gebhart/patrepeval huggingface dataset:
Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24‐q26.31 with minimal overlap to the dup(3q) critical region (2004)

Dup(3q) syndrome is characterized by typical facial features, mental and growth retardation, often with congenital heart defects. The syndrome has attracted special attention because of the clinical overlap with Cornelia de Lange syndrome (CDLS). Patients with dup(3q) syndrome are trisomic for segments of the long arm of chromosome 3, most often within the region 3q21 to 3qter. Most cases have arisen as unbalanced translocations and do involve other chromosomes also. A dup(3q) minimal region has been defined at 3q26.3-q27. We report here a 15-month-old boy with a de novo interstitial inverted duplication of 3q24-q26.31. Clinical evaluation revealed mild but typical features of dup(3q) syndrome. The duplication was characterized by conventional and molecular cytogenetics. The results allow further narrowing of the dup(3q) critical region at its distal end and suggest the existence of one or several major genes responsible for the dup(3q) syndrome in the proximal half of 3q26.31. Moreover, the results of fluorescence in situ hybridization (FISH) analysis with BAC probes suggest a disruption of the NLGN1 gene at the distal end of the duplication in 3q26.31 in the patient. The breakpoint within NLGN1 is unique for this patient, and the contribution of NLGN1 disruption to the phenotype of this patient remains unclear. Yet since NLGN1 is involved in synaptogenesis in the central nervous system, altered gene dosage is a good candidate for mental retardation as a recurrent feature of dup(3q) syndrome.
Assessment of Left Ventricular Systolic Function With Automated Mitral Annular Tracking Method (2007)

Objective:The aim of this study was to examine the clinical application of automated mitral annular tracking method for as- sessing left ventricular systolic function and try to find if there was correlation between the automated mitral annular tracking tech- niques and conventional Simpson' s method for assessing left ventricular systolic function. Methods:The end diastolic left ventricular volume(EDV),end systolic left ventricular volume(ESV),stroke volume (SV),cardiac output(CO),left ventricular ejection fraction(LVEF),stroke index(SI)and cardiac index(CI)were detec- ted by automated mitral annular tracking method and conventional Simpson' s method in the apical window at 4-chamber,respec- tively.All variables of the either way were determined with the use of analysis of correlation statistics. Results:The r of EDV,ESV,SV,CO,LVEF,SI and CI between automated mitral annular tracking method and conven- tional Simpson' s method,were 0.850,O.920,0.627,0.604,0.711,0.617 and 0.631.The r between the LVEF measured by automated mitral annular tracking method and the left ventricle lateral wall velocity measured by tissue Doppler image method was 0.626. Conclusion:Automated mitral annular tracking method had a good correlation with conventional Simpson' s method for asses- sing left ventrieular systolic function.
A Case of Adult Gastric Burkitt's Lymphoma with Long-term Survival (2015)

症例は35歳，男性．摂食時の違和感を主訴に来院．上部消化管内視鏡検査で周堤を伴わない潰瘍を認め，生検で腫瘍細胞は認めなかった．CTで12cm大腫瘍を認め，確定診断のため超音波下生検を実施した．腫瘍増大による圧迫症状と小腸腸重積を認め，緊急手術となった．原発巣を切除できず腸重積部小腸を摘出し小腸瘻造設術を行った．悪性リンパ腫の診断のもと，術後3日目からR-CHOP化学療法を実施した．発熱性好中球減少症を認め，以後20％減量で6コース行い腹部CTで腫瘍は消失した．発症から4年経過し完全寛解状態で通院中である．成人胃Burkittリンパ腫症例は本邦で学会抄録も含めて21例報告されているが，1年以上の生存報告は4例と予後不良である．悪性リンパ腫は早期化学療法が推奨されるが，腫瘍崩壊症候群・穿孔・腸重積も多く手術を優先することもある．本症例は確定診断前に緊急手術となったが，術後早期から化学療法を行い，長期生存が得られたと考えられた．
Abstract A23: Human mammary luminal progenitor cells use cKIT-H2O2 interactions to regulate their growth (2016)

