Current sight-centered designs and services in library and information science (LIS) do not effectively support blind and visually impaired (BVI) users. Simultaneously, there is a lack of studies ...focused on the research methods utilized in BVI research. This study analyzed 165 research papers retrieved from four LIS databases over a 40-year period. The uniqueness of BVI research methods on research design, data collection, and data analysis is highlighted. While survey and experiment are the two most commonly applied research designs in LIS research, survey and evaluation are the main research designs for BVI research. Concurrently, assessment report is a unique data collection method employed. More quantitative analysis was also applied in BVI research, and most of the qualitative analysis was not specified. This study reveals an opportunity to enhance the diverse approaches to BVI research and further satisfy BVI users' unique needs.
•Research methods applied to LIS studies of blind and visually impaired (BVI) users were examined for the first time.•Survey and evaluation were the main research designs for BVI research.•Assessment report was identified as a unique data collection method employed in BVI research.•BVI research involved more quantitative than qualitative analysis and was mostly descriptive.
OBJECTIVE:To describe the clinical experience with noninvasive prenatal testing for fetal sex chromosomes using sequencing of maternal plasma cell-free DNA in a commercial laboratory.
METHODS:A ...noninvasive prenatal testing laboratory data set was examined for samples in which fetal sex chromosomes were reported. Available clinical outcomes were reviewed.
RESULTS:Of 18,161 samples with sex chromosome results, no sex chromosome aneuploidy was detected in 98.9% and the fetal sex was reported as XY (9,236) or XX (8,721). In 4 of 32 cases in which the fetal sex was reportedly discordant between noninvasive prenatal testing and karyotype or ultrasonogram, a potential biological reason for the discordance exists, including two cases of documented co-twin demise, one case of a maternal kidney transplant from a male donor, and one case of fetal ambiguous genitalia. In the remaining 204 samples (1.1%), one of four sex chromosome aneuploidies (monosomy X, XXX, XXY, or XYY) was detected. The frequency of false positive results for sex chromosome aneuploidies is a minimum of 0.26% and a maximum of 1.05%. All but one of the discordant sex chromosome aneuploidy results involved the X chromosome. In two putative false-positive XXX cases, maternal XXX was confirmed by karyotype. For the false-positive cases, mean maternal age was significantly higher in monosomy X (P<.001) and lower in XXX (P=.008).
CONCLUSION:Noninvasive prenatal testing results for sex chromosome aneuploidy can be confounded by maternal or fetal biological phenomena. When a discordant noninvasive prenatal testing result is encountered, resolution requires additional maternal history, detailed fetal ultrasonography, and determination of fetal and possibly maternal karyotypes.
LEVEL OF EVIDENCE:II
Background
Glutathione S‐transferase A4‐4 (GSTA4) is a key enzyme for removal of toxic lipid peroxidation products such as 4‐hydroxynonenal (4‐HNE). In this study, we examined the potential role of ...GSTA4 on protein carbonylation and progression of alcoholic liver disease by examining the development of liver injury in male wild‐type (WT) SV/J mice and SV/J mice lacking functional GSTA4 (GSTA4−/− mice).
Methods
Adult male WT and GSTA4−/− mice were fed chow (N = 10 to 12) or high‐fat Lieber‐DeCarli liquid diets containing up to 28% calories as ethanol (EtOH) (N = 18 to 20) for 116 days. At the end of the study, half of the EtOH‐fed mice were acutely challenged with an EtOH binge (3 g/kg given intragastrically) 12 hours before sacrifice. Carbonylation of liver proteins was assessed by immunohistochemical staining for 4‐HNE adduction and by comprehensive liquid chromatography–tandem mass spectrometry (LC‐MS/MS) of purified carbonylated proteins.
Results
Chronic EtOH intake significantly increased hepatic 4‐HNE adduction and protein carbonylation, including carbonylation of ribosomal proteins. EtOH intake also resulted in steatosis and increased serum alanine aminotransferase. Hepatic infiltration with B cells, T cells, and neutrophils and mRNA expression of pro‐inflammatory cytokines tumor necrosis factor (TNF)α and interferon (IFN)γ was modest in WT mice. However, an EtOH binge increased hepatic necrosis, hepatic cell proliferation, and expression of TNFα mRNA (p < 0.05). EtOH treatment of GSTA4−/− mice increased B‐cell infiltration and increased mRNA expression of TNFα and IFNγ and of matrix remodeling markers MMP9, MMP13, and Col1A1 (p < 0.05). GSTA4−/− mice exhibited panlobular rather than periportal distribution of 4‐HNE‐adducted proteins and increased overall 4‐HNE staining after EtOH binge. Comprehensive LC‐MS of carbonylated proteins identified 1,022 proteins of which 189 were unique to the GSTA4−/− group.
