gebhart/patrepeval huggingface dataset:
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease (2017)

Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only report on chromosomes 21, 18, 13, X, and Y; sequencing results from other chromosomes may be masked. We hypothesized that by systematically analyzing WGS data from all chromosomes, we could identify rare autosomal trisomies (RATs) to improve understanding of feto-placental biology. We analyzed two independent cohorts from clinical laboratories, both of which used a similar quality control parameter, normalized chromosome denominator quality. The entire data set included 89,817 samples. Samples flagged for analysis and classified as abnormal were 328 of 72,932 (0.45%) and 71 of 16,885 (0.42%) in cohorts 1 and 2, respectively. Clinical outcome data were available for 57 of 71 (80%) of abnormal cases in cohort 2. Visual analysis of WGS data demonstrated RATs, copy number variants, and extensive genome-wide imbalances. Trisomies 7, 15, 16, and 22 were the most frequently observed RATs in both cohorts. Cytogenetic or pregnancy outcome data were available in 52 of 60 (87%) of cases with RATs in cohort 2. Cases with RATs detected were associated with miscarriage, true fetal mosaicism, and confirmed or suspected uniparental disomy. Comparing the trisomic fraction with the fetal fraction allowed estimation of possible mosaicism. Analysis and reporting of aneuploidies in all chromosomes can clarify cases in which cfDNA findings on selected "target" chromosomes (21, 18, and 13) are discordant with the fetal karyotype and may identify pregnancies at risk of miscarriage and other complications.
Structural characteristics of .alpha.-helical peptide molecules containing Aib residues (1990)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTStructural characteristics of .alpha.-helical peptide molecules containing Aib residuesIsabella L. Karle and Padmanabhan BalaramCite this: Biochemistry 1990, 29, 29, 6747–6756Publication Date (Print):July 24, 1990Publication History Published online1 May 2002Published inissue 24 July 1990https://pubs.acs.org/doi/10.1021/bi00481a001https://doi.org/10.1021/bi00481a001research-articleACS PublicationsRequest reuse permissionsArticle Views1713Altmetric-Citations889LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
The maintenance of specific aspects of neuronal function and behavior is dependent on programmed cell death of adult‐generated neurons in the dentate gyrus (2009)

A considerable number of new neurons are generated daily in the dentate gyrus (DG) of the adult hippocampus, but only a subset of these survive, as many adult-generated neurons undergo programmed cell death (PCD). However, the significance of PCD in the adult brain for the functionality of DG circuits is not known. Here, we examined the electrophysiological and behavioral characteristics of Bax-knockout (Bax-KO) mice in which PCD of post-mitotic neurons is prevented. The continuous increase in DG cell numbers in Bax-KO mice resulted in the readjustment of afferent and efferent synaptic connections, represented by age-dependent reductions in the dendritic arborization of DG neurons and in the synaptic contact ratio of mossy fibers with CA3 dendritic spines. These neuroanatomical changes were associated with reductions in synaptic transmission and reduced performance in a contextual fear memory task in 6-month-old Bax-KO mice. These results suggest that the elimination of excess DG neurons via Bax-dependent PCD in the adult brain is required for the normal organization and function of the hippocampus.
Identification of an Alternatively Spliced Seprase mRNA That Encodes a Novel Intracellular Isoform (2000)

Seprase is a homodimeric 170-kDa integral membrane gelatinase that is related to the ectoenzyme dipeptidyl peptidase IV. We have identified an alternatively spliced seprase messenger from the human melanoma cell line LOX that encodes a novel truncated isoform, seprase-s. The splice variant mRNA is generated by an out-of-frame deletion of a 1223-base pair exonic region that encodes part of the cytoplasmic tail, transmembrane, and the membrane proximal-central regions of the extracellular domain (Val(5) through Ser(412)) of the seprase 97-kDa subunit (seprase-l). The seprase-s mRNA has an elongated 5' leader (548 nucleotides) that harbors at least two upstream open reading frames that inhibit seprase-s expression from a downstream major open reading frame. Deletion mutagenesis of the wild type splice variant cDNA confirms that initiation of the seprase-s coding sequence begins with an ATG codon that corresponds to Met(522) of seprase-l. The seprase-s open reading frame encodes a 239-amino acid polypeptide with an M(r) approximately 27,000 that precisely overlaps the carboxyl-terminal catalytic region of seprase-l.
Extracellular Toxins of Pseudomonas aeruginosa (1974)