Abstract Hydrogen peroxides (H2O2) are known to activate multiple cell signaling pathways but the mechanisms involved and how they are differentially regulated in specific normal mammary cell types is unknown. The luminal progenitor (LP) fraction of cells of the normal human mammary gland are of particular interest in this regard because, compared to the basal cells (BCs), these cells consume more O2, sustain higher levels of ROS, and are more resistant to H2O2 levels by virtue of their repertoire of enzymes that reduce both ROS and oxidized nucleotide products of ROS. However, these features of normal human LPs are also accompanied by their accumulation of more DNA damage. Here we examine the idea that the greater tolerance of LPs to ROS may be associated with a previously unknown intracellular signaling role of ROS in these cells. Using an optimized quantitative twin-photon and confocal-reflectance imaging system, we have found that the size of the spherical 3D structures produced in Matrigel cultures by freshly isolated, FACS-purified normal human LPs is increased in the presence of exogenous H2O2 at concentrations that are toxic to BCs. In addition to LPs, co-purified non-clonogenic luminal cells (LCs) display elevated levels of peroxiredoxin-1 peroxidase, a negative regulator of H2O2 action, as compared to BCs. Both of the luminal cell types (but not BCs) also showed tyrosine phosphorylation of peroxiredoxin-1 peroxidase (a biomarker of H2O2 action) when exposed for 10 minutes to exogenous H2O2, but LPs only showed marked inactivation of peroxiredoxin-1 in the absence of an external stimulus. Western blot analysis revealed a parallel and dramatic H2O2-induced pan-tyrosine phosphorylation response selectively in both luminal subsets, and their analysis at the single cell level by mass cytometry using a CyTOF identified multiple activated signaling intermediates. From FACS, immunohistochemistry, Western blot, microarray and RNA-Seq data analyses, we identified cKIT as the most differentially and highly expressed (albeit trypsin-sensitive) tyrosine kinase in LPs. Epigenetic analysis of the cKIT promoter showed it to be in an ‘open’ state exclusively in human LPs, and H2O2 treatment alone was sufficient to rapidly activate auto-phosphorylation of the cKIT Y719 residue, a site known to bind and thereby lead to the activation of PI3 kinase. Taken together, these findings reveal a new, ligand-independent function of a cell surface receptor in mediating a potent, lineage-specific signaling function of H2O2 that, in normal human mammary cells influences cell growth. Citation Format: Nagarajan Kannan, Kingsley Shih, Yifei Dong, Peter Eirew, David Knapp, Davide Pellacani, Hequn Wang, Haishan Zeng, Connie Eaves. Human mammary luminal progenitor cells use cKIT-H2O2 interactions to regulate their growth. [abstract]. In: Proceedings of the AACR Special Conference on Advances in Breast Cancer Research; Oct 17-20, 2015; Bellevue, WA. Philadelphia (PA): AACR; Mol Cancer Res 2016;14(2_Suppl):Abstract nr A23.
Gut Microbiota in Health, Diverticular Disease, Irritable Bowel Syndrome, and Inflammatory Bowel Diseases: Time for Microbial Marker of Gastrointestinal Disorders (2017)

Few data exist on differences in gut microbiota composition among principal gastrointestinal (GI) diseases. We evaluated the differences in gut microbiota composition among uncomplicated diverticular disease (DD), irritable bowel syndrome (IBS) and inflammatory bowel diseases (IBD) patients. DD, IBS, and IBD patients along with healthy controls (CT) were enrolled in our Italian GI outpatient clinic. Stool samples were collected. Microbiota composition was evaluated through a metagenomic gene-targeted approach. GI pathology represented a continuous spectrum of diseases where IBD displayed one extreme, while CT displayed the other. Among Phyla, Biplot PC2/PC3 and dendogram plot showed major differences in samples from IBS and IBD. DD resembled species CT composition, but not for Bacteroides fragilis. In IBS, Dialister spp. and then Faecalibacterium prausnitzii were the most representative species. Ulcerative colitis showed a reduced concentration of Clostridium difficile and an increase of Bacteroides fragilis. In Crohn's disease, Parabacteroides distasonis was the most represented, while Faecalibacterium prausnitzii and Bacteroides fragilis were significantly reduced. Each disorder has its definite overall microbial signature, which produces a clear differentiation from the others. On the other hand, shared alterations constitute the "core dysbiosis" of GI diseases. The assessment of these microbial markers represents a parameter that may complete the diagnostic assessment.
3‐Hydroxypropylmercapturic acid: A biologic marker of exposure to allylic and related compounds (1989)