Conclusions
These data suggest long‐term adaptation to EtOH in WT mice does not occur in GSTA4−/− mice. Products of lipid peroxidation appear to play a role in inflammatory responses due to EtOH. And EtOH effects on B‐cell infiltration and autoimmune responses may be secondary to formation of carbonyl adducts.
Chronic EtOH consumption results in a periportal accumulation (PT) of proteins that are post‐translationally modified by 4‐Hydroxy‐2‐nonenal. Using mice that lack expression of the 4‐Hydroxy‐2‐nonenal metabolizing enzyme GSTA4‐4, research herein provides evidence that GSTA4‐4 is critical in mitigating the accumulation of 4‐HNE modified proteins and therefore oxidative injury within the centrilobular region (CV) during chronic ethanol consumption.
AbstractObjectiveTo estimate the effect of extracorporeal membrane oxygenation (ECMO) compared with conventional mechanical ventilation on outcomes of patients with covid-19 associated respiratory ...failure.DesignObservational study.Setting30 countries across five continents, 3 January 2020 to 29 August 2021.Participants7345 adults admitted to the intensive care unit with clinically suspected or laboratory confirmed SARS-CoV-2 infection.InterventionsECMO in patients with a partial pressure of arterial oxygen to fraction of inspired oxygen (PaO2/FiO2) ratio <80 mm Hg compared with conventional mechanical ventilation without ECMO.Main outcome measureThe primary outcome was hospital mortality within 60 days of admission to the intensive care unit. Adherence adjusted estimates were calculated using marginal structural models with inverse probability weighting, accounting for competing events and for baseline and time varying confounding.Results844 of 7345 eligible patients (11.5%) received ECMO at any time point during follow-up. Adherence adjusted mortality was 26.0% (95% confidence interval 24.5% to 27.5%) for a treatment strategy that included ECMO if the PaO2/FiO2 ratio decreased <80 mm Hg compared with 33.2% (31.8% to 34.6%) had patients received conventional treatment without ECMO (risk difference –7.1%, 95% confidence interval –8.2% to –6.1%; risk ratio 0.78, 95% confidence interval 0.75 to 0.82). In secondary analyses, ECMO was most effective in patients aged <65 years and with a PaO2/FiO2 <80 mm Hg or with driving pressures >15 cmH2O during the first 10 days of mechanical ventilation.ConclusionsECMO was associated with a reduction in mortality in selected adults with covid-19 associated respiratory failure. Age, severity of hypoxaemia, and duration and intensity of mechanical ventilation were found to be modifiers of treatment effectiveness and should be considered when deciding to initiate ECMO in patients with covid-19.
The West Antarctic Peninsula (WAP) is home to large breeding colonies of the ice-dependent Antarctic Adelie penguin (Pygoscelis adeliae). Although the entire inner continental shelf is highly ...productive, with abundant phytoplankton and krill populations, penguin colonies are distributed heterogeneously along the WAP (Ducklow et al., 2013, in this issue). This ecological conundrum targets a long-standing question of interest: what environmental factors structure the locations of Adelie penguin "hot spots" throughout the WAP?
Hispanic individuals comprise the largest immigrant group in the United States, consisting of 55.3 million individuals (Lewis, 2017). Of this group, 23.5% reside in poverty and 24.3% lack health ...insurance (Lewis, 2017). Latinx populations have the highest uninsured rate compared to other ethnic/racial groups in the United States (DeNavas-Walt, Proctor, & Lee, 2006). Unfortunately, systemic and structural factors contribute to disparate health outcomes for this population. Rural Latinx immigrant populations face even greater barriers to access adequate behavioral and medical health care. Informed by the Psychosocial Stress Model of Health Disparities, this article argues for the utility of integrated behavioral health care to reduce health disparities among racial-ethnic minority groups, most especially rural Latinx immigrants. Moreover, we recommend the integration of telepsychology services to further enhance access to care for this population. Academic training programs are positioned well to establish these services and positively impact health disparities. We outline a psychosocial and contextually driven solution to establish integrated telepsychology behavioral health care training clinics. Specific details regarding the establishment of integrated behavioral health care specialty training, and recommendations for the utility of telepsychology, are provided.
What is the significance of this article for the general public?
This paper discusses the importance of integrated behavioral health care via telepsychology with rural Latinx populations. Additionally, it highlights the importance of specialized training in telepsychology with rural Latinx populations and provides training and future research recommendations.
The
OceanGliders
program started in 2016 to support active coordination and enhancement of global glider activity.
