gebhart/patrepeval huggingface dataset:
Down syndrome phenotypes: the consequences of chromosomal imbalance. (1994)

Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an extra chromosome 21, subsets of the phenotypic features of DS may be caused by the duplication of small regions of the chromosome. The physical map of chromosome 21 allows the molecular definition of the regions duplicated in these rare cases of partial trisomy. As a first step in identifying the genes responsible for individual DS features and their pathophysiology, a panel of cell lines derived from 16 such individuals has been established and the molecular break points have been determined using fluorescence in situ hybridization and Southern blot dosage analysis of 32 markers unique to human chromosome 21. Combining this information with detailed clinical evaluations of these patients, we have now constructed a "phenotypic map" that includes 25 features and assigns regions of 2-20 megabases as likely to contain the genes responsible. This study provides evidence for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation. This strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the DS phenotypic features.
The Efficacy of Azidothymidine (AZT) in the Treatment of Patients with AIDS and AIDS-Related Complex (1987)

We conducted a double-blind, placebo-controlled trial of oral azidothymidine (AZT) in 282 patients with the acquired immunodeficiency syndrome (AIDS) or AIDS-related complex. Although significant clinical benefit was documented (N Engl J Med 1987; 317:185-91), serious adverse reactions, particularly bone marrow suppression, were observed. Nausea, myalgia, insomnia, and severe headaches were reported more frequently by recipients of AZT; macrocytosis developed within weeks in most of the AZT group. Anemia with hemoglobin levels below 7.5 g per deciliter developed in 24 percent of AZT recipients and 4 percent of placebo recipients (P less than 0.001). Twenty-one percent of AZT recipients and 4 percent of placebo recipients required multiple red-cell transfusions (P less than 0.001). Neutropenia (less than 500 cells per cubic millimeter) occurred in 16 percent of AZT recipients, as compared with 2 percent of placebo recipients (P less than 0.001). Subjects who entered the study with low CD4 lymphocyte counts, low serum vitamin B12 levels, anemia, or low neutrophil counts were more likely to have hematologic toxic effects. Concurrent use of acetaminophen was also associated with a higher frequency of hematologic toxicity. Although a subset of patients tolerated AZT for an extended period with few toxic effects, the drug should be administered with caution because of its toxicity and the limited experience with it to date.
RGS proteins inhibit Xwnt-8 signaling in Xenopus embryonic development (2000)

RGS family members are GTPase activating proteins (GAPs) that antagonize signaling by heterotrimeric G proteins. Injection of Xenopus embryos with RNA encoding rat RGS4 (rRGS4), a GAP for G(i) and G(q), resulted in shortened trunks and decreased skeletal muscle. This phenotype is nearly identical to the effect of injection of either frzb or dominant negative Xwnt-8. Injection of human RGS2, which selectively deactivates G(q), had similar effects. rRGS4 inhibited the ability of early Xwnt-8 but not Xdsh misexpression to cause axis duplication. This effect is distinct from axin family members that contain RGS-like domains but act downstream of Xdsh. We identified two Xenopus RGS4 homologs, one of which, Xrgs4a, was expressed as a Spemann organizer component. Injection of Xenopus embryos with Xrgs4a also resulted in shortened trunks and decreased skeletal muscle. These results suggest that RGS proteins modulate Xwnt-8 signaling by attenuating the function of a G protein.
Design of liposomes for circumventing the reticuloendothelial cells (1991)

Two different aspects of liposomal drug delivery to non-RES cells have been described. In one of the systems, by incorporating neutral glycolipids, with terminal beta-galactoside residue into liposomes, it is possible to target liposomes to the liver parenchymal cells, partially bypassing the RES. Asialoganglioside seems to be the most suited for this purpose. In another approach, various factors that prolong the lifespan of circulating liposomes have been discussed. It is possible to design such liposomes by imparting hydrophilicity to the liposomal surface. The effectiveness of a number of possible candidates, such as dextran, GM1 ganglioside and PEG, has been discussed in this context.
Power coupling from laser diodes into single-mode fibres with quadrangular pyramid-shaped hemiellipsoidal ends (1981)

