiviral state in susceptible mouse target cells) adds further experimental evidence that interferon is spontaneously expressed in normal mice and plays an important role in maintaining some host cells in an antiviral state.
The Effects of Iron Chelation and Hypoxic or Hyperoxic Oxygen Manipulation on the Accumulation/Photobleaching of Protoporphryin IX and Cytotoxcity in Human Glioma Cells (2013)

Background and objective: Gliomas remain the most common and problematic primary brain tumors to treat given their mobile and invasive characteristics, resulting in a 5 years survival rate of less than 5%. Recently the administration of photosensitive fluorescent drugs has been utilized to aid in the identification and resection of gliomas. In this experimental investigation of human glioma cells the effect of iron chelation and oxygenation manipulation, firstly on the accumulation of the clinically useful photosensitizer protoporphyrin IX (PpIX) and subsequently on PpIX photobleaching and cytotoxicity on irradiation, has been examined with the aim of improving fluorescence-guided resection/photodynamic therapy (PDT). Materials and methods: Cells were incubated at concentrations of 5%, 20% or 40% oxygen for 24 hours prior to and for 3 hours following the administration of the PpIX precursors aminolevulinic acid (ALA), methyl levulinate (MAL) or hexyl aminolevulinate (HAL) with or without the iron chelator 1,2-diethyl-3-hydroxypyridin-4-one hydrochloride (CP94). PpIX levels were monitored using a fluorescence plate reader (excitation filter 400 ± 30 nm; emission filter 645 ± 40 nm). Cells were irradiated with 15 J/cm2 red lights and viability measured using the neutral red uptake assay. Results: Manipulation of the oxygen environment and/or co administration of CP94 with PpIX precursors resulted in significant changes in both PpIX accumulation and photobleaching. Incubation with ALA/ MAL at 5% or 40% oxygen produced the greatest levels of PpIX and photobleaching respectively. Both these parameters were further elevated through co administration of CP94. The combination of hyperoxygenation and CP94 administration significantly increased photobleaching (a marker of PDT effect) but not cytotoxicity in this experimental system. Conclusions: PpIX accumulation was greatest when the cells were grown in hypoxic (5% oxygen) conditions (mimicking the in vivo situation) with ALA/MAL+CP94. Fluorescence-guided resection of glioma may therefore be improved through the addition of the iron chelating adjuvant CP94.
The dsg gene of Myxococcus xanthus encodes a protein similar to translation initiation factor IF3 (1994)

The dsg mutants of Myxococcus xanthus are defective in fruiting body development and sporulation, yet they grow normally. The deduced amino acid sequence of the dsg gene product is 50 and 51% identical to the amino acid sequence of translation initiation factor IF3 of both Escherichia coli and Bacillus stearothermophilus, respectively. However, the Dsg protein has a carboxy-terminal extension of 66 amino acids, which are absent from its E. coli and B. stearothermophilus homologs. The Shine-Dalgarno sequence GGAGG and 5 bases further upstream are identical in M. xanthus and several enteric bacteria, despite the wide phylogenetic gap between these species. The infC gene, which encodes IF3 in enteric bacteria, starts with the atypical translation initiation codon AUU, which is known to be important for regulating the cellular level of IF3 in E. coli. Translation of the Dsg protein overexpressed from the M. xanthus dsg gene in E. coli cells initiates at an AUC codon, an atypical initiation codon in the AUU class. The dsg mutants DK429 and DK439 carry the same missense mutation that changes Gly-134 to Glu in a region of amino acid identity.
A βPix–Pak2a signaling pathway regulates cerebral vascular stability in zebrafish (2007)

The vasculature tailors to the needs of different tissues and organs. Molecular, structural, and functional specializations are observed in different vascular beds, but few genetic models give insight into how these differences arise. We identify a unique cerebrovascular mutation in the zebrafish affecting the integrity of blood vessels supplying the brain. The zebrafish bubblehead (bbh) mutant exhibits hydrocephalus and severe cranial hemorrhage during early embryogenesis, whereas blood vessels in other regions of the embryo appear intact. Here we show that hemorrhages are associated with poor cerebral endothelial-mesenchymal contacts and an immature vascular pattern in the head. Positional cloning of bbh reveals a hypomorphic mutation in betaPix, a binding partner for the p21-activated kinase (Pak) and a guanine nucleotide exchange factor for Rac and Cdc42. betaPix is broadly expressed during embryonic development and is enriched in the brain and in large blood vessels. By knockdown of specific betaPix splice variants, we show that they play unique roles in embryonic vascular stabilization or hydrocephalus. Finally, we show that Pak2a signaling is downstream of betaPix. These data identify an essential in vivo role for betaPix and Pak2a during embryonic development and illuminate a previously unrecognized pathway specifically involved in cerebrovascular stabilization.
Radio-frequency sheaths (2011)

