3,082 research outputs found
Single-base substitutions in the CHM promoter as a cause of choroideremia
Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with the X-linked chorioretinal disease choroideremia (CHM), no regulatory mutations have been reported, and indeed the promoter has not been defined. Here, we describe two independent families affected by CHM bearing a mutation outside the gene's coding region at position c.-98: C>A and C>T, which segregated with the disease. The male proband of family 1 was found to lack CHM mRNA and its gene product Rab escort protein 1, whereas whole-genome sequencing of an affected male in family 2 excluded the involvement of any other known retinal genes. Both mutations abrogated luciferase activity when inserted into a reporter construct, and by further employing the luciferase reporter system to assay sequences 5′ to the gene, we identified the CHM promoter as the region encompassing nucleotides c.-119 to c.-76. These findings suggest that the CHM promoter region should be examined in patients with CHM who lack coding sequence mutations, and reveals, for the first time, features of the gene's regulation
An accurate test for homogeneity of odds ratios based on Cochran's Q-statistic
Background: A frequently used statistic for testing homogeneity in a meta-analysis of K independent studies is Cochran's Q. For a standard test of homogeneity the Q statistic is referred to a chi-square distribution with K - 1 degrees of freedom. For the situation in which the effects of the studies are logarithms of odds ratios, the chi-square distribution is much too conservative for moderate size studies, although it may be asymptotically correct as the individual studies become large. Methods: Using a mixture of theoretical results and simulations, we provide formulas to estimate the shape and scale parameters of a gamma distribution to t the distribution of Q. Results: Simulation studies show that the gamma distribution is a good approximation to the distribution for Q. Conclusions: : Use of the gamma distribution instead of the chi-square distribution for Q should eliminate inaccurate inferences in assessing homogeneity in a meta-analysis. (A computer program for implementing this test is provided.) This hypothesis test is competitive with the Breslow-Day test both in accuracy of level and in power
Corrigendum to "Depression, anxiety, and stress mediate the associations between internet gaming disorder, insomnia, and quality of life during the COVID-19 outbreak" [Addict. Behav. Rep. 12 (2020) 100307]
Effect of spinal cord injury upon prostate: adenocarcinoma of prostate in a spinal cord injury patient - a case report
Critical change in the Fermi surface of iron arsenic superconductors at the onset of superconductivity
The phase diagram of a correlated material is the result of a complex
interplay between several degrees of freedom, providing a map of the material's
behavior. One can understand (and ultimately control) the material's ground
state by associating features and regions of the phase diagram, with specific
physical events or underlying quantum mechanical properties. The phase diagram
of the newly discovered iron arsenic high temperature superconductors is
particularly rich and interesting. In the AE(Fe1-xTx)2As2 class (AE being Ca,
Sr, Ba, T being transition metals), the simultaneous structural/magnetic phase
transition that occurs at elevated temperature in the undoped material, splits
and is suppressed by carrier doping, the suppression being complete around
optimal doping. A dome of superconductivity exists with apparent equal ease in
the orthorhombic / antiferromagnetic (AFM) state as well as in the tetragonal
state with no long range magnetic order. The question then is what determines
the critical doping at which superconductivity emerges, if the AFM order is
fully suppressed only at higher doping values. Here we report evidence from
angle resolved photoemission spectroscopy (ARPES) that critical changes in the
Fermi surface (FS) occur at the doping level that marks the onset of
superconductivity. The presence of the AFM order leads to a reconstruction of
the electronic structure, most significantly the appearance of the small hole
pockets at the Fermi level. These hole pockets vanish, i. e. undergo a Lifshitz
transition, at the onset of superconductivity. Superconductivity and magnetism
are competing states in the iron arsenic superconductors. In the presence of
the hole pockets superconductivity is fully suppressed, while in their absence
the two states can coexist.Comment: Updated version accepted in Nature Physic
HIV Prevention in Care and Treatment Settings: Baseline Risk Behaviors among HIV Patients in Kenya, Namibia, and Tanzania.
HIV care and treatment settings provide an opportunity to reach people living with HIV/AIDS (PLHIV) with prevention messages and services. Population-based surveys in sub-Saharan Africa have identified HIV risk behaviors among PLHIV, yet data are limited regarding HIV risk behaviors of PLHIV in clinical care. This paper describes the baseline sociodemographic, HIV transmission risk behaviors, and clinical data of a study evaluating an HIV prevention intervention package for HIV care and treatment clinics in Africa. The study was a longitudinal group-randomized trial in 9 intervention clinics and 9 comparison clinics in Kenya, Namibia, and Tanzania (N = 3538). Baseline participants were mostly female, married, had less than a primary education, and were relatively recently diagnosed with HIV. Fifty-two percent of participants had a partner of negative or unknown status, 24% were not using condoms consistently, and 11% reported STI symptoms in the last 6 months. There were differences in demographic and HIV transmission risk variables by country, indicating the need to consider local context in designing studies and using caution when generalizing findings across African countries. Baseline data from this study indicate that participants were often engaging in HIV transmission risk behaviors, which supports the need for prevention with PLHIV (PwP). TRIAL REGISTRATION: ClinicalTrials.gov NCT01256463
How acceptable are antiretrovirals for the prevention of sexually transmitted HIV? A review of research on the acceptability of oral pre-exposure prophylaxis and treatment as prevention
Recent research has demonstrated how antiretrovirals (ARVs) could be effective in the prevention of sexually transmitted HIV. We review research on the acceptability of oral pre-exposure prophylaxis (PrEP) and treatment as prevention (TasP) for HIV prevention amongst potential users. We consider with whom, where and in what context this research has been conducted, how acceptability has been approached, and what research gaps remain. Findings from 33 studies show a lack of TasP research, PrEP studies which have focused largely on men who have sex with men (MSM) in a US context, and varied measures of acceptability. In order to identify when, where and for whom PrEP and TasP would be most appropriate and effective, research is needed in five areas: acceptability of TasP to people living with HIV; motivation for PrEP use and adherence; current perceptions and management of risk; the impact of broader social and structural factors; and consistent definition and operationalisation of acceptability which moves beyond adherence
Trust Perceptions of Online Travel Information by Different Content Creators: Some Social and Legal Implications
Consumers are increasingly turning to the online
environment to provide information to assist them in
making purchase decisions related to travel products. They
often rely on travel recommendations from different
sources, such as sellers, independent experts and, increasingly,
other consumers. A new type of online content, usergenerated
content (UGC), provides a number of legal and
social challenges to providers and users of that content,
especially in relation to areas such as defamation, misrepresentation
and social embarrassment. This paper reports
research that examined the level of trustworthiness of
online travel information from these different sources. The
study used a survey of Australian travel consumers (n=
12,000) and results support the notion that there are
differences in the level of trust for online travel information
from different sources. Respondents ‘tended to agree’ that
they trusted information provided by travel agents, information
from commercial operators and comments made by
travellers on third party websites. However, the highest
level of trust was afforded to information provided on State
government tourism websites. These results suggest that
greater trust is placed in online travel comments when they
are on a specific travel website than when they are on a
more generic social networking website. However, respondents
were ‘not sure’ that they trusted comments made by
travellers on weblogs and on social networking sites. Some
88% of respondents that had not visited UGC websites (or
were unsure if they had) indicated that they thought that
UGC would be useful in the future – suggesting that they
feel that any concerns they may have in relation to legal and
social problems resulting from its use will be resolved
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