Miracle-dz/UniFAR-FTUs huggingface dataset:
RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOME OTHER THAN CHROMOSOMES 13, 18, 20, AND 21: KARYOTYPE/PHENOTYPE CORRELATIONS

In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47,+2; 2 of 46/47,+3; 2 of 46/47,+4; 5 of 46/47,+5; 3 of 46/47,+6; 8 of 46/47,+7; 14 of 46/47,+8; 25 of 46/47,+9; 2 of 46/47,+11; 23 of 46/47,+12; 5 of 46/47,+14; 11 of 46/47,+15; 21 of 46/47,+16; 7 of 46/47,+17; 1 of 46/47,+19; and 11 of 46/47,+22. As to the risk of an abnormal outcome, the data showed a very high risk (>60 per cent) for 46/47,+2, 46/47,+16, and 46/47,+22; a high risk (40–59 per cent) for 46/47,+5, 46/47,+9, 46/47,+14, and 46/47,+15; a moderately high risk (20–39 per cent) for 46/47,+12; a moderate risk (up to 19 per cent) for 46/47,+7 and 46/47,+8; a low risk for 46/47,+17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47,+8 and 46/47,+9, PUBS is of limited value for prenatal diagnosis of rare trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely. © 1997 by John Wiley & Sons, Ltd.
The effect of conformation on the CD of interacting helices: A theoretical study of tropomyosin

A recent report [M. E. Holtzer, et al. (1988) Biophysics Journal, 53, 96a] of the anomalous CD spectum of the tropomyosin (TM) fragment 11TM127 motivated us to model the system as two 21‐residue α‐helices distorted to a coiled‐coil conformation. We used strong‐coupling exciton theory to model the optical properties of the system. Two backbone amide excited states (nπ* and ππ*) were considered, as well as four excited states (Lb, La, Bb, Ba) for the phenolic side chain. We calculated the effect of superhelix formation on the backbone CD spectrum. The decrease in molar ellipticity of the α‐helix parallel‐polarized transition at 208 nm was found to be a simple function of superhelix tilt angle. We then modeled a coiled coil (radius = 5.5 Å, pitch = −140 Å) with one aromatic ring per superhelix. Steric interactions between aromatic side chains in a coiled coil were calculated as a function of side‐chain conformation and heptet position. Steric interactions between phenolic rings will be significant for heptet positions a and d, but not for positions b, c, e, f, or g. We calculated the phenolic Lb transition rotational strength as a function of position within the heptet repeats, and of all possible side‐chain dihedral angles, X1 and X2. When tyrosines were placed at heptet positions b, c, e, f, or g, the rotational‐strength surface was nearly identical to that of a single tyrosine in an undistorted helix. In contrast, the rotational‐strength surface for tyrosines in heptet positions a or d showed substantial intertyrosine coupling components. The rotational‐strength surfaces for the three types of heptet positions (position a, position d, and the others) allowed an interpretation of the aromatic CD spectra of TM and its fragments. It was predicted that the three types of heptet positions will be spectroscopically distinguishable.
Mapping the Agonist-binding Site of GABAB Type 1 Subunit Sheds Light on the Activation Process of GABABReceptors*

The γ-amino-n-butyric acid type B (GABAB) receptor is composed of two subunits, GABAB1 and GABAB2, belonging to the family 3 heptahelix receptors. These proteins possess two domains, a seven transmembrane core and an extracellular domain containing the agonist binding site. This binding domain is likely to fold like bacterial periplasmic binding proteins that are constituted of two lobes that close upon ligand binding. Here, using molecular modeling and site-directed mutagenesis, we have identified residues in the GABAB1 subunit that are critical for agonist binding and activation of the heteromeric receptor. Our data suggest that two residues (Ser246 and Asp471) located within lobe I form H bonds and a salt bridge with carboxylic and amino groups of GABA, respectively, demonstrating the pivotal role of lobe I in agonist binding. Interestingly, our data also suggest that a residue within lobe II (Tyr366) interacts with the agonists in a closed form model of the binding domain, and its mutation into Ala converts the agonist baclofen into an antagonist. These data demonstrate the pivotal role played by the GABAB1 subunit in the activation of the heteromeric GABAB receptor and are consistent with the idea that a closed state of the binding domain of family 3 receptors is required for their activation.
A Review of Rural Healthcare System Weaknesses in China: Moving toward Universal Coverage by Applying the Benchmarks of Fairness