3-Hydroxypropylmercapturic acid [3-OHPrMCA, S-(3-hydroxypropyl)-N-acetyl-L-cysteine] was quantitatively measured by high-performance liquid chromatography (HPLC) in the urine of rats given allylamine.HCl (5, 25, 50, 100 and 150 mg kg-1), acrolein (13 mg kg-1), allylalcohol (64 mg kg-1), allylchloride (76 mg kg-1), allylbromide (120 mg kg-1), allylcyanide (115 mg) and cyclophosphamide (160 mg kg-1) by gavage in water. 3-OHPrMCA was measured by HPLC in 24-h urine collections; the lower detection limit was 1.25 micrograms or 5.6 nmol ml-1. Various doses of allylamine resulted in 3-OHPrMCA excretion at a fairly constant percentage of the dose, ca. 44-48% at 0-24 h and 3% at 24-48 h, indicating rapid metabolism through glutathione conjugation in the first 24h. Similarly, 3-OHPrMCA was recovered in the urine of rats given acrolein (78.5%), allylalcohol (28.3%), allylchloride (21.5%), allylbromide (3.0%), allylcyanide (3.7%) and cyclophosphamide (2.6%). These data indicate that 3-OHPrMCA can be used as a marker of exposure to allylic and other compounds that lead to the metabolic formation of acrolein.
PEBP2αB/Mouse AML1 Consists of Multiple Isoforms That Possess Differential Transactivation Potentials (1994)

A murine transcription factor, PEBP2, is composed of two subunits, alpha and beta. There are two genes in the mouse genome, PEBP2 alpha A and PEBP2 alpha B, which encode the alpha subunit. Two types of the alpha B cDNA clones, alpha B1 and alpha B2, were isolated from mouse fibroblasts and characterized. They were found to represent 3.8- and 7.9-kb transcripts, respectively. The 3.8-kb RNA encodes the previously described alpha B protein referred to as alpha B1, while the 7.9-kb RNA encodes a 387-amino-acid protein, termed alpha B2, which is identical to alpha B1 except that it has an internal deletion of 64 amino acid residues. Both alpha B1 and alpha B2 associate with PEBP2 beta and form a heterodimer. The alpha B2/beta complex binds to the PEBP2 binding site two- to threefold more strongly than the alpha B1/beta complex does. alpha B1 stimulates transcription through the PEBP2 site about 40-fold, while alpha B2 is only about 25 to 45% as active as alpha B1. Transactivation domain is located downstream of the 128-amino-acid runt homology region, referred to as the Runt domain. Mouse chromosome mapping studies revealed that alpha A, alpha B, and beta genes are mapped to chromosomes 17, 16, and 8, respectively. The last two genes are syntenic with the human AML1 on chromosome 21q22 and PEBP2 beta/CBF beta on 16q22 detected at the breakpoints of characteristic chromosome translocations of the two different subtypes of acute myeloid leukemia. These results suggest that previously described chimeric gene products, AML1/MTG8(ETO) and AML1-EAP generated by t(8;21) and t(3;21), respectively, lack the transactivation domain of AML1.
Dose timing in tumor radiotherapy: Considerations of cell number stochasticity (1996)

