bluuebunny/crossref_metadata_2025_split huggingface dataset:
A distinct cognitive profile in individuals with 3q29 deletion syndrome
Authors: Klaiman Cheryl , White Stormi Pulver , Saulnier Celine , Murphy Melissa , Burrell Lindsey , Cubells Joseph , Walker Elaine ,   The Emory 3q29 Project, Mulle Jennifer Gladys 
Published: March 2021

AbstractBackground3q29 deletion syndrome is associated with mild to moderate intellectual disability. However, a detailed understanding of the deletion’s impact on cognitive ability is lacking. The goal of this study was to address this knowledge gap. A second goal was to ask whether the cognitive impact of the deletion predicted psychopathology in other domains.MethodsWe systematically evaluated cognitive ability, adaptive behavior, and psychopathology in 32 individuals with the canonical 3q29 deletion using gold-standard instruments and a standardized phenotyping protocol.ResultsMean FSIQ was 73 (range 40-99). Verbal subtest score (mean 80, range 31-106) was slightly higher and had a greater range than nonverbal subtest score (mean 75, range 53-98). Spatial ability was evaluated in a subset (n = 24) and was lower than verbal and nonverbal ability (mean 71, range 34-108). There was an average 14-point difference between verbal and nonverbal subset scores; 60% of the time the verbal subset score was higher than the nonverbal subset score. Study subjects with a verbal ability subtest score lower than the nonverbal subtest score were 4 times more likely to have a diagnosis of intellectual disability (suggestive, p-value 0.07). The age at which a child first spoke two-word phrases was strongly associated with measures of verbal ability (p-value 2.56e-07). Cognitive ability was correlated with adaptive behavior measures (correlation 0.42, p-value 0.02). However, though group means found equivalent score, there was, on average, a 10-point gap between these skills (range −33 to 33), in either direction, in about 50% of the sample suggesting that suggesting that cognitive measures only partially inform adaptive ability. Cognitive ability scores did not have any significant relationship to cumulative burden of psychopathology nor to individual neurodevelopmental or psychiatric diagnoses.ConclusionsIndividuals with 3q29 deletion syndrome have a complex pattern of cognitive disability. Two-thirds of individuals with the deletion will exhibit significant strength in verbal ability; this may mask deficits in non-verbal reasoning, leading to an over-estimation of overall ability. Deficits in verbal ability may be the driver of intellectual disability diagnosis. Cognitive ability is not a strong indicator of other neurodevelopmental or psychiatric impairment; thus individuals with 3q29 deletion syndrome who exhibit IQ scores within the normal range should receive all recommended behavioral evaluations.
Endotracheal application of ultraviolet A light in critically ill severe acute respiratory syndrome coronavirus-2 patients: A first-in-human study
Authors: Rezaie Ali , Melmed Gil Y. , Leite Gabriela , Mathur Ruchi , Takakura Will , Pedraza Isabel , Lewis Michael , Murthy Rekha , Chaux George , Pimentel Mark 
Published: March 2021

AbstractBackgroundPromising preclinical experiments show that, under specific and monitored conditions, ultraviolet-A (UVA) exposure reduces certain bacteria, fungi, and viruses including coronavirus-229E without harming mammalian columnar epithelial cells. We aimed to evaluate the safety and effects of UVA therapy administered by a novel device via endotracheal tube in critically ill subjects with SARS-CoV-2 infection.MethodsFive newly intubated mechanically ventilated adults with SARS-CoV-2 infection, with an endotracheal tube size 7.5mm or greater, were treated with UVA for 20 minutes daily for 5 days, and followed for 30 days.ResultsFive subjects were enrolled (mean age 56.6yrs, 3 male). At baseline, all subjects scored 9/10 on the WHO clinical severity scale (10=death) with predicted mortality ranging from 21 to 95%. Average log changes in endotracheal viral load from baseline to day 5 and day 6 were -2.41 (range -1.16 to -4.54; Friedman P=0.002) and -3.20 (range -1.20 to -6.77; Friedman P<0.001), respectively. There were no treatment-emergent adverse events. One subject died 17 days after enrollment due to intracranial hemorrhagic complications of anticoagulation while receiving extracorporeal membrane oxygenation. The remaining subjects clinically improved and scored 2, 4, 5, and 7 on the WHO scale at day 30. In these subjects, the slope of viral load reduction during UVA treatment correlated with the slope of improvement in clinical WHO severity score over time (Spearman rho=1, P<0.001).ConclusionIn this first-in-human study, endotracheal UVA therapy under specific and monitored settings, was safe with a significant reduction in respiratory SARS-CoV-2 viral burden over the treatment period.Trial RegistrationClinicalTrials.gov #NCT04572399.Key MessagesWhat is the key question?Can endotracheal narrow-band UVA therapy be a safe and effective treatment for severe SARS-CoV-2 infection?What is the bottom line?Under specific and monitored settings, endotracheal UVA light therapy may be an effective treatment for SARS-CoV-2 infection. Endotracheal UVA light therapy appears to be well tolerated in critically ill patients with SARS-CoV-2 infection.Why read on?This is the fist-in-human trial of internal UVA therapy using a alternative novel approach to combat COVID-19.
Long-Term Duration of Antibody Response to SARS CoV-2 in One of the Largest Slums of Buenos Aires
Authors: Pagotto Vanina , Luna Lorena , Salto Julieta , Manslau Magdalena Wagner , Figar Silvana , Mistchenko Alicia S. , Boyero Georgina Carciofi , Weinberger Natacha ,   COVIDAR Group, Gómez Saldaño Ana María , Alponte Carla Alpire , Alarcón Patricia Auza , Tarqui Ayelén Copa , Cortez Sheila , Gallardo Pamela , Pinaya Janeth Gemio , Navarro Ángeles Hernandez , Maccio Alejandro , Mosqueda Paula , Neme Nicole , Quispe Bania , Bernal Emilio Ramírez , Soria Thelma , Arce Angélica Fernández , Gamarnik Andrea , de Quirós Fernán González Bernaldo 
Published: March 2021