A novel fabrication method for hemiellipsoidal microlenses formed on fibre ends is proposed, for efficient coupling from laser diodes into single-mode fibres. The method permits the realisation of microlenses with the required ellipticities to match the fields of lasers and fibres. A very low coupling loss of 2.65 dB has been achieved.
PubChem: a public information system for analyzing bioactivities of small molecules (2009)

PubChem (http://pubchem.ncbi.nlm.nih.gov) is a public repository for biological properties of small molecules hosted by the US National Institutes of Health (NIH). PubChem BioAssay database currently contains biological test results for more than 700 000 compounds. The goal of PubChem is to make this information easily accessible to biomedical researchers. In this work, we present a set of web servers to facilitate and optimize the utility of biological activity information within PubChem. These web-based services provide tools for rapid data retrieval, integration and comparison of biological screening results, exploratory structure-activity analysis, and target selectivity examination. This article reviews these bioactivity analysis tools and discusses their uses. Most of the tools described in this work can be directly accessed at http://pubchem.ncbi.nlm.nih.gov/assay/. URLs for accessing other tools described in this work are specified individually.
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis (2013)

Our results indicate C9orf72 haploinsufficiency could be a contributing factor in the spectrum of ALS/FTLD neurodegenerative disorders. Loss of function of the zebrafish orthologue of zC9orf72 expression in zebrafish is associated with axonal degeneration of motor neurons that can be rescued by expressing human C9orf72 mRNA, highlighting the specificity of the induced phenotype. These results reveal a pathogenic consequence of decreased C9orf72 levels, supporting a loss of function mechanism of disease.
In Vitro Cell-Mediated Immunity of Cerebrospinal-Fluid Lymphocytes to Myelin Basic Protein in Primary Demyelinating Diseases (1977)

In an attempt to characterize the immunologic reactivity of cerebrospinal-fluid lymphocytes in demyelinating diseases, we compared the myelin-basic-protein-induced in vitro responses of these cells to peripheral blood lymphocytes from the same subjects with a variety of neurologic diseases. Peripheral blood lymphocytes from patients with acute disseminated encephalomyelitis and progressive multiple sclerosis had increased reactivity as compared to those of normal volunteers (P less than 0.01 and P less than 0.05, respectively). Cerebrospinal-fluid lymphocytes from patients with acute disseminated encephalomyelitis and acute and progressive (but not stable) multiple sclerosis were more reactive than cells from subjects with other neurologic diseases (P less than 0.005, P less than 0.02 and P less than 0.05, respectively). Cerebrospinal-fluid lymphocytes manifested a greater reactivity than peripheral blood lymphocytes in acute and progressive multiple sclerosis but not in acute disseminated encephalomyelitis. These findings demonstrate that lymphocytic cells reactive to myelin basic protein are present in the spinal fluid during active demyelinating disease; and that these cells may be more reactive than peripheral blood lymphocytes.
Antineoplastic agents. Part 189. The absolute configuration and synthesis of natural (-)-dolastatin 10 (1989)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTAntineoplastic agents. Part 189. The absolute configuration and synthesis of natural (-)-dolastatin 10George R. Pettit, Sheo Bux Singh, Fiona Hogan, Paul Lloyd-Williams, Delbert L. Herald, Douglas D. Burkett, and Paul J. ClewlowCite this: J. Am. Chem. Soc. 1989, 111, 14, 5463–5465Publication Date (Print):July 1, 1989Publication History Published online1 May 2002Published inissue 1 July 1989https://pubs.acs.org/doi/10.1021/ja00196a061https://doi.org/10.1021/ja00196a061research-articleACS PublicationsRequest reuse permissionsArticle Views1451Altmetric-Citations157LEARN 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-AlertscloseSupporting Info (1)»Supporting Information Supporting Information Get e-Alerts
Expression of surfactant-associated protein in non-small-cell lung cancer: a discriminant between biologic subsets. (1992)