Pseudomonas aeruginosa produces a large number of extracellular toxins, which include phytotoxic factor, pigments, hydrocyanic acid, proteolytic enzymes, phospholipase, enterotoxin, exotoxin, and slime. The most important factor in the pathogenicity of P. aeruginosa is the elaboration of a group of protein exotoxins. These exotoxins can produce leukopenia, acidosis, circulatory collapse, necrosis of liver, pulmonary edema, hemorrhage, and tubular necrosis of kidneys. Passive administration of antitoxic sera against these exotoxins is able to protect against lethal infections with P. aeruginosa in the absence of antibody against the cellular antigens. The proteolytic enzymes produced by P. aeruginosa are responsible for the hemorrhagic and necrotic changes in the skin, as well as destruction of the cornea in eye infections. Phospholipase may be responsible for destruction of pulmonary surfactant with resultant atelectasis. This effect, together with the necrosis of lung tissue, may be important in the pathogenesis of the damage to lungs in the patients with pneumonia due to Pseudomonas. Strains of P. aeruginosa are capable of producing an enterotoxin that is probably responsible for diarrheal diseases.
Analysis of amino acids by combination of carrier ampholyte‐free IEF with ITP (2007)

The use of carrier ampholyte-free IEF (CAF-IEF) with ITP mobilization and conductivity detection in ITP mode for preconcentration and analysis of amino acids is demonstrated. The analytical procedure consists of three subsequent steps. In the first step, amino acids are continuously dosed from an infinite volume reservoir by electromigration to the column, where a sharp, stationary neutralization reaction boundary (NRB) is created in between acidic and basic primary electrolyte. Here, amino acids are selectively focused (trapped), if their pI falls to the pH difference on both sides of the NRB (pH gap). Amino acids create sharp rectangular zones, arranged according to their pI values. In the second step, focused zones are mobilized. After accumulation of the detectable amount of amino acids, dosing electrolyte in the infinite volume reservoir is changed for the mobilizing electrolyte. The migration mode is changed from CAF-IEF to ITP and substances start to migrate toward the analytical capillary. In the third step, analytes are transferred into the analytical column equipped with a conductivity detector and are detected in the new leading electrolyte in an ITP migration mode. The presented CAF-IEF-ITP-ITP with time-dependent accumulation of the large-volume sample enables to achieve in a reasonable time a 100 times lower c-LOD (here in orders of nmol/L), than can be reached by conventional hyphenated ITP-ITP.
Monolithic micro-coaxial power dividers (2009)

A three-port, 450 µm tall, monolithic rectangular coaxial power divider is introduced. The device is fabricated by a surface micromachining process with six sequentially deposited copper layers with thicknesses of 50 and 100 µm. The divider has an overall loss of 0.2 dB at 30 GHz, the input port return loss is better than 10 dB and the output amplitude and phase misbalances are ±0.35 dB and ±2.2°, respectively, from 20 to 40 GHz. The device is designed in a way that permits straightforward realisation of a Wilkinson divider with integrated resistor.
2QF: A New Replacement Algorithm for Ro-RAT System (2009)

Tape is used widely in high reliability storage system. This paper introduces a storage system named Ro-RAT (Read only RAID-Tape-Library) which can be used in geological exploration storage. Tape is used as storage medium in Ro-RAT. Due to the sequence access to tape devices, a disk cache is used to reduce access time. Base on the study of the accessing characteristic, a new replacement algorithm called 2Q/F is introduced. The cache objects in 2Q/F are files, compared to pages in 2Q. As the files have different length, 2Q/F considers not only the access frequency of cache objects but also the size. To evaluate the performance of 2Q/F algorithm, trace-driven simulation experiments were taken. Compared to LRU and 2Q, 2Q/F improves hit rate for about 15% in Ro-RAT system.
Adaptive global visibility sampling (2009)

In this paper we propose a global visibility algorithm which computes from-region visibility for all view cells simultaneously in a progressive manner. We cast rays to sample visibility interactions and use the information carried by a ray for all view cells it intersects. The main contribution of the paper is a set of adaptive sampling strategies based on ray mutations that exploit the spatial coherence of visibility. Our method achieves more than an order of magnitude speedup compared to per-view cell sampling. This provides a practical solution to visibility preprocessing and also enables a new type of interactive visibility analysis application, where it is possible to quickly inspect and modify a coarse global visibility solution that is constantly refined.
Testosterone replacement therapy improves mood in hypogonadal men--a clinical research center study. (1996)