This thesis is the first review of China’s rural health care system in the context of the latest healthcare reform settings, which applies the Benchmarks of Fairness. The Benchmarks of Fairness is a tool designed to evaluate issues related to health equity by indicating the factors that need to be improved in order to achieve fair health services. Accompanying by the rapid economic growth since 1980s, the health status of the whole population has been improved greatly, while some negative effects also appeared, particularly the rising medical spending, and the health inequalities between rural and urban areas. Chinese government has made many efforts to shorten the gap. The government reasserted its role in the health sector in 2009, and provided a huge investment into its healthcare system reform which attempts to achieve the universal health coverage by 2020. Currently, the fragmented national health insurance schemes in China have achieved an increasingly broad yet fairly superficial coverage, with various health benefits package. The 97.48% rural population was covered by the New Rural Cooperative Medical Scheme (NRCMS) in 2011. However, the out-of-pocket payment is still a big burden for rural patients, especially for the poor. There are still many problems which need to be resolved. This thesis provides an overview of weaknesses in the rural healthcare system of China despite aspirations for universal coverage. I first present a brief description of the background, the key concepts and definitions. Then I review the present situation of healthcare in rural China, by introducing NRCMS, showing the condition from both supply and demand side, presenting the health service implementation and utilization. There are several reasons that limitations in the rural healthcare system persist, which I will analyze in this thesis, including market failure and the absence of the government, inequalities in social determinants of health, and unfairness in health care. I discuss the fairness issue with specific reference to Daniels et al.’s (2000) Benchmarks of Fairness. Literature review is used as the main methodology, and some statistical reports are also used as needed. Though it is underfunded and the reimbursement rate is low, NRCMS is successful in some extent. Nevertheless, in order to shorten the rural-urban gap, more improvements are needed and some challenges are still existing, especially the cross-sector cooperation and the dual rural-urban social institute.
Super‐infection with Staphylococcus aureus inhibits influenza virus‐induced type I IFN signalling through impaired STAT1‐STAT2 dimerization

Bacterial super‐infections are a major complication in influenza virus‐infected patients. In response to infection with influenza viruses and bacteria, a complex interplay of cellular signalling mechanisms is initiated, regulating the anti‐pathogen response but also pathogen‐supportive functions. Here, we show that influenza viruses replicate to a higher efficiency in cells co‐infected with Staphylococcus aureus (S. aureus). While cells initially respond with increased induction of interferon beta upon super‐infection, subsequent interferon signalling and interferon‐stimulated gene expression are rather impaired due to a block of STAT1‐STAT2 dimerization. Thus, S. aureus interrupts the first line of defence against influenza viruses, resulting in a boost of viral replication, which may lead to enhanced viral pathogenicity.
Measuring Closing Price Manipulation

We quantify the effects of closing price manipulation on trading characteristics and stock price accuracy using a unique sample of prosecuted manipulation cases. Based on these findings we construct an index of the probability and intensity of closing price manipulation. As well as having regulatory applications, this index can be used to study manipulation in the large number of markets and time periods in which prosecution data are not readily available.
Impact of the North Atlantic Oscillation on Transatlantic Flight Routes and Clear-Air Turbulence

The variation of wind-optimal transatlantic flight routes and their turbulence potential is investigated to understand how upper-level winds and large-scale flow patterns can affect the efficiency and safety of long-haul flights. In this study, the wind-optimal routes (WORs) that minimize the total flight time by considering wind variations are modeled for flights between John F. Kennedy International Airport (JFK) in New York, New York, and Heathrow Airport (LHR) in London, United Kingdom, during two distinct winter periods of abnormally high and low phases of North Atlantic Oscillation (NAO) teleconnection patterns. Eastbound WORs approximate the JFK‐LHR great circle (GC) route following northerly shifted jets in the 1NAO period. Those WORs deviate southward following southerly shifted jets during the 2NAO period, because eastbound WORs fly closely to the prevailing westerly jets to maximize tailwinds. Westbound WORs, however, spread meridionally to avoid the jets near the GC in the 1NAO period to minimize headwinds. In the 2NAO period, westbound WORs are north of the GC because of the southerly shifted jets. Consequently, eastbound WORs are faster but have higher probabilitiesof encountering clear-airturbulencethan westbound ones,becauseeastbound WORsareclose to the jet streams, especially near the cyclonic shear side of the jets in the northern (southern) part of the GC in the1NAO (2NAO) period. This study suggests how predictedteleconnection weather patterns can be used for long-haul strategic flight planning, ultimately contributing to minimizing aviation’s impact on the environment.
Optimal Software Release Time with Patching Considered

Optimal software release policy is a well studied topic in the software reliability literature. However, all existing studies implicitly assume that testing stops at the time of release. Due to the advances in data communication technologies, an increasing number of software producers are providing patches for software defect correction and updates subsequent to a version release. Based on this fact, we propose an alternative release time scheduling policy – a software product is released before the optimal release time calculated by the traditional models and testing continues even after the software is released. Numerical solutions show that the optimal release policy with patching considered reduces the total cost by a significant amount.
Analysis of Liberty Single-Sign-on with Enabled Clients

Web single-sign-on protocols-such as Microsoft passport, Oasis's security assertion markup language (SAML), and the Internet2 project Shibboleth, aim to solve security problems by letting individuals log in to many Internet services while authenticating only once, or at least always in the same way. Enterprises hope that single-sign-on protocols will significantly decrease customer-care costs due to forgotten passwords and increase e-commerce transactions by enhancing the user experience. Commercial interest centers on distributed enterprises and on small federations of enterprises with existing business relationships, such as supply chains. We concentrate on the liberty-enabled client and proxy (LECP) profile. The LECP protocol assumes a special protocol-aware client (the enabled client). We also consider the design of security protocols based on XML and Web services.
State firearm laws, firearm ownership, and safety practices among families of preschool-aged children.