We examined expression of the major surfactant-associated protein SP-A, a product characteristic of type II pneumocytes, in a panel of 126 non-small-cell lung carcinomas (NSCLC) by immunohistochemistry using routine paraffin-embedded material. In nonneoplastic lung, the expression was seen in normal and reactive type II pneumocytes. Based on a defined staining index composed of the number of cells and the staining intensity, 32% of all the NSCLC revealed SP-A immunoreactivity that was mostly focal. The highest incidence (50%) was demonstrated in adenocarcinomas having papillolepidic growth patterns (which include the bronchioloalveolar and papillary subtypes), followed by other subtypes of adenocarcinomas (31%) and other types of NSCLC (14%). Patients with SP-A expressing tumors had male/female ratio 1.1, as compared to 2.2 in all NSCLC or 2.0 in papillolepidic tumors. SP-A immunoreactivity in tumors was associated with lighter smoking history, significantly so in men (P2 = .016). The finding of a marker characteristic of peripheral, alveolar cell differentiation in all adenocarcinomas is of interest and supports the concept of common pathogenesis for adenocarcinomas. We conclude that SP-A expression occurs predominantly, but not exclusively, in adenocarcinomas, particularly in those with papillolepidic growth pattern. SP-A expression may delineate biologically and clinically interesting subsets of NSCLC.
The Effect of Pravastatin on Coronary Events after Myocardial Infarction in Patients with Average Cholesterol Levels (1996)

These results demonstrate that the benefit of cholesterol-lowering therapy extends to the majority of patients with coronary disease who have average cholesterol levels.
Radiofrequency Lesion Adjacent to the Dorsal Root Ganglion for Cervicobrachial Pain: A Prospective Double Blind Randomized Study (1996)

Each of 20 consecutive patients with a history of at least 1 year of intractable chronic cervicobrachial pain was randomly assigned to one of two treatment groups. The pretreatment investigation included at least three diagnostic segmental nerve blocks in each patient. Each patient in Group 1 received a 67 degrees C radiofrequency lesion adjacent to the dorsal root ganglion. The patients in Group II were treated in an identical manner as those in Group I, except that no actual radiofrequency lesion was made. Neither the therapist nor the patients were aware of the treatment group assignment. All patients were questioned about their pain experience 1 week before and 8 weeks after the procedure. The following tests were used in evaluating patient response: Visual Analogue Scale (VAS); McGill Pain Questionnaire, Dutch Language Version (MPQ-DLV); and Multidimensional Pain Inventory, Dutch Language Version (MPI-DLV). These tests showed that 8 weeks after the procedure, there was a significant number of "successful" patients in Group I compared to Group II (P = 0.0027); there was a significant reduction in VAS score (P < 0.01) and also in parameters measured with MPQ-DLV and MPI-DLV in Group I. This study indicates that a 67 degrees C radiofrequency lesion adjacent to the dorsal root ganglion can result in a significant alleviation of pain in chronic cervicobrachial pain.
Application of a brightness-adapted edge detector for real-time railroad tie detection in video images (1999)

Due to the increasing calculation power of dedicated hardware, real-time image processing becomes practicable at reasonable expense. Nevertheless the algorithms concerned have to be adapted to real-time requirements. The subject treated in this paper is tie detection for automated railway inspection. An edge detector is proposed in which the sensitivity is adaptable to the local brightness of the processed image. The required effort is the performance of a convolution operation with subsequent decision concerning the sign of the values obtained.
Static Ergonomic Strength Testing in Evaluating Occupational Back Pain (1984)

Quantitatively describing work limitation due to occupational back pain is difficult. Static ergonomic strength testing (SEST) was employed as part of a multidisciplinary evaluation program for occupational back pain, providing a quantitative description of lift ability in several positions. Comparison of intrasubject with intersubject variation confirmed that SEST did truly measure a personal characteristic. The expected degree of intrasubject variability is independent of the degree of impairment and provides a guide for detecting inadequate subject efforts. The technique allows worker-specific work restriction limitations to be recommended.
Functional Importance of the Ala116–Pro136 Region in the Calcium-sensing Receptor (2000)

