gebhart/patrepeval huggingface dataset:
Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization (1997)

Alagille syndrome is an autosomal dominant disorder comprising cholestasis (associated with intrahepatic bile duct paucity), characteristic facial appearance, and cardiac, ocular and skeletal defects. Multiple patients have been reported with deletions or translocation involving 20p11.23-p12, providing evidence for the localization of the disease gene to this region. Fifty-six Alagille syndrome patients have been studied by cytogenetic and/or molecular analysis to determine the frequency of detectable abnormalities of 20p12. Two of fifty-six patients studied by cytogenetic analysis had abnormalities: an interstitial deletion in one patient and a translocation in another. Of forty-five patients studied by molecular analysis, three were found to have deletions of 20p, including the two patients identified with cytogenetic abnormalities. Molecular and molecular cytogenetic (FISH) analysis of the translocation (46,XX,t(2;20)(q21.3p12)) demonstrated a deletion at the translocation breakpoint. The deletions identified in the three patients are overlapping, contributing to the delineation of an Alagille syndrome critical region within 20p12. This region lies between markers D20S41 and D20S162. The frequency of detectable cytogenetic abnormalities of 20p12 in this group of Alagille patients is 2/56 (3.6%), and the frequency of molecular deletions is 3/45 (6.7%). This is considerably lower than the frequency of deletions observed in contiguous gene deletion syndromes suggesting that Alagille syndrome may be caused by the alteration of a single gene. Am. J. Med. Genet. 70:80–86, 1997. © 1997 Wiley-Liss, Inc.
Integration of language and sensor information (2003)

The talk describes the development of basic technologies of intelligent systems fusing data from multiple domains and leading to automated computational techniques for understanding data contents. Understanding involves inferring appropriate decisions and recommending proper actions, which in turn requires fusion of data and knowledge about objects, situations, and actions. Data might include sensory data, verbal reports, intelligence intercepts, or public records, whereas knowledge ought to encompass the whole range of objects, situations, people and their behavior, and knowledge of languages. In the past, a fundamental difficulty in combining knowledge with data was the combinatorial complexity of computations, too many combinations of data and knowledge pieces had to be evaluated. Recent progress in understanding of natural intelligent systems, including the human mind, leads to the development of neurophysiologically motivated architectures for solving these challenging problems, in particular the role of emotional neural signals in overcoming combinatorial complexity of old logic-based approaches. Whereas past approaches based on logic tended to identify logic with language and thinking, recent studies in cognitive linguistics have led to appreciation of more complicated nature of linguistic models. Little is known about the details of the brain mechanisms integrating language and thinking. Understanding and fusion of linguistic information with sensory data represent a novel challenging aspect of the development of integrated fusion systems. The presentation will describe a non-combinatorial approach to this problem and outline techniques that can be used for fusing diverse and uncertain knowledge with sensory and linguistic data.
An Innovative Wound Retractor/Protector for Prosthetic Urologic Surgery (2013)

Our experience shows that prosthetic urologic surgeries can be enhanced with the use of the self-retaining ring wound retractor as it provides better surgical exposure, lowers wound infection risks, sets up more quickly as a safer retraction system with substantial cost savings.
Performance Evaluation and Challenges Using Open Hole Multistage Fracturing Completion to Develop Tight Gas Reservoirs in Saudi Arabia (2014)

Abstract A low permeability gas condensate carbonate reservoir in the Khuff formation is one of the main producing reservoirs in Field-A in Saudi Arabia. This early Triassic carbonate reservoir, first discovered in 1980, holds significant gas-in-place but is a blend of conventional and tight intervals. Vertical completions, horizontal wells with maximum reservoir contacts, and acid stimulation (matrix and fracturing) are some of the current practices to effectively develop the reserves from the tighter intervals. In late 2009, the open hole horizontal multistage fracturing (OHMSF) completion assemblies were deployed in several horizontal wells in the tight gas area with the goal of achieving multiple independent hydraulic fractures, greater acid stimulation efficiency, and thereby enhancing well productivity. The OHMSF systems enable the open hole section to be divided into segments based on the reservoir's petrophysical and flow properties by the use of mechanical open hole isolation packers and customizing the stimulation treatment for each segment via fracturing ports that are installed in between the packer assemblies. Since the inception of OHMFS, many wells were treated and varying results were obtained. The results are dependent not only on reservoir quality and development, but also on the placement of the fracturing ports, number of fracture stages conducted, and fracturing strategy. This paper provides insight into the planning, challenges encountered, sensitivity analysis and performance analysis of the OHMSF wells in comparison with non-OHMSF wells. It also details several case histories and highlights the results as well as lessons learned that can be applied in the future to improve the recovery.
Cobalt (III)-EDTA dissociates and chromium (III)-EDTA is slightly more stable under in vitro reducing conditions comparable to those in the rumen (2020)

