gebhart/patrepeval huggingface dataset:
Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome. (1995)

The fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Fragile X premutations are not associated with any clinical phenotype but are at high risk of expanding to full mutations causing the disease when they are transmitted by a carrier woman. There is no reliable estimate of the prevalence of women who are carriers of fragile X premutations. We have screened 10,624 unselected women by Southern blot for the presence of FMR1 premutation alleles and have confirmed their size by PCR analysis. We found 41 carriers of alleles with 55-101 CGG repeats, a prevalence of 1/259 women (95% confidence interval 1/373-1/198). Thirty percent of these alleles carry an inferred haplotype that corresponds to the most frequent haplotype found in fragile X males and may indeed constitute premutations associated with a significant risk of expansion on transmission by carrier women. We identified another inferred haplotype that is rare in both normal and fragile X chromosomes but that is present on 13 (57%) of 23 chromosomes carrying FMR1 alleles with 53-64 CGG repeats. This suggests either (1) that this haplotype may be stable or (2) that the associated premutation-size alleles have not yet reached equilibrium in this population and that the incidence of fragile X syndrome may increase in the future.
Hybridization kinetics and thermodynamics of molecular beacons (2003)

Molecular beacons are increasingly being used in many applications involving nucleic acid detection and quantification. The stem-loop structure of molecular beacons provides a competing reaction for probe-target hybridization that serves to increase probe specificity, which is particularly useful when single-base discrimination is desired. To fully realize the potential of molecular beacons, it is necessary to optimize their structure. Here we report a systematic study of the thermodynamic and kinetic parameters that describe the molecular beacon structure-function relationship. Both probe and stem lengths are shown to have a significant impact on the binding specificity and hybridization kinetic rates of molecular beacons. Specifically, molecular beacons with longer stem lengths have an improved ability to discriminate between targets over a broader range of temperatures. However, this is accompanied by a decrease in the rate of molecular beacon-target hybridization. Molecular beacons with longer probe lengths tend to have lower dissociation constants, increased kinetic rate constants, and decreased specificity. Molecular beacons with very short stems have a lower signal-to-background ratio than molecular beacons with longer stems. These features have significant implications for the design of molecular beacons for various applications.
Evaluation of hot-melt extrusion as a new technique for the production of polymer-based pellets for sustained release capsules containing high loadings of freely soluble drugs (1994)

Hot-melt screw extrusion was presented as an alternative method for producing polymer-based sustained release pellets. Special care was paid to the case of highly dosed freely soluble drugs which often pose technological problems with the usual manufacturing processes. In a preformulation study, polymers, plasticizers and drugs were selected according to various criteria including thermal stability. During these preliminary tests, the optimum extrusion conditions were defined. Four polymers were considered for extrusion trials, namely ethylcellulose, cellulose acetate butyrate, poly(ethylene-co-vinyl acetate) and a polymethacrylate derivative (Eudragit® RSPM). Pellets were produced with diltiazem hydrochloride as model drug. The surface appearance of various formulations was examined and the porosity assessed by means of mercury porosimetry. A distinct structure was found for the EVAC-based pellets. The overall porosity was less than 10%. Lastly, in vitro release of the drug showed a biphasic profile with a slow diffusion-controlled phase following a much faster release. The release rate of diltiazem hydrochloride from EVAC-based hot-melt extruded pellets of size 2 × 2 mm was very low. It is the opinion of the authors that this type of dosage form offers many potentialities because of its ease of processing and the wide possibility of modulating the release through the addition of hydrophilic excipients.
Classification of posterior dynamic stabilization devices (2007)

Numerous new posterior dynamic stabilization (PDS) devices have been developed for the treatment of disorders of the lumbar spine. In this report the authors provide a classification scheme for these devices and describe several clinical situations in which the instrumentation may be expected to play a role. By using this classification, the PDSs that are now available and those developed in the future can be uniformly categorized.
Local alignment of two-base encoded DNA sequence (2009)