So far in this book on radio-frequency plasmas the properties of plasmas have been investigated in the absence of periodic time-dependent parameters or boundary conditions, therefore effectively in a DC steady state. In this chapter the restriction to DC conditions will be relaxed to prepare the ground for the discussion of plasmas that are sustained by radio-frequency (RF) power supplies. Although quantities such as electric fields and potentials then become a combination of steady and periodic values, there are many useful situations that appear to be (RF) steady states when viewed over many cycles – all relevant quantities exhibit coherent oscillations and identical conditions are reproduced within each cycle. When the plasma is sustained by a combination of volume ionization and surface loss, and the response of ions is restricted by their inertia, as is the case in many RF plasmas, the density structure of the plasma shows barely any temporal modulation. The ion space charge in sheath regions is similarly robust. That is, the density profile of the plasma and that of the ions in the sheath remain steady. However, because the electrons are much more mobile, they are able to respond virtually instantaneously, thereby changing the spatial extent of sheaths and quasi-neutral plasmas. The potential profile is related to the spatial distribution of charges through Gauss's law, and this will change in line with applied potentials and consequent rapid redistribution of electrons.
An improved multiple-locus variable-number of tandem repeat analysis (MLVA) for the fish pathogen Francisella noatunensis using capillary electrophoresis (2013)

The MLVA method presented here is robust, easy to perform and provides a good alternative to other typing systems for F. noatunensis subsp. noatunensis and epidemiological study of francisellosis in cod.
Laron Syndrome (1999)

In 1996, our group reported three siblings with clinical and biochemical features of growth hormone (GH) deficiency, but who had extremely high serum GH levels (1). Within two years, we were able to collect 22 patients (2) of Oriental Jewish descent.
Continuous ambulatory ECG monitoring during fluorouracil therapy: a prospective study. (1989)

Although there have been anecdotal reports of cardiac toxicity associated with fluorouracil (5-FU) therapy, this phenomenon has not been studied in a systematic fashion. We prospectively performed continuous ambulatory ECG monitoring on 25 patients undergoing 5-FU infusion for treatment of solid tumors in order to assess the incidence of ischemic ST changes. Patients were monitored for 23 +/- 4 hours before 5-FU infusion, and 98 +/- 9 hours during 5-FU infusion. Anginal episodes were rare: only one patient had angina (during 5-FU infusion). However, asymptomatic ST changes (greater than or equal to 1 mm ST deviation) were common: six of 25 patients (24%) had ST changes before 5-FU infusion v 17 (68%) during 5-FU infusion (P less than .002). The incidence of ischemic episodes per patient per hour was 0.05 +/- 0.02 prior to 5-FU infusion v 0.13 +/- 0.03 during 5-FU infusion (P less than .001); the duration of ECG changes was 0.6 +/- 0.3 minutes per patient per hour before 5-FU v 1.9 +/- 0.5 minutes per patient per hour during 5-FU (P less than .01). ECG changes were more common among patients with known coronary artery disease. There were two cases of sudden death, both of which occurred at the end of the chemotherapy course. We conclude that 5-FU infusion is associated with a significant increase in silent ST segment deviation suggestive of ischemia, particularly among patients with coronary artery disease. The mechanism and clinical significance of these ECG changes remain to be determined.
Experimental Testing and Analytical Modelling of Damage-Avoidance Steel Connections Using HF2V Damping Devices (2009)

Analytical modelling and model validation of high force-to-volume (HF2V) damping devices and a DAD non-dilating steel connection utilising these devices is presented.The 2D exterior connection design incorporates a top-hung angle for the beam-column connection and HF2V devices create a damage-free moment resisting connection.Experimental results show consistently repeatable hysteretic behaviour to 4% drift with neither stiffness nor strength degradation.The analytical model of the connection shows good agreement between experimental and model results.The ratedependent model defines overall hysteresis using a predictor-corrector solution to the governing non-linear ODE.Based entirely on rational mechanics, the model does not require prior experimental data for empirical calibration, enabling simultaneous design of the desired connection mechanics and energy dissipation, and the device requirements.
Active sites of the cyclic GMP phosphodiesterase γ‐subunit of retinal rod outer segments (1988)