A typical tumor radiotherapy regimen using external beam X rays consists of doses on weekdays for 4-7 weeks. During the final weeks, the tumor may contain only a few cells capable of regenerating the tumor and may be growing exponentially between doses. Stochastic fluctuations of the cell number can influence the optimal time pattern of dose delivery. If the total dose is fixed, a deterministic model of exponential tumor growth, neglecting stochastic effects, predicts that the way the radiation dose is spread out in time does not affect the average number of tumor cells at the end. However, we here show, within the framework of a birth-death model, that when stochastics are taken into account, the earlier the dose is given (consistent with other constraints imposed by quite different considerations), the better. The proof uses a transformation that simplifies the characteristic equation of the partial differential equation governing the probability generating function for a birth-death process with time-dependent rates. The theorem that earlier is better holds for any statistical distribution of cell number from patient to patient at the start of the exponential growth phase and for virtually any cell-killing model. Numerical results indicate the stochastic effects, although not dominant, are not negligible.
The Reactions of Phenols with Oxysulfonium Cations (1965)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTThe Reactions of Phenols with Oxysulfonium CationsK. E. Pfitzner, J. P. Marino, and R. A. OlofsonCite this: J. Am. Chem. Soc. 1965, 87, 20, 4658–4659Publication Date (Print):October 1, 1965Publication History Published online1 May 2002Published inissue 1 October 1965https://pubs.acs.org/doi/10.1021/ja00948a056https://doi.org/10.1021/ja00948a056research-articleACS PublicationsRequest reuse permissionsArticle Views163Altmetric-Citations33LEARN 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
Effect of surface plasmon polaritons on optical activity in chiral metal nanogratings (2007)

A relation between the optical activity and the coupling of SPP modes localized at the different interfaces of a chiral nanograting is obtained from the dependence of the polarization rotation on the angle of incidence.
Hydrothermal synthesis, structure refinement, and electrochemical characterization of Li<sub>2</sub>CoGeO<sub>4</sub> as an oxygen evolution catalyst (2014)

We report hydrothermal synthesis and structural refinement of Li<sub>2</sub>CoGeO<sub>4</sub>, as well as its use as a catalyst for oxygen evolution reaction.
Criteria for Exchange Transfusion in Jaundiced Newborns (1994)

The bilirubin/albumin ratio is a simple, nonambiguous way of incorporating the serum albumin concentration into exchange transfusion criteria.
Applicability of the FASTBUS Standard to Distributed Control (1981)

The new FASTBUS standard has been designed to provide a framework for distributed processing in both experimental data acquisition and accelerator control. The features of FASTBUS which support distributed control are a priority arbitration scheme which allows intercrate as well as intracrate message flow between processors and slave devices; and a high bandwidth to permit efficient sharing of the data paths by high-speed devices. Sophisticated diagnostic aids permit system-wide error checking and/or correction. Software has been developed for large distributed systems. This consists of a system data base description, and initialization algorithms to allocate address space and establish preferred message routes. A diagnostics package is also being developed, based on an independent Ethernet-like serial link. The paper describes available hardware and software, on-going developments, and current applications.
Synthesis and Structure-Activity Relationships of Cytotoxic 7-Hydroxy Sterols (1994)

The cytotoxic sterols 1 and 2, previously isolated from Pseudobersama mossambicensis, have been synthesized in nine steps from stigmasterol, together with seven related sterols. Structure-activity relationships of these sterols in cytotoxicity and DNA-damaging assays are discussed.
Development of an Automated Motion Evaluation System from Wearable Sensor Devices for Ski Jumping (2016)

We developed a system for the automatic evaluation of ski jumps on the base of machine learning algorithms. In several capture sessions during summer jump season, motions of four junior ski jumpers were captured by inertial sensors over the complete jump, from the start of the in-run to the end of the outrun phase. Additionally, style points were collected from an experienced judge to serve as ground truth and control data for the machine learning algorithms. All jumps were randomly separated into a training and a test database. Next, we determined kinematic factors such as body segment orientation and body joint position and segmented every jump into its main motion phases on the base of the raw sensor data. Specific motion characteristics that influence the performance and length of a jump were then used to create machine style knowledge from the training database in compliance to the official scoring guidelines. In a last step, we computed the similarity of every jump within the test database to the trained knowledge on a ski jump's style parameters and evaluated the presence or absence of jump errors. Results showed that the computed error annotations conform largely to the human-based judging scores. Adding automatic score measures to the algorithm in future, this method might be an important step towards better measurability and objectivity of performance-oriented sports in form of a mobile competition evaluation system.
Linear polarization switchable slot ring array antenna with SPDT switch circuit (2009)