The new local alignment algorithm for two-base encoded data has substantial power to properly detect and correct measurement errors while identifying underlying sequence variants, and facilitating genome re-sequencing efforts based on this form of sequence data.
Maximum-likelihood image restoration adapted for noncoherent optical imaging (1988)

Noncoherent optical-imaging systems are identified as potential applications for the maximum-likelihood image-restoration methods that are currently being studied for various modalities of nuclear-medicine imaging. An analogy between the quantum-photon measurements of such an optical system and that of a gamma camera allow for this new application. Results of a computer simulation are presented that support its feasibility. One important property revealed by this simulation is that the maximum-likelihood method demonstrates the ability to extrapolate the Fourier spectrum of a band-limited signal. This ability can be partially understood in that this algorithm, similar to some of the other spectral-extrapolation algorithms, constrains the solution to nonnegative values. This observation has implications on the potential of superresolution, the restoration of images from a defocused optical system, and three-dimensional imaging with a microscope.
Alternative base pairs attenuate influenza A virus when introduced into the duplex region of the conserved viral RNA promoter of either the NS or the PA gene (2003)

The development of plasmid-based rescue systems for influenza virus has allowed previous studies of the neuraminidase (NA) virion RNA (vRNA) promoter to be extended, in order to test the hypothesis that alternative base pairs in the conserved influenza virus vRNA promoter cause attenuation when introduced into other gene segments. Influenza A/WSN/33 viruses with alternative base pairs in the duplex region of the vRNA promoter of either the polymerase acidic (PA) or the NS (non-structural 1, NS1, and nuclear export, NEP, -encoding) gene have been rescued. Virus growth in MDBK cells demonstrated that one of the mutations, the D2 mutation (U-A replacing G-C at nucleotide positions 12'-11), caused significant virus attenuation when introduced into either the PA or the NS gene. The D2 mutation resulted in the reduction of PA- or NS-specific vRNA and mRNA levels in PA- or NS-recombinant viruses, respectively. Since the D2 mutation attenuates influenza virus when introduced into either the PA or the NS gene segments, or the NA gene segment, as demonstrated previously, this suggests that this mutation will lead to virus attenuation when introduced into any of the eight gene segments. Such a mutation may be useful in the production of live-attenuated viruses.
A coaxial catheter system for afterloading radioactive sources for the interstitial irradiation of brain tumors (1982)

✓ A coaxial two-catheter system that facilitates accurate stereotaxic placement of radioactive sources for the interstitial irradiation of brain tumors is described.
Optimizing Growth Hormone Replacement Therapy by Dose Titration in Hypopituitary Adults (1998)

Although growth hormone (GH) replacement therapy is increasingly utilized in the management of adult hypopituitary patients, optimum dosing schedules are poorly defined. The use of weight-based or surface area-based dosing may result in overtreatment, and individual variation in susceptibility on the basis of gender and other factors is now being recognized. To optimize GH replacement and to explore further gender differences in susceptibility, we used a dose titration regimen, starting at the initiation of GH replacement therapy, in 50 consecutive adult-onset hypopituitary patients, and compared the results with those in 21 patients previously treated using a weight-based regimen. Titrated patients commenced GH 0.8 IU/day subcutaneously (0.4 IU/day if hypertensive or glucose tolerance impaired). Serum insulin-like growth factor I (IGF-I) was measured at 0, 2, 4, 6, 8, 10, and 12 weeks in all patients. Serum IGF binding protein 3 and acid labile subunit were measured at the same time points in 17 patients (8 male, 9 female). Patients were reviewed every 4 weeks and the dose of GH increased, if necessary, to achieve a serum IGF-I level between the median and the upper end of the age-related reference range. There was no significant difference between mean serum IGF-I at 2 and 4 weeks, or between 6 and 8 weeks, indicating that the full effects of a change in dose are evident within 2 weeks of that change. Maintenance doses were significantly higher in females than males [1.2 (0.8-2.0) vs. 0.8 (0.4-1.6) IU/day; median (range); P < 0.0001], and the median time to achieve maintenance dose was significantly shorter in males [4 (2-12) vs. 9 (2-26) weeks; P < 0.0001]. Median maintenance dose was lower overall than in a group of 21 patients initially commenced on GH using a weight-based dosing schedule, with subsequent adjustment of dose during clinical follow-up [1.5 (0.4-3.2) IU/day; P = 0.02]. Reduction in waist measurement and waist to hip ratio at 6 and 12 months was similar in females (P < 0.001) and males (P < 0.01). Well-being improved significantly after 3 months of GH therapy (14.2 +/- 5.9 vs. 7.4 +/- 4.5 SD; P < 0.0001), and there were no gender differences. Adult Growth Hormone Deficiency Assessment (AGHDA) scores at 6 months were similar to maintenance scores in patients commenced on weight-based regimens. Measurements of ALS and IGFBP-3 added no useful extra information to IGF-I in managing the dose titration. The practical scheme outlined for dose titration of GH replacement resulted in rapid achievement of lower maintenance doses than those achieved using conventional weight-based regimens without loss of efficacy. It was particularly important in female patients who demonstrated decreased overall sensitivity to GH and required higher doses to achieve the same effects as males. This constitutes the first report of a uniform titration regimen based on a defined target range of serum IGF-I in a large patient cohort.
Yufa! A Practical Guide to Mandarin Chinese Grammar (2013)