The calcium-sensing receptor (CaR) belongs to family C of the G-protein-coupled receptor superfamily. To date 14 activating mutations in CaR showing increased sensitivity to Ca(2+) have been identified in humans with autosomal dominant hypocalcemia. Four of these activating mutations are found in the Ala(116)-Pro(136) region of CaR, indicating that this part of the receptor is particularly sensitive to mutation-induced activation. This region was subjected to random saturation mutagenesis, and 219 mutant receptor clones were isolated and screened pharmacologically in a high throughput screening assay. Selected mutants were characterized further in an inositol phosphate assay. The vast majority of the mutants tested displayed an increased affinity for Ca(2+). Furthermore, 21 of the mutants showed increased basal activity in the absence of agonist. This constitutive activity was not diminished when the mutations were transferred to a chimeric receptor Ca/1a consisting of the amino-terminal domain of the CaR and the 7 transmembrane and intracellular domains of the metabotropic glutamate receptor mGluR1a. CPCCOEt, a noncompetitive antagonist acting at the 7 transmembrane domain of mGluR1a, suppressed the elevated basal response of the constitutively activated Ca/1a mutants demonstrating inverse agonist activity of CPCCOEt. Taken together, our results demonstrate that the Ala(116)-Pro(136) region is of key importance for the maintenance of the inactive conformation of CaR.
Preparation and substrate reactions of superconducting Y-Ba-Cu-O films (1987)

Multiple metal-target dc magnetron sputter deposition of a metallic YBa2Cu3 alloy in pure Ar followed by ex situ oxygen annealing was used to prepare superconducting films on various substrates. This work particularly examines film-substrate reactions which are degrading to superconductivity. Better superconductors were obtained using predeposited buffer layers, notably on cubic zirconia and MgO substrates covered with Ag and Nb. Best films have Tc=80 K, metallic resistivities with resistance ratio≳2, and critical current density ≲10 kA cm−2 at 4.2 K. Normal-state resistivity measurements were made for O2 furnace temperatures up to 850 °C. Procedures for lithographically patterning these films are also described.
Inside-Out Red Cell Membrane Vesicles: Preparation and Purification (1970)

Plasma membranes purified from human red cells were Converted into small vesicleS by disruption in alkaline buffer of low ionic strength. Most of these vesicles were inside-out. The presence of divalent cations prevented this inversion. The inside-out vesicles were separatcd from right-side-out vesicles by centrifugration to equilibrium in dextran density gradients.
Expression of p53, inducible nitric oxide synthase and vascular endothelial growth factor in gastric precancerous and cancerous lesions: correlation with clinical features (2002)

The present results indicated that p53 protein accumulation and increased expression of iNOS and VEGF might be responsible for gastric carcinogenesis and tumor aggressiveness of gastric cancer.
Luminescent Cyclometalated N-Heterocyclic Carbene-Containing Organogold(III) Complexes: Synthesis, Characterization, Electrochemistry, and Photophysical Studies (2009)

A new class of luminescent mononuclear and dinuclear N-heterocyclic carbene-containing gold(III) complexes has been synthesized and characterized. The X-ray crystal structures of most of the complexes have also been determined. Electrochemical studies reveal a ligand-centered reduction originated from the RC--N--CR moieties with no oxidation waves. Interestingly, one of the dinuclear complexes exhibited two distinct reduction couples instead of one with the first reduction occurring at less cathodic potential, probably related to the splitting of the pi* orbital-based LUMO resulting from intramolecular pi-pi interaction. The electronic absorption and luminescence behaviors of the complexes have also been investigated. In dichloromethane solution at room temperature, the low-energy absorption bands are assigned as the intraligand pi-pi* transition, with mixing of a charge transfer character from the aryl ring to the pyridine moiety of the cyclometalating RC--N--CR ligand. The low-energy emission bands are ascribed to origins mainly derived from the intraligand pi-pi* states with an aryl to pyridine charge transfer character of the cyclometalating RC--N--CR ligand.
Some Problems in Interval Estimation (1954)