Monoclonal antibodies were prepared to the gamma-subunit of the cGMP phosphodiesterase. One of them gamma p-1, suppresses the activation of phosphodiesterase through the alpha-subunit of transducin. The gamma-subunit fragment 24-45 rich in Arg and Lys residues is involved in gamma p-1 binding and is essential for the gamma-subunit interaction with transducin. Carboxypeptidase Y cleaves off seven amino acid residues from the C-terminus of the gamma-subunit resulting in phosphodiesterase activation. Thus, the C-terminal fragment of gamma-subunit participates in phosphodiesterase inhibition.
<i>In vivo</i> validation of a novel algorithm for automatic premature ventricular contractions recognition (2017)

Automated template matching had high specificity and sensitivity, with good spatial discrimination and a pace-mapping resolution in range of 2 mm. Clinical application of this algorithm may assist in the interventional treatment of patients with PVCs.
ChemInform Abstract: NEUE HARNSTOFF‐DERIVATE (1972)

Abstract Im Hinblick auf potentielle vasodilatatorische Eigenschaften wurden ausgehend von den Pyridylmethylaminen (I) durch Umsetzung mit Cyansäure bzw. Isocyanaten die Hanrstoff‐Derivate der Formel (II) hergestellt.
MAINTENANCE OF BODY TEMPERATURE OF RESTRAINED ADRENALECTOMIZED RATS EXPOSED TO COLD: EFFECT OF ADRENAL CORTICAL HORMONES (1956)

Experiments were performed to determine the role of the adrenal glands in the maintenance of colonic temperature of rats which were restrained and exposed to air at 5 °C. Colonic temperature decreased linearly with time in the cold air; hence, colonic cooling rate (CCR) was adopted as a measure of response to cold. Bilateral adrenalectomy increased CCR. Administration of cortisone acetate, adrenal cortical extract (ACE) or desoxycorticosterone acetate to adrenalectomized rats decreased CCR. Maximal decrease occurred with administration of 1.00 mgm. cortisone/rat/day or 0.25 ml. ACE/rat/day; higher doses of each hormone were less and less effective in returning CCR toward that of sham-operated rats. An adrenalectomized rat could not be rendered normal with respect to CCR no matter what dose of either ACE or cortisone was administered. In contrast, only the highest dose of DOCA administered (4.0 mgm./rat/day) significantly reduced CCR to that of sham-operated rats. The cooling test is similar to the standard growth test in that the response to administration of cortisone and ACE passes through a maximum and then declines with increasing dosage. The lower colonic temperature of adrenalectomized rats in air at 25 °C. was returned to that of sham-operated rats when cortisone (1.00 mgm. or more) or ACE (0.25 ml. or more) was administered; however, colonic temperature did not appear either to increase incrementally or to pass through a maximum with increasing doses of either hormone. DOCA had no effect on initial colonic temperature. Untreated adrenalectomized rats rarely survived lowering of colonic temperature to 22.5 °C; hence, the minimum colonic temperature to which adrenalectomized rats can be cooled and subsequently survive is considerably above that for normal rats (LD 50 15.3 °C). Administration of any of the above hormones increased survival even in those doses which did not affect CCR.
Mouse Mammary Tumor Virus (MMTV) Morphology in the Gastrointestinal Lumen of Suckling Mice (1985)

How the milk transmitted MMTV enters the organism is unclear. The site of entrance might be the epithelial cells of the enteric mucosa or the plaques of Peyer. The only ultras true tural study reported to date did not show viruses in the intestinal wall and hypothesized the absorption of a very small quantity of them. The electron microscopy study of the stomach and the small bowel of 8- to 10-day-old BALB/cfRIII suckling mice revealed some morphological changes of the B particles. Some of these changes were obtained in vitro by several means: swelling, breakage, bursting and the consequent release of nucleoids with angular profiles, dense cores, and the tendency to aggregate. Moreover, “head and tail” forms appear frequently as well as smaller B particles, with a diameter of about 800 A. These findings might be the expression of the denaturation of the B particles due to digestion or, at least in part, might represent a step in the absorption process of the MMTV.