YUFA! A PRACTICAL GUIDE TO MANDARIN CHINESE GRAMMAR takes a unique approach to explaining the major topics of Mandarin Chinese grammar. By providing examples that are rooted in realistic situations, the author shows you how grammar is used in everyday life. The book features:Chinese characters, pinyin and English translationsRealistic scenarios to provide you with an interesting context in which to learn grammarVaried and imaginative exercises so you can review your progress easily.The book is presented in two sections: the core structures of Chinese grammar, and the practical use of the Chinese language.The combination of these straightforward descriptions and numerous exercises throughout the book makes this one of the clearest and most comprehensive pedagogical grammars available.
Toward the Syntheses of Universal Ligands for Metal Oxide Surfaces:  Controlling Surface Functionality through Click Chemistry (2006)

A new means for functionalizing metal oxide surfaces, specifically nanoparticles, is demostrated. This process involves the design of stable ligands that bind strongly to the surface of metal oxides and can undergo further chemical modification via click chemistry, with both small molecules as well as polymers, to yield metal oxide surfaces with tailored functionality. The nanoparticles are stable and easily dispersed in both polar and nonpolar solvents, a property that is controlled by the ligand. The resultant nanoparticles were characterized by TEM, TGA, FTIR, and NMR.
Partnerships between elected local governments and community-based organizations : exploring the scope for Synergy (2004)

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Isolation and Characterization of a Pseudomonas sp. That Mineralizes the s-Triazine Herbicide Atrazine (1995)

A bacterium that was capable of metabolizing atrazine at very high concentrations (>1,000 ppm) was isolated from a herbicide spill site. The organism was differentiated by observing clearing zones on indicator agar plates containing 1,000 ppm atrazine. Detailed taxonomic studies identified the organism as a Pseudomonas sp., designated ADP, that was dissimilar to currently known species. Pseudomonas sp. strain ADP metabolized atrazine as its sole nitrogen source. Nongrowing suspended cells also metabolized atrazine rapidly; for example, 9 x 10(sup9) cells per ml degraded 100 ppm of atrazine in 90 min. Atrazine was metabolized to hydroxyatrazine, polar metabolites, and carbon dioxide. When uniformly ring-labeled [(sup14)C]atrazine was used, 80% of the radioactivity was liberated as (sup14)CO(inf2). These data indicated the triazine ring was completely mineralized. The isolation and characterization of Pseudomonas sp. strain ADP may contribute to efforts on atrazine bioremediation, particularly in environments containing very high pesticide levels.
Squalene Synthase Inhibitors (1996)