Ideal digesta markers used for feeding studies are inert, unabsorbable, and move with the digesta they are intended to mark. Both chromium (III) and cobalt (III) salts of EDTA (CrEDTA and CoEDTA, respectively) are used as markers of liquid digesta in dairy cattle research. A small portion is absorbed and excreted in urine, but the markers are assumed to remain unreactive and as inert salts in the digesta and animal. The degree to which these colored salts remain bound in solution can be estimated through spectrophotometric measurement at their wavelength (λ) of peak absorbance. The objective of this in vitro study was to evaluate whether CrEDTA and CoEDTA dissociate under reducing conditions that could be experienced in the rumen. In a completely randomized design with 2 replicate analytical runs and samples in duplicate within run, approximately 26 mg/L Cr from CrEDTA or Co from CoEDTA was incubated in a 26-mL reaction volume containing 20 mL of Goering and Van Soest medium without tryptone, 3 mL of CoEDTA or CrEDTA solutions, or water (reagent blanks), and 3.0 mL of a combination of distilled water with 0, 0.25, 0.50, 0.75, or 1.00 mL of reducing solution (RedSol). After incubation for 0.5 h at 39°C, absorbance was read at λ = 535, 465, and 560 nm, the peak λ for EDTA salts of Co(III), Co(II), and Cr(III), respectively. Mean reagent blank values were subtracted from CoEDTA and CrEDTA data. The absorbance data at peak λ were analyzed by marker in models that included RedSol with analytical run as a random variable. Contrasts were used to detect linear through quartic effects of RedSol. Samples with RedSol had redox potentials of -250 to -328 mV, which are within the range of reported ruminal measures. As RedSol increased, CoEDTA showed a linear decline of 75% in ABS at 535 nm and a quadratic 4-fold increase followed by a 60% decline at 465 nm. These responses indicate a reduction of Co(III) to Co(II) and subsequent dissociation of Co(II)EDTA. The absorbance of CrEDTA at 560 nm showed a tendency for an 8% linear decrease as RedSol increased. Wavescans from λ = 330 to 700 nm showed CrEDTA retaining its characteristic 2-peak pattern as RedSol increased, whereas CoEDTA curves deformed entirely. We conclude that CoEDTA is not a stable, inert digesta marker under reducing conditions achievable in the rumen and is therefore unsuitable for use in studies with ruminants. Reexamination of the suitability of available liquid digesta markers is advised.
Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome? (2020)

A 74-year-old woman with Carney complex (CNC) and complaints of poor vision was found, on ophthalmic examination, to have a pigmented tumor involving the peripheral choroid and ciliary body in her right eye. The eye was enucleated and showed a ciliochoroidal melanoma with marked pleomorphism. The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of <i>CNC2</i>at 2p16), 14, 17 (including loss of a copy of <i>PRAKA1</i> at 17q24.2), 18, 19, 21, 22, and X. No monosomy 3 was observed. This is only the second case of uveal melanoma in a patient with CNC, raising the possibility that this might represent a rare component of this syndrome.
30 GHz second-harmonic cusp-gun gyro-TWT amplifier (2002)

A 30 GHz second-harmonic TE/sub 21/ gyro-TWT amplifier is being constructed at UCD that will be driven by a 70 kV, 3.5 A, v/sub /spl perp///v/sub z/=1.2, /spl Delta/v/sub z//v/sub z/=7%, axis-encircling electron beam from a Northrop Grumman cusp gun. The single-stage amplifier is predicted by a large-signal simulation code to generate 50 kW at 30 GHz with 20% efficiency, 32 dB saturated gain and 3% constant-drive bandwidth.
A Novel “Nihon'’Rat Model of a Mendelian Dominantly Inherited Renal Cell Carcinoma (2000)