The effect of testosterone (T) replacement on changes in mood was studied for 60 days in 51 hypogonadal men. All patients were withdrawn from their prior T replacement for at least 6 weeks before enrollment. Of these patients, 18 received T enanthate 200 mg im every 20 days, 16 received sublingual T cyclodextrin (SLT) at a dose of 2.5 mg three times daily, and 17 received SLT at a dose of 5.0 mg three times daily. The total treatment period was 60 days. The patients were asked to respond to a questionnaire on 7 consecutive days before the start of treatment and on 7 consecutive days before their visits to the clinic on days 21, 41, and 60 of treatment. The following mood parameters were assessed using a 7-point Likert rating scale: angry, alert, irritable, full of pep (energy), sad/blue, tired, friendly, nervous, and well/good. When compared with the baseline period, T replacement led to significant decreases in anger (P = 0.0045), irritability (P = 0.0009), sadness (P = 0.0033), tiredness (P = 0.0035), and nervousness (P = 0.0291), and significant improvement in energy level (P = 0.0020), friendliness (P = 0.0072), and sense of well-being (P = 0.024) in all subjects as a group. Analyses of the area under the curve (AUC) of baseline serum T levels before T replacement showed significant positive correlations between serum T (AUC) and friendliness (r = 0.29, P < 0.05) and sense of well-being (r = 0.27, P < 0.05), and significant negative correlations with nervousness (r = -0.27, P < 0.05), irritability (r = -0.29, P < 0.05) and tiredness (r = -0.28, P < 0.05). Similar correlations were found between serum dihydrotestosterone (DHT) and some of the mood parameters. After T replacement in the hypogonadal men, these correlations between AUC of serum T levels and the positive and negative mood scores disappeared. These results were corroborated in a subsequent study in which 30 hypogonadal men were supplemented with SLT 5 mg three times daily for 6 months. The patients were less nervous (P = 0.0025) and more alert (P = 0.0004), friendly (P = 0.042), and energetic (P = 0.0001) during the 6-month treatment period compared with baseline. We conclude that T replacement therapy in hypogonadal men improved their positive mood parameters, such as energy, well/good feelings, and friendliness and decreased negative mood parameters including anger, nervousness, and irritability, and direct correlations between serum T and DHT with mood scores were only observed in the baseline period when serum androgen levels were below the normal range. The latter observation suggests that once a minimally adequate serum T/DHT level was achieved by T replacement therapy, further increases in serum T/DHT levels did not further contribute to the improvement in mood variables.
Efficacy of a Modified Polymerase Chain Reaction Assay for Detection of Ehrlichia Canis infection (2000)

Detection of Ehrlichia canis in acutely infected and convalescent dogs is important for effective treatment and control. However, accurate detection has been difficult to achieve, in part because dogs that have been treated therapeutically often remain seropositive for extended periods. A new method, polymerase chain reaction (PCR) assay using biotinylated E. canis-specific primers (PCR-BP), was developed for detection of E. canis. Four dogs experimentally infected with E. canis by intravenous inoculation of whole blood from carrier dogs and 2 naturally infected convalescent carriers were used to compare the specificity and sensitivity of the new method with that of microscopy/blood smear evaluation, serologic test, and conventional PCR assay using E. canis-specific primers. In experimentally infected animals, infection was detected as early as 7 days post-exposure using PCR-BP. Although the 2 naturally infected dogs were positive by serologic test and PCR-BP, both were negative by conventional PCR. Results suggest that the new method is a sensitive assay for detection of E. canis infection. In addition, results were obtained more rapidly than with other PCR-based assays.
Automatic Extraction of Man-Made Objects from Aerial and Space Images (II) (1997)

Advancements in digital sensor technology, digital image analysis techniques, as well as computer software and hardware have brought together the fields of computer vision and photogrammetry, which ar
Wound healing activity of the human antimicrobial peptide LL37 (2011)

Antimicrobial peptides (AMPs) are part of the innate immune system and are generally defined as cationic, amphipathic peptides, with less than 50 amino acids, including multiple arginine and lysine residues. The human cathelicidin antimicrobial peptide LL37 can be found at different concentrations in many different cells, tissues and body fluids and has a broad spectrum of antimicrobial and immunomodulatory activities. The healing of wound is a complex process that involves different steps: hemostasis, inflammation, remodeling/granulation tissue formation and re-epithelialization. Inflammation and angiogenesis are two fundamental physiological conditions implicated in this process. We have recently developed a new method for the expression and purification of recombinant LL37. In this work, we show that the recombinant peptide P-LL37 with a N-terminus proline preserves its immunophysiological properties in vitro and in vivo. P-LL37 neutralized the activation of macrophages by lipopolysaccharide (LPS). Besides, the peptide induced proliferation, migration and tubule-like structures formation by endothelial cells. Wound healing experiments were performed in dexamethasone-treated mice to study the effect of LL37 on angiogenesis and wound regeneration. The topical application of synthetic and recombinant LL37 increased vascularization and re-epithelialization. Taken together, these results clearly demonstrate that LL37 may have a key role in wound regeneration through vascularization.
<title>Image intensifier-based volume tomographic angiography imaging system: system evaluation</title> (1996)