Abstract: Squalene synthase catalyzes the reductive dimerization of famesyl diphosphate (C-15) to form squalene, the C-30 polyisoprene precursor to cholesterol. In recent years, the search for inhibitors of squalene synthase for use as antihypercholesterolemic agents has intensified. The focus on this enzymatic transformation is due to the unique location of squalene synthase at the first step committed to sterols in the isoprene pathway. Selective inhibitors of this enzyme are expected to block cholesterol biosynthesis, without having deleterious effects on the branch pathways of isoprene biosynthesis. Potent inhibitors of squalene synthase have been discovered utilizing three of the major methods for drug discovery: rational design, synthetic chemical screening and natural products screening. These inhibitors have been shown to be potent and effective cholesterol lowering agents in animal models. This article will review the rationale for squalene synthase as a drug discovery target, recent advances in the biology of squalene synthase, and the progress toward clinically useful inhibitors of this key enzyme.
Role of Rta in the Translation of Bicistronic BZLF1 of Epstein-Barr Virus (1998)

The BZLF1 gene of Epstein-Barr virus (EBV), which encodes a transcription factor, Zta, is transcribed into monocistronic and bicistronic mRNAs from two different promoters during the immediate-early stage of the EBV lytic cycle. It is generally accepted that the Zta protein translated from the monocistronic mRNA profoundly influences the activation of the EBV lytic cycle. In this study, we constructed a plasmid, pCMV-RZLUC, which can transcribe a bicistronic mRNA consisting of BRLF1 and a BZLF1-luc fusion gene under latent conditions. P3HR1 cells transfected with this plasmid produce a luciferase activity which is approximately 17-fold higher than the activity exhibited by pRZLUC, a plasmid incapable of transcribing the bicistronic mRNA. Genetic analyses indicated that mutations in BRLF1 not only can decrease the translation of the fusion gene from the bicistronic mRNA but can also be complemented by a functional BRLF1 gene in cis. This observation implies that the product of BRLF1, Rta, is involved in the translation of the downstream gene. Results presented herein also demonstrate that these mutations cannot be complemented in trans with a plasmid overexpressing Rta, suggesting that the amount of Rta in the vicinity of the intercistronic region may be crucial for the translation. Furthermore, our results correspond to those of previous investigations indicating that the Zta protein can be translated from the bicistronic mRNA and that, similar to the translation of bicistronic ZLUC, mutations in BRLF1 also hinder the translation of Zta from the BRLF1-BZLF1 bicistronic mRNA. Translation of Zta from the bicistronic mRNA may play an essential role in the activation of the EBV lytic cycle.
Development of a Self-Assembled Muscle-Powered Piezoelectric Microgenerator (2004)

As technology advances into a new era of N/MEMS, powering these tiny devices becomes a significant issue. To address this issue, a self-assembled living/nonliving microgenerator has been developed through seamless integration of PVDF-TrFE and neonatal cardiac muscle cell. This microgenerator system can covert glucose into electrical energy, which is of particular interest in engineering applications. Since glucose is ubiquitous inside our body, the microgenerator is especially suitable for powering implantable devices. The calculated peak voltage is approximately 0.45V for each hybrid device with the dimensions 1 mm length, 50µm width, and 10µm thickness. Through monolithic integration with integrated circuits (IC), an integral system of novel BioMEMS can be built that carries potential applications in both health monitoring and biosensing.
The Transmission of AIDS: The Case of the Infected Cell (1988)

CURRENT approaches to preventing infection with the human immunodeficiency virus (HIV) have focused on the retrovirus itself. However, biologic and epidemiologic studies of HIV and the acquired immunodeficiency syndrome (AIDS) indicate that more emphasis should be placed on the virus-infected cell. Several groups of researchers<sup>1-10</sup>have demonstrated the presence of HIV in many different hematopoietic cells, including T and B lymphocytes and macrophages, as See also p 3023. well as in cells (macrophages and endothelial and glial cells) of the brain. These infected cells can survive and serve as reservoirs (factories) for continual virus production and spread. When found in body fluids, they can transfer the infection to other individuals. T-helper lymphocytes generally die after HIV infection,<sup>1-4</sup>but some can replicate HIV to high titer in culture without undergoing cell death.<sup>11</sup>Thus, they too could serve as a source of virus transmission. In studies from our laboratory,
지역사회 정신보건 사업에서의 정신간호사의 역할과 과제 (1994)