OBJECTIVES We investigated how state-level firearms legislation is associated with firearm ownership and storage among families with preschool-aged children. METHODS Using 2005 nationally representative data from the Early Childhood Longitudinal Study-Birth Cohort (n = 8100), we conducted multinomial regression models to examine the associations between state-level firearms legislation generally, child access prevention (CAP) firearms legislation specifically, and parental firearm ownership and storage safety practices. RESULTS Overall, 8% of families with children aged 4 years living in states with stronger firearm laws and CAP laws owned firearms compared with 24% of families in states with weaker firearm laws and no CAP laws. Storage behaviors of firearm owners differed minimally across legislative contexts. When we controlled for family- and state-level characteristics, we found that firearm legislation and CAP laws interacted to predict ownership and storage behaviors, with unsafe storage least likely among families in states with both CAP laws and stronger firearm legislation. CONCLUSIONS Broader firearm legislation is linked with the efficacy of child-specific legislation in promoting responsible firearm ownership.
Changes in Rapid Eye Movement Sleep Associated with Placebo-Induced Expectations and Analgesia

The experience of a sensory event is extensively shaped by past experience and expectations. Placebo analgesia, one of the most studied models of expectation-mediated effects, can be induced by suggestion of analgesia and conditioning. The present study examined the possibility that sleep might contribute to the consolidation of new expectations and consequently influence the generation of expectation-mediated placebo effects. Strong expectations of analgesia were generated before sleep by conditioning manipulations wherein the intensity of thermal pain stimulation was surreptitiously reduced after the application of a topical placebo cream. Expectations and placebo analgesic effects were measured the following morning and compared with those of a control daytime group without sleep. Although placebo effects were observed in both groups, correlation analysis suggests that the mediating effect of expectations on placebo responses was strongest in the overnight group. Moreover, after exposure to a convincing analgesia experience, the relative duration of rapid eye movement (REM) sleep decreased in subjects showing higher analgesic expectations and placebo responses the next morning. In a third group exposed to less consistent analgesic experiences before sleep, expectations reported in the morning were comparable with other groups. However, expectations were positively correlated with REM sleep and did not emerge as a significant mediator of the analgesic effect. Together, these findings show that sleep-related processes may influence the association between expectations and placebo analgesia and that REM sleep can predict placebo-induced expectations of pain relief. However, equivocal previous experience with treatments may significantly alter the relationship between relief expectation, REM sleep, and placebo effects.
Influence of brand-event personality fit on sport sponsors’ consumer-based brand equity

The purpose of this study was to explore the influence of multi-dimensional brand-event personality fit (BEPF) on sport sponsors’ consumer-based brand equity (CBBE). Two substudies were conducted, where Study 1 was aimed to form the BEPF scale and Study 2 was aimed to examine the structural relationships. Research findings revealed the following direct influences of BEPF on CBBE: (a) the responsibility fit of BEPF would positively influence brand awareness/association and perceived quality; (b) the activity fit of BEPF would positively influence brand loyalty; and (c) the emotionality fit of BEPF would positively influence perceived quality and brand loyalty. Indirect influences included: (a) the responsibility fit of BEPF would positively influence perceived quality via brand awareness/association; (b) the responsibility fit of BEPF would positively influence brand loyalty via brand awareness/association and perceived quality; and (c) the emotionality fit of BEPF would positively influence brand loyalty via perceived quality. The implications, limitations, and suggestions for future research were extensively discussed. INDEX WORDS: Branding, Sport event sponsorship, Brand-event fit, Consumer-based brand equity INFLUENCE OF BRAND-EVENT PERSONALITY FIT ON SPORT SPONSORS’ CONSUMER-BASED BRAND EQUITY
Medications versus cognitive behavior therapy for severely depressed outpatients: mega-analysis of four randomized comparisons.