An image intensifier-based rotational volume tomographic angiography imaging system has been constructed. The system consists of an x-ray tube and an image intensifier that are separately mounted on a gantry. This system uses an image intensifier coupled to a charge coupled device (CCD) camera as a two-dimensional detector so that a set of two-dimensional projections can be acquired for a direct three-dimensional reconstruction (3D). A computer simulation has been performed to quantify the reconstruction error due to using 'a single circle cone beam geometry.' The results from the computer simulation indicate that the reconstruction error is relatively small compared to object contrast encountered in intra- arterial angiography. In this study, a scatter and veiling glare correction technique is reported. This technique put a beam stop array behind a phantom and in front of the image intensifier to estimate the scatter and veiling glare distribution. Then the primary beam distribution was estimated by subtracting the scatter and veiling glare distribution from the total detected radiation distribution. After obtaining the primary projections, a direct 3D reconstruction was obtained. The experimental results indicate that image contrast can be substantially improved by applying our scatter and veiling glare correction technique.
Transparent stacked organic light emitting devices. I. Design principles and transparent compound electrodes (1999)

Vertical stacking of organic light emitting devices (OLEDs) that emit the three primary colors is a means for achieving full-color flat panel displays. The physics, performance, and applications of stacked OLEDs (SOLEDs) are discussed in this and the following paper (Papers I and II, respectively). In Paper I, we analyze optical microcavity effects that can distort the emission colors of SOLEDs if not properly controlled, and describe design principles to minimize these parasitic effects. We also describe the fabrication and operating characteristics of transparent contacts that are an integral part of SOLEDs. We demonstrate that both metal-containing and metal-free transparent electrodes can serve as efficient electron and hole injectors into the stacked organic semiconductor layers. Two different transparent SOLED structures (metal-containing and metal-free) that exhibit sufficient performance for many full-color display applications will be discussed in Paper II.
Multimedia Information Systems - The Management and Semantic Retrieval of all Electronic Data Types (1991)

A Multimedia Information System is a repository for all types of information object. In the computing context, this means all types of digitally representable data such as text, images and voice. Such systems are complex and multi-disciplinary in nature. This article presents requirements for a uniform solution, outlines those prototypes that attempt to solve the problem and introduces a new system under development at Manchester University.
Room Temperature Ultraviolet Electroluminescence from Evaporated Poly(dimethylsilane) Film (1996)

Ultraviolet electroluminescent diodes operating at room temperature have been prepared using evaporated poly(dimethylsilane) (PDMS) as an emission layer. The emission spectrum is composed of ultraviolet and visible components. The ultraviolet component peakes at 350 nm due to the σ–σ * transition in the Si main chain while the visible region is broad and may be related to defects in the PDMS film. Little degradation is observed in the emission characteristics. The external quantum efficiency is estimated to be as low as 1.6×10 -4 because of the absorption loss of the glass substrate and for other reasons.
Confronting Surprise (2002)

Surprise takes many forms, all tending to disrupt plans and planning systems. Reliance by decision makers on formal analytic methodologies can increase susceptibility to surprise as such methods commonly use available information to develop single-point forecasts or probability distributions of future events. In doing so, traditional analyses divert attention from information potentially important to understanding and planning for effects of surprise. The authors propose employing computer-assisted reasoning methods in conjunction with simulation models to create large ensembles of plausible future scenarios. This framework supports a robust adaptive planning (RAP) approach to reasoning under the conditions of complexity and deep uncertainty that normally defeat analytic approaches. The authors demonstrate, using the example of planning for long-term global sustainability, how RAP methods may offer greater insight into the vulnerabilities inherent in several types of surprises and enhance decision makers’ ability to construct strategies that will mitigate or minimize the effects of surprise.
Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy (1997)

The occasion of the presentation of the eighth Gordon Holmes Lecture left me feeling both honoured and awed, as a result of my review of the Selected Papers of Gordon Holmes (Phillips CG: Selected Papers of Gordon Holmes, compiled and edited for the Guarantors of Brain. Oxford University Press, 1979), kindly presented to me by the sponsors of the meeting. This volume lists 174 publications produced over a 55-year period, and contains reprints of contributions to neuroanatomy, neuropathology, and to disorders that affected the adrenal cortex, the spinal cord, the cerebellum and the cerebral cortex. Yet I also feel a sense of sadness; the invitation to present the lecture came from the late Anita Harding who, such a short time before her illness, gave me personal guidance and encouragement. In this lecture I endeavour to follow the example of Gordon Holmes, namely the stepwise analysis of a clinical problem, first by observation of the patient, followed by the application of techniques that can clarify it, leading to new knowledge not only about the specific disorder, but also about the nervous system and human biology in general and, it is to be hoped, to more effective therapy.