In the 30 years following world warll, major changes in concepts of mental health and provision of mental health service have been apparent. These trends are a product of social ideologies, changing public opinion, fiscial conditions, and new technologies. Deinstitutionalization of mental patients was a movement that aims to minimize the amount of care provided by out patient agencies in the community. Case management has been defined as a systematic process of assessment, planning, service coordination and/or referral, and monitoring through which the multiple service needs of clients are met. Nurses are the most qualified professionals to provide case management services to the chronically mentally ill who are living in the community. Case management optimizes the client`s self-care capability and provides for quality health care along a continuum, decreases the fragmentation of care, improves the client`s quality of life, and provides for cost containment by the prevention of unnecessary duplication of services or institutionalization. The nurse case manager is the bridge linking community services with those provided by the mental health clinics. Each nurse case manager will act as provider of services in her field of expertise, as well as coordinator of those services provided by others.
Novel human oncogene lbc detected by transfection with distinct homology regions to signal transduction products. (1994)

In order to isolate transforming genes involved in leukemias, DNA from a CML acute phase sample was transfected into NIH-3T3 cells and found to be tumorigenic in nude mice. Partial genomic cloning using human repeat sequence as probe followed by cDNA cloning of this oncogene, termed lbc, was undertaken. The lbc cDNA sequence shows no identity to known proteins and codes for a predicted hydrophilic protein product of 47 kD, which contains several consensus kinase phosphorylation sites. The N-terminus encodes a consensus E-F hand motif followed by a region of homology to the transforming human oncogene dbl associated with regulatory activity for the ras superfamily of small G proteins, while the C-terminus contains homology with pleckstrin and rac protein kinase in a region which overlaps with the recently defined PH (pleckstrin homology) domain. Lbc expression is restricted to human hematopoietic cells and skeletal muscle, lung and heart. Transfection of 3T3 cells with an expression vector encoding lbc cDNA results in focus formation, demonstrating its biological activity. These data indicate that the lbc oncogene encodes a novel product implicated in distinct cellular signal transduction functions.
Electrophysiological Effects of Long, Linear Atrial Lesions Placed Under Intracardiac Ultrasound Guidance (1997)

Linear lesions that are electrophysiologically transmural and continuous can be placed in the right atrium of normal pigs. With intracardiac echocardiography, adequate tissue contact over several coil electrodes can be ensured, resulting in short procedure times, efficient energy application, and accurate anatomically linked lesion placement.
Purification and biochemical characterization of pullulanase type I from Thermus caldophilus GK-24 (1996)

A thermostable pullulanase (pullulan 6-glucanohydrolase, EC 3.2.1.41) has been purified to homogeneity from Thermus caldophilus GK-24 by Chromatographic methods, including gel-filtration and ion-exchange chromatography. The specific activity of the enzyme was increased 431-fold with a recovery of 13.2%. The purified enzyme was a monomer, Mr= 65 kDa as estimated by SDS-PAGE and gel filtration. The pI was 6.1. The enzyme was most active at pH 5.5. The activity was maximal at 75 °C and stable up to 95 °C for 30 min at pH 5.5. The enzyme was stable to incubation from pH 3.5 to pH 8.0 at 4 °C for 24 h. The activity of the enzyme was stimulated by Mn2+ and Mg2+ ions. Ni2+, Ca2+, Co2+ ions and EDTA did not inhibit the enzyme activity. The enzyme hydrolyzed the α-1,6 linkages of amylopectin, glycogens, α,β-limited dextrin, and pullulan. The enzyme caused the complete hydrolysis of pullulan to maltotriose. The activity was inhibited by α-, β-, or γ-cyclodextrins. The N-terminal sequence [(Ala-Pro-Gln-(Asp or Tyr)-Asn-Leu-Leu-Xaa-ILe-Gly-Ala(Ser)] showed some similarity to those of bacterial pullulanases.