AbstractThe durability of the antibody response following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections has not been fully elucidated. We have performed a cross-sectional study in one of the largest slums of Buenos Aires, Barrio Padre Mugica in June 2020, detecting a seroprevalence of 53.4%. To evaluate the persistence of the humoral response against SARS-CoV-2 in this area, we designed a second study assessing only the people that were IgG positive in the first survey. The IgG levels against the full spike (S) protein in 175 individuals that were seropositive, at least 6 months before, were evaluated in a second survey. The positivity rate was 92.0%, 161 from 175 individuals remained IgG positive. We observed a contraction in the overall IgG levels measured by ELISA. The median IgG dropped 62% from June to December 2020. Most of the individuals tested (87%) reported to be asymptomatic or oligo-symptomatic. No difference was found between men and women, but people aged less than 50 showed a lower IgG level in each period compared to older individuals. Our data indicate sustained humoral immunity for at least 6 months in a specific socio-economical setting in a population that was mainly asymptomatic for COVID-19.
Elevated mortality among people experiencing homelessness with COVID-19
Authors: Leifheit Kathryn M. , Chaisson Lelia H. , Medina Jesus Alejandro , Wahbi Rafik , Shover Chelsea L. 
Published: March 2021

AbstractWe reviewed publicly available data from major U.S. health jurisdictions to compare case fatality rates in people experiencing homelessness (PEH) to the general population. Case fatality among PEH was 1.3 times (95% CI 1.1, 1.5) that of the general population, suggesting that PEH should be prioritized for vaccination.
Inhibition of peripheral VEGF signaling rapidly reduces leucocyte obstructions in brain capillaries and increases cortical blood flow in an Alzheimer’s disease mouse model
Authors: Ali Muhammad , Falkenhain Kaja , Njiru Brendah N , Murtaza-Ali Muhammad , Ruiz-Uribe Nancy E , Haft-Javaherian Mohammad , Catchers Stall , Nishimura Nozomi , Schaffer Chris B. , Bracko Oliver 
Published: March 2021

AbstractIncreased incidence of stalled capillary blood flow caused by adhesion of leucocytes to the brain microvascular endothelium leads to a 17% reduction of cerebral blood flow (CBF) and exacerbates short-term memory loss in multiple mouse models of Alzheimer’s disease (AD). Here, we report that Vascular Endothelial Growth Factor (VEGF) signaling at the luminal side of the brain microvasculature plays an integral role in the capillary stalling phenomenon of the APP/PS1 mouse model. Administration of the anti-mouse VEGF-A164 antibody, an isoform that inhibits blood brain barrier (BBB) hyperpermeability, reduced the number of stalled capillaries within an hour of injection, leading to an immediate increase in average capillary blood flow but not capillary diameter. VEGF-A inhibition also reduced the overall eNOS protein concentrations, increased occludin levels, and decreased the penetration of circulating Evans Blue dye across the BBB into the brain parenchyma, suggesting increased BBB integrity. Capillaries prone to neutrophil adhesion after anti-VEGF-A treatment also had lower occludin concentrations than flowing capillaries. Taken together, our findings demonstrate that VEGF-A signaling in APP/PS1 mice contributes to aberrant eNOS/occludin- associated BBB permeability, increases the incidence of capillary stalls, and leads to reductions in CBF. Reducing leucocyte adhesion by inhibiting luminal VEGF signaling may provide a novel and well-tolerated strategy for improving brain microvascular blood flow in AD patients.
Detection of HIV and Mycobacterium tuberculosis among University Students in Port Harcourt, Nigeria
Authors: Okonko IO , Cookey TI , Okoli EM 
Published: March 2021

ABSTRACTAssessment of HIV and Mycobacterium tuberculosis infection is crucial to detect HIV and/or Mycobacterium tuberculosis coinfection and the strategy for infection management and treatment. This study assessed the proportion of students with HIV, Mycobacterium tuberculosis, and HIV/Mycobacterium tuberculosis coinfection. Two hundred and thirty-five university students in Port Harcourt, Nigeria were