OBJECTIVE The purpose of this study was to compare the acute outcomes of antidepressant medication and cognitive behavior therapy in the severely depressed outpatient subgroups of four major randomized trials. A secondary objective was to compare the results obtained in the National Institute of Mental Health Treatment of Depression Collaborative Research Program, upon which treatment guidelines have been based, with those obtained in the other three studies. METHOD Outcomes of antidepressant medication and cognitive behavior therapy were compared within each of the four studies separately and for patients aggregated across the four studies. In addition, the outcomes in the antidepressant medication and cognitive behavior therapy conditions of the Treatment of Depression Collaborative Research Program were compared with those obtained in the other three studies. RESULTS The overall effect sizes comparing antidepressant medication to cognitive behavior therapy favored cognitive behavior therapy, but tests comparing the two modalities did not reveal a significant advantage for either modality overall. CONCLUSIONS Cognitive behavior therapy has fared as well as antidepressant medication with severely depressed outpatients in four major comparisons. Until findings emerge from current or future comparative trials, antidepressant medication should not be considered, on the basis of empirical evidence, to be superior to cognitive behavior therapy for the acute treatment of severely depressed outpatients.
Effectiveness and hazards of case finding for a high cholesterol concentration.

OBJECTIVE--To see whether adults with high blood cholesterol concentrations (greater than 6.5 mmol/l) detected by case finding return to their doctor, receive appropriate advice, and report changes in their diet and whether adults found not to have high cholesterol concentrations on case finding are discouraged from changing their diet. DESIGN--Follow up study. SETTING--Seven general practices in the lower Hunter region of Australia. PARTICIPANTS--600 Men and women aged 25-65 who had their blood cholesterol concentrations measured three to four months earlier while attending their general practitioner. Analysis conducted on 552 (92%) who returned follow up postal questionnaires. MEASUREMENTS AND MAIN RESULTS--Of the 125 subjects found to have blood cholesterol concentrations greater than 6.5 mmol/l, 102 (82%) returned to their doctor and 83 of these recalled receiving dietary advice. 93 (75%) Subjects with high concentrations reported changing their diet compared with 72 (46%) subjects with concentrations of greater than 5.5-6.5 mmol/l and 44 (17%) subjects with lower concentrations. Overall 333 (61%) of all respondents who answered reported not changing their diet, the most common reason (nearly half the sample; n = 266) being that their cholesterol concentration was "all right. " Adults without high cholesterol concentrations who returned to their doctor were also significantly more likely to recall their doctor saying that they did not need to lower their concentrations (less than or equal to 5.5 mmol/l = 61%; greater than 5.5-6.5 mmol/l = 12%; greater than 6.5 mmol/l = 5%) and significantly less likely to recall receiving dietary advice (less than or equal to 5.5 mmol/l = 13%; greater than 5.5-6.5 mmol/l = 60%; greater than 6.5 mmol/l = 82%). CONCLUSIONS--High risk strategies which require everyone to be tested for high cholesterol concentrations may interfere with population strategies designed to reduce everyone's dietary intake of fat.
A LONGITUDINAL STUDY OF THE AGE‐DEPENDENCE OF HUMAN OCULAR REFRACTION‐I. AGE‐DEPENDENT CHANGES IN THE EQUIVALENT SPHERE

Following on from a cross‐sectional analysis of refraction data (Saunders, 1981), the present paper attempts the evaluation of serial recordings of a new sample of refractive corrections using longitudinal methods. This study compares the results of the cross‐sectional and longitudinal methods, investigates whether or not the latter supports the conclusions of the former, examines to what accuracy this is achieved and, where the results differ, seeks a reason for this. It is demonstrated that in spite of such differences the two methods coincide in their conclusions.
Incidence of Vibrio species associated with blue crabs (Callinectes sapidus) collected from Galveston Bay, Texas

Bacteria were readily isolated from the hemolymph of a majority (88%) of the blue crabs collected from Galveston Bay, Texas. The hemolymph of most crabs contained moderate (greater than 10(3) bacteria/ml) to heavy (greater than (10(5) bacteria/ml) infections. Large variances were observed in the bacterial number associated with individual crabs, but no significant difference was observed between the mean bacterial levels in the hemolymph of crabs collected during different seasons of the sampling year. Vibrio spp. were the predominant bacterial types in the hemolymph of infected crabs and increased in number significantly during the summer season. Warmer water temperatures were thought to be responsible for this increase. Bacterial numbers and the percentage of Vibrio spp. were highest in the interior of the crab bodies, especially in the digestive tract. The exterior of the crabs did not appear to be the source of the hemolymph's bacterial flora. Bacteria taxonomically identical to Vibrio cholerae. V. vulnificus, and V. parahaemolyticus were routinely isolated from the crab hemolymph and external carapace. V. parahaemolyticus was the most prevalent of the pathogenic Vibrio spp. and was isolated from 23% of the hemolymph samples. V. vulnificus (7%) and V. cholerae (2%) occurred less commonly in the hemolymph. The incidences of V. parachaemolyticus and V. vulnificus were related and increased in the summer months. Both organisms were frequently isolated from the same crab.