A novel rat model of hereditary renal cell carcinoma (RC) was found in a rat colony of the Sprague-Dawley strain in Japan, and named the rising "Nihon" rat. In this strain, RCs develop from early preneoplastic lesions, which begin to appear at 4 weeks of age, forming adenomas by the age of 16 weeks. The RCs are predominantly of clear cell type. Southern blot, northern blot and SSCP analyses revealed no change in the Tsc1, Tsc2, VHL, and c-Met genes. Thus, the Nihon rat should be a valuable experimental model for understanding renal carcinogenesis, especially clear cell type, which is common among human RCs.
Multidrug transporter proteins and cellular factors involved in free and mAb linked calicheamicin-γ1 (gentuzumab ozogamicin, GO) resistance and in the selection of GO resistant variants of the HL60 AML cell line (2010)

In this study we elucidated the role of ATP-binding cassette (ABC) multi-drug transporter proteins and cellular factors such as Bcl-2 expression and CD33 down-modulation contributing to free and hP67.6 mAb linked calicheamicin-gamma1 (CalC-gamma1) resistance. We analyzed in a well designed HL60 cell system the relationship between the expression of ABC proteins, Bcl-2 and CD33 modulation with the activity of free and mAb-linked CalC-gamma1. The results herein reported and discussed, strongly suggest that both MDR1-Pgp and MRP1 efflux systems are engaged by CalC-gamma1, but only MDR1-Pgp over-expression efficiently abrogates drug cytotoxicity in MDR cells. Paradoxically, Bcl-2 expression, as observed for other anticancer compounds belonging to the enediyne family of drugs, confers CalC-gamma1 susceptibility rather than resistance in HL60 cells. Further, the isolation of a resistant HL60 subline (HL60AL) that was developed by exposing the parental sensitive cells to sub-effective doses of gemtuzumab ozogamicin (GO) over an extended period of time shows a reduced level of CD33 expression that represents an important escape mechanism of HL60 MDR cells to the cytotoxic effect of GO.
Morphology and activity of nanosized NdCl<sub>3</sub> catalyst for 1,3‐butadiene polymerization (2005)

Abstract The binary lanthanide catalyst for 1,3‐butadiene was invented for 40 years ago. However, it has not been employed in commercial application due to its poor solubility and low activity. Nanosized neodymium chloride (NdCl 3 ) was prepared in tetrahydrofuran (THF) medium through dissolution, chelation, and colloidal formation steps. Anhydrous NdCl 3 was dissolved in THF, and ca. 1.5 THF molecules were coordinated. In the colloidal formation step, THF was slowly replaced with the addition of cyclohexane, and pale blue nuclei, nanosize below 200 nm, were formed. The structural studies for NdCl 3 · x THF using X‐ray powder diffraction (XRD) and scanning electron microscope (SEM) indicate that high ordered crystallinity is decreased with reduced particle size from trigonal prismatic to porous sphere structure. Nano NdCl 3 , obtained as colloidal state in cyclohexane, was activated with Al(iBu) 3 and Al(iBu) 2 H at room temperature and employed for 1,3‐butadiene solution polymerization. The nanosized Nd catalysts showed high activity (1.0 ∼ 1.3 × 10 5 g/Nd mol · h), which is comparable to that of the ternary neodymium catalyst Nd(neodecanoate) 3 /AlEt 2 Cl/Al(iBu) 3 . The microstructures of polybutadiene, cis, trans, and vinyl, are about 96.0, 3.5, and 0.5%, respectively. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 97: 1279–1283, 2005
Medical diagnosis using influence diagrams (1990)

Abstract Influence diagrams are used to illustrate how the probability of having a disease can be updated given the results from two or more clinical tests. The problem of calibrating a register using results from a survey, as discussed by Heldal and Spjøtvoll (1988), is solved using a Bayesian approach.
New results in NPID control: Tracking, integral control, friction compensation and experimental results (2001)

Nonlinear proportional-integral-derivative (NPID) control is implemented by varying the controller gains as a function of system state. NPID control has been previously described and implemented, and recently a constructive Lyapunov stability proof has been given. Here, NPID control analysis and design methods are extended to tracking, and to systems with state feedback and integral control. Experimental results are presented showing improved tracking accuracy and friction compensation by NPID control.
Quantification of Fat Mobilization in Patients Undergoing Coronary Artery Revascularization Using Off-pump and On-pump Techniques (2006)