In this paper, a linear polarization switchable slot array antenna is proposed. A novel SPDT switch circuit is used in the proposed slot array antenna for polarization switching function. By using the SPDT switch circuit feed the RF signal to the array antenna, the antenna allowing switching orthogonal linear polarization is demonstrated. The excellent design flexibility of the ¿Both-Sided MIC technology¿ is effectively employed in forming this type of antenna. The characteristics of this functional antenna are discussed by using simulated results. Consequently, it is verified that the linear polarization of the proposed antenna can be successfully controlled.
Measurement of aerosol loading profiles and mixing heights in Atlanta, Georgia during the 1992 SORP-ONA field study (1994)

The Southern Oxidants Research Program on Ozone Non-Attainment (SORP-ONA) field study was held in Atlanta, Georgia, during the summer of 1992. SORP-ONA was the first in a series of intensive studies to characterize urban ozone in the South as a part of the Southern Oxidants Study (SOS). The University of Michigan Doppler Lidar was stationed on the Georgia Tech Campus during the study and measured aerosol profiles with approximately 15-minute temporal resolution. A study of mixing in the urban boundary layer determined that aerosol and presumably chemical constituents are not always well-mixed as expected and that some structure does exist. A technique for separation of aerosol and molecular scattered signal for retrieval of aerosol profiles is described. Additionally, a technique is introduced to estimate boundary layer mixing height which shows excellent correlation with rawinsonde potential temperature profile estimates of mixing height.
An fMRI Study of the Activation of the Hippocampus by Emotional Memory (2012)

The current study examined the role of the hippocampus in emotional memory encoding using functional magnetic resonance imaging (fMRI). The present study examined the activation patterns of 12 healthy participants who were associated with memory for words and pictures with moderately high emotional tone. Results revealed significant activation in the temporal and frontal lobes for emotional and neutral stimuli. There was greater activation in the left hippocampus for emotional words and the right hippocampus for emotional pictures. However, a separate analysis of gender suggested that the emotional responses of the women accounted for the activation of the hippocampus; men did not have a pattern of hippocampus activation consistent with the type of stimuli. These findings have important implications for the design of a clinical memory assessment using fMRI.
Low-Threshold Stimulated Emission Using Colloidal Quantum Wells (2014)

The use of colloidal semiconductor nanocrystals for optical amplification and lasing has been limited by the need for high input power densities. Here we show that colloidal nanoplatelets produce amplified spontaneous emission with thresholds as low as 6 μJ/cm(2) and gain as high as 600 cm(-1), both a significant improvement over colloidal nanocrystals; in addition, gain saturation occurs at pump fluences 2 orders of magnitude higher than the threshold. We attribute this exceptional performance to large optical cross-sections, slow Auger recombination rates, and narrow ensemble emission line widths.
Has oral fluid the potential to replace serum for the evaluation of population immunity levels? A study of measles, rubella and hepatitis B in rural Ethiopia. (2001)

Our results suggest that oral fluid could have the potential to replace serum in IgG antibody prevalence surveys. Further progress requires assessment of variation in assay performance between populations as well as the availability of standardized, easy to use assays.
Estimation of time varying QoE for high definition IPTV distribution (2012)

High Definition (HD) content delivery over IP networks is now a reality in the entertainment marketplace. Such networks can suffer packet loss, especially on the last mile link. This results in time-variant video quality. In this paper we first present an analysis of the human perception of network impairment on HD IPTV quality. Second, we propose a method, based on common objective measurements, to estimate subjective judgments of time-variant quality. A testbed was deployed to emulate a real use case of delivering high definition TV material over an IPTV network. The quality of the delivered H.264/AVC encoded video was evaluated objectively in an emulated environment where packet loss impairments were generated. Objective measurements were then compared to continuous subjective quality ratings. Based on the obtained results, highly correlated models were developed for the estimation of instantaneous user judgment of impaired HD broadcast IPTV.