OceanGliders
contributes to the international efforts of the Global Ocean ...Observation System (GOOS) for Climate, Ocean Health, and Operational Services. It brings together marine scientists and engineers operating gliders around the world: (1) to observe the long-term physical, biogeochemical, and biological ocean processes and phenomena that are relevant for societal applications; and, (2) to contribute to the GOOS through real-time and delayed mode data dissemination. The
OceanGliders
program is distributed across national and regional observing systems and significantly contributes to integrated, multi-scale and multi-platform sampling strategies.
OceanGliders
shares best practices, requirements, and scientific knowledge needed for glider operations, data collection and analysis. It also monitors global glider activity and supports the dissemination of glider data through regional and global databases, in real-time and delayed modes, facilitating data access to the wider community.
OceanGliders
currently supports national, regional and global initiatives to maintain and expand the capabilities and application of gliders to meet key global challenges such as improved measurement of ocean boundary currents, water transformation and storm forecast.
The role of neuromuscular blocking agents (NMBAs) in coronavirus disease 2019 (COVID-19) acute respiratory distress syndrome (ARDS) is not fully elucidated. Therefore, we aimed to investigate in ...COVID-19 patients with moderate-to-severe ARDS the impact of early use of NMBAs on 90-day mortality, through propensity score (PS) matching analysis.
We analyzed a convenience sample of patients with COVID-19 and moderate-to-severe ARDS, admitted to 244 intensive care units within the COVID-19 Critical Care Consortium, from February 1, 2020, through October 31, 2021. Patients undergoing at least 2 days and up to 3 consecutive days of NMBAs (NMBA treatment), within 48 h from commencement of IMV were compared with subjects who did not receive NMBAs or only upon commencement of IMV (control). The primary objective in the PS-matched cohort was comparison between groups in 90-day in-hospital mortality, assessed through Cox proportional hazard modeling. Secondary objectives were comparisons in the numbers of ventilator-free days (VFD) between day 1 and day 28 and between day 1 and 90 through competing risk regression.
Data from 1953 patients were included. After propensity score matching, 210 cases from each group were well matched. In the PS-matched cohort, mean (± SD) age was 60.3 ± 13.2 years and 296 (70.5%) were male and the most common comorbidities were hypertension (56.9%), obesity (41.1%), and diabetes (30.0%). The unadjusted hazard ratio (HR) for death at 90 days in the NMBA treatment vs control group was 1.12 (95% CI 0.79, 1.59, p = 0.534). After adjustment for smoking habit and critical therapeutic covariates, the HR was 1.07 (95% CI 0.72, 1.61, p = 0.729). At 28 days, VFD were 16 (IQR 0-25) and 25 (IQR 7-26) in the NMBA treatment and control groups, respectively (sub-hazard ratio 0.82, 95% CI 0.67, 1.00, p = 0.055). At 90 days, VFD were 77 (IQR 0-87) and 87 (IQR 0-88) (sub-hazard ratio 0.86 (95% CI 0.69, 1.07; p = 0.177).
In patients with COVID-19 and moderate-to-severe ARDS, short course of NMBA treatment, applied early, did not significantly improve 90-day mortality and VFD. In the absence of definitive data from clinical trials, NMBAs should be indicated cautiously in this setting.
Background
Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with characteristic dysmorphology primarily caused by biallelic pathogenic germline variants in any of 22 ...different DNA repair genes. There are limited data on the specific molecular causes of FA in different ethnic groups.
Methods
We performed exome sequencing and copy number variant analyses on 19 patients with FA from 17 families undergoing hematopoietic cell transplantation evaluation in Pakistan. The scientific literature was reviewed, and we curated germline variants reported in patients with FA from South Asia and the Middle East.
Results
The genetic causes of FA were identified in 14 of the 17 families: seven FANCA, two FANCC, one FANCF, two FANCG, and two FANCL. Homozygous and compound heterozygous variants were present in 12 and two families, respectively. Nine families carried variants previously reported as pathogenic, including two families with the South Asian FANCL founder variant. We also identified five novel likely deleterious variants in FANCA, FANCF, and FANCG in affected patients.
Conclusions
Our study supports the importance of determining the genomic landscape of FA in diverse populations, in order to improve understanding of FA etiology and assist in the counseling of families.
Fanconi anemia (FA) primarily caused by biallelic pathogenic germline variants in any of 22 different DNA repair genes but there are limited data on the specific FA gene variants in cases from the Middle East and South Asia. We identified novel and known genetic causes of FA in 14 of 17 families from Pakistan. Our study supports the importance of determining the genomic landscape of FA in diverse populations, in order to improve understanding of FA etiology and assist in the counseling of families.
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