Fat mobilization during cardiopulmonary bypass (CPB) is a recognized risk of the procedure. Intravascular mobilization of fat emboli subsequent to CPB has been implicated in some of its recognized pathophysiologies, particularly with regard to cerebral embolic injury. The aim of this study was to investigate whether fat mobilization is still a real issue in modern perfusion practice and to determine whether off pump coronary artery bypass techniques minimize this risk. Thirty patients undergoing routine elective coronary artery bypass graft (CABG) surgery were divided into two groups. Group 1 patients underwent off pump coronary artery bypass (OPCAB) procedures, and group 2 underwent CABG supported with CPB. Blood samples were taken from the CPB patients at the beginning, middle, and end of the procedure, from the suction line, from the arterial line, and from the venous line for measurement of fat emboli present. Samples were taken at corresponding time-points from the OPCAB patients for similar measurements. Fat emboli were counted manually using Oil red O staining and light microscopy. The fat emboli were sized using calibrated microspheres as a visual size contrast. No fat emboli were observed in any of the blood samples taken from the OPCAB patients. There were fat emboli present in all samples taken during CPB from all sources. The count was highest in the suction system and lowest in the venous blood and tended to increase during CPB. There was an absence of large fat emboli in the venous blood, which tends to indicate that the larger fat emboli lodge in the microvasculature. OPCAB surgery eliminates the risk of fat embolization in patients undergoing coronary revascularization. The suction system is the major source of fat emboli during CPB, and despite the multiple filtration components of the CPB system, fat emboli of various and significant sizes do reach the patient. Fat embolization remains a risk in routine elective CABG surgery. Cardiotomy suction should be eliminated where possible.
BRAF inhibition in melanoma is associated with the dysregulation of histone methylation and histone methyltransferases (2020)

The development of mutant BRAF inhibitors has improved the outcome for melanoma patients with BRAF<sup>V600E</sup> mutations. Although the initial response to these inhibitors can be dramatic, sometimes resulting in complete tumor regression, the majority of melanomas become resistant. To study resistance to BRAF inhibition, we developed a novel mouse model of melanoma using a tetracycline/doxycycline-regulated system that permits control of mutant BRAF expression. Treatment with doxycycline leads to loss of mutant BRAF expression and tumor regression, but tumors recur after a prolonged period of response to treatment. Vemurafenib, encorafenib and dabrafenib induce cell cycle arrest and apoptosis in BRAF melanoma cell lines; however, a residual population of tumor cells survive. Comparing gene expression in human cell lines and mouse tumors can assist with the identification of novel mechanisms of resistance. Accordingly, we conducted RNA sequencing analysis and immunoblotting on untreated and doxycycline-treated dormant mouse melanomas and human mutant BRAF melanoma cell lines treated with 2 μM vemurafenib for 20 days. We found conserved expression changes in histone methyltransferase genes ASH2, EZH2, PRMT5, SUV39H1, SUV39H2, and SYMD2 in P-ERK low, p-38 high melanoma cells following prolonged BRAF inhibition. Quantitative mass spectrometry, determined a corresponding reduction in histone Lys9 and Lys27 methylation and increase in Lys36 methylation in melanoma cell lines treated with 2 μM vemurafenib for 20 days. Thus, these changes as are part of the initiate response to BRAF inhibition and likely contribute to the survival of melanoma cells.
Low Frequency of Cytotoxic T Lymphocytes against the Novel HLA-A*0201-Restricted JC Virus Epitope VP1<sub>p36</sub>in Patients with Proven or Possible Progressive Multifocal Leukoencephalopathy (2003)