Summary The object of this paper is to propose for discussion the following topic: b1, b2, … are unbiased estimates of β1, β2, …, distributed normally with variances and covariances jointly estimated, with / degrees of freedom and independently of b1, b2, …, as v11, v12, v22, …, and the functions Fr(α) do not involve the parameters βr. What can we say about the roots of the equation in F(β,α)=β1F1(α)+β2 F2(α)+…=0? Numerical examples are discussed in detail to illustrate the problems of determining the fiducial distributions of (i)the root of a simple equation (i.e., a ratio),(i)the roots of a quadratic equation with variable coefficients. The solutions proposed are based on a consideration of the region of the (α, t2) plane lying above the curve {F(b,α)}2=t2 V{F(b,α)}=t2∑vijFi(α)Fj(α).
THE ROLE OF THE KIDNEY IN ERYTHROPOIESIS* (1960)

The pathogenesis of anemia in chronic and acute renal insufficiency has not yet been fully understood. Emerson and Burrows (1) and Chaplin and Mollison (2), using the Ashby tech- nic, have shown the decreased red cell survival in chronic and acute nephritis. Later other workers (3-6) noted the same defect, and Muirhead and co-workers (7, 8) studying nephrectomized rab- bits and dogs pointed out a hemolytic picture. Loge, Lange and Moore (9) in 1950, using radio- active iron, observed a reduced uptake in the red cells of uremic patients; these findings were con- firmed by others using Fe59 with high specificity (4-6, 10). This reduction of the erythropoietic function was also demonstrated by the depletion of erythroblasts from the marrow in uremic pa- tients (6, 11, 12) and by the severe erythroblasto- penia commonly associated with acute renal failure (6, 13). These observations show that uremic anemia results from a double mechanism: a short red cell survival and a depression of erythropoiesis.
Mast cell ontogeny and apoptosis (1995)

The regulation of tissue mast cell number depends both on the rate of production of mast cell precursors from bone marrow and the length of survival of mature mast cells within tissues. Mast cells develop from bone marrow under the influence of both interleukin-3 (IL-3) and the c-kit ligand, also known as stem cell factor (SCF). In humans, the mast cell precursor is CD34+, FcERI-. Mast cell precursors with time become less responsive to IL-3 and more responsive to SCF. Mast cell proliferation directed by SCF is enhanced by other cytokines including both IL-4 and IL-10. Once mast cell precursors target to tissues, their survival may largely be dependent upon the local production of SCF. Withdrawal of IL-3 or SCF results in mast cell apoptosis; SCF rescues mast cells following IL-3 withdrawal. TGF-beta prevents this SCF rescue. Engagement of extracellular matrix by integrin receptors may also effect mast cell numbers. Thus, in the final analysis, mast cell numbers, while relatively constant in the normal state, may be up-regulated by altering the rate of their production centrally or length of survival in the periphery.
Using minimal source trees for on-demand routing in ad hoc networks (2002)

The on-demand routing protocols that have been proposed to date use either path information (e.g., DSR) or distance information (e.g., AODV). We present SOAR, an on-demand link-state protocol based on partial link-state information in which a wireless router communicates to its neighbors the link states of only those links in its source tree that belong to the paths it chooses to advertise for reaching destinations with which it has active flows, SOAR does not require periodic link-state advertisements when there are no link connectivity changes in the network. Simulation studies for several scenarios of node mobility and traffic flows reveal that SOAR performs more efficiently than DSR, which is one of the best performing on-demand routing approaches based on path information.
Large scale screening of human sera for HCV RNA and GBV‐C RNA (2013)

North Carolina locates acute HIV cases by pooled nucleic acid testing of HIV-antibody negative serum samples. Here, 224 pools of 80 HIV-negative samples (N = 17,920) were screened for viral RNA from HCV, GBV-C, and influenza A. No evidence of influenza A was found, but HCV and GBV-C were common (1.2% and 1.7% prevalence, respectively), demonstrating the utility of pooled testing in locating individuals that may remain undiagnosed otherwise. By sequencing positive pools, potential transmission clusters may be located as well.