JC virus (JCV)-specific cytotoxic T lymphocytes (CTL) in peripheral blood are associated with a favorable outcome in patients with progressive multifocal leukoencephalopathy (PML). However, the frequency of these cells in the peripheral blood mononuclear cells (PBMC) of PML patients is unknown. To develop a highly sensitive assay for detecting the cellular immune response against this virus, we performed a CTL epitope mapping study of JCV VP1 major capsid protein by using overlapping peptides. A novel HLA-A*0201-restricted epitope, the VP1(p36) peptide SITEVECFL, was characterized. The cellular immune response against JCV was assessed in 32 study subjects. By combining the results of the (51)Cr release assay on pooled peptides and staining with the HLA-A*0201/JCV VP1(p36) tetramer, VP1-specific CTL were detected in 10 of 11 PML survivors (91%) versus only 1 of 11 PML progressors (9%, P = 0.0003). VP1-specific CTL were also detected in two of two patients recently diagnosed with PML and in four of four human immunodeficiency virus-positive patients with possible PML. The frequency of CTL specific for the novel VP1(p36) and the previously described VP1(p100) epitopes was determined. In two patients, the frequency of CTL specific for the VP1(p36) or VP1(p100) epitopes, as determined by fresh blood tetramer staining (FBTS), ranged from 1/6,000 to 1/24,000 PBMC. A CTL sorting technique combining tetramer staining and selection with immunomagnetic beads allowed the detection of epitope-specific CTL in two cases that were determined to be negative by FBTS. The phenotype of these CTL in vivo was consistent with activated memory cells. These data suggest that, although present in low numbers, JCV-specific CTL may be of central importance in the containment of JCV spread in immunosuppressed individuals.
Speech processing in the watermarked domain: application in adaptive acoustic echo cancellation (2006)

International audience
Orthostatic tremor: report of two cases and an electrophysiological study (1989)

Two patients with legs tremor present on standing, but none on walking or sitting, are reported. Tremor was not exclusive or orthostatism and was also evoked by strong tonic contraction of leg muscles. Synchronous EMG bursts were recorded in antagonistic muscle groups at 8-10 Hz in the first patient and at 16 Hz in the second. EMG activity was synchronous in corresponding muscles of both legs. The occurrence of EMG activity was not influenced by stimulation of nerve afferent fibers. We suggest that this movement disorder may be an exaggeration of physiological tremor due to synchronization of motor units by spontaneous oscillations in central structures.
Vasopressin in patients with obstructive sleep apnoea syndrome – An interventional, case-control study (2014)

Background Hypoxia, sympathetic activation, vascular endothelial dysfunction, metabolic dysregulation, oxidative stress as well as inflammation play a role in the development of cardiovascular disease in OSAS and are related to the release of vasopressin (AVP). We hypothesize that AVP might serve as a potential proxy for prognosis and therapy response in OSAS. Methods 289 patients with suspicion of OSAS undergoing a diagnostic work-up were included in this prospective, interventional, longitudinal, case-control study. The primary endpoint was the change in AVP levels after 1 month of CPAP treatment. Secondary endpoints included 1) circulating AVP levels before treatment and after 1 and 6 months of treatment respectively; 2) change in circulating AVP levels after 1 night and 6 months of CPAP treatment respectively; 3) assessment of endpoints in subgroups of patients according to OSAS severity. Results 243 patients with OSAS (age 55.0 ± 13.0 years, 77.8 % male, BMI 31.2 ± 5.6) and 46 controls without OSAS (age 51.2 ± 14.2 years, 50 % male, BMI 30.7 ± 5.8) were analysed. Mean ODI of patients with OSAS was 18 / h ± 15, mean AHI was 17 / h ± 15. 87.9 % of patients with OSAS started cPAP therapy. After 1 month, 85.1 % of patients with OSAS were on cPAP therapy. There was no significant difference in the slope of change of the AVP level between patients and controls and between OSAS patients with or without CPAP therapy. After adjustment for severity of OSAS, comorbidities and duration of CPAP therapy in minutes the differences remained non-statistically significant. Conclusions Vasopressin cannot be used as a proxy for prognosis and therapy response in obstructive sleep apnoea syndrome.
Two‐scale ion meandering caused by the polarization electric field during asymmetric reconnection (2016)

Abstract Ion velocity distribution functions (VDFs) from a particle‐in‐cell simulation of asymmetric reconnection are investigated to reveal a two‐scale structure of the ion diffusion region (IDR). Ions bouncing in the inner IDR are trapped mainly by the electric field normal to the current sheet ( N direction), while those reaching the outer IDR are turned back mainly by the magnetic force. The resulting inner layer VDFs have counter‐streaming populations along N with decreasing counter‐streaming speeds away from the midplane while maintaining the out‐of‐plane speed, and the outer layer VDFs exhibit crescent shapes toward the out‐of‐plane direction. Observations of the above VDF features and the normal electric fields provide evidence for the two‐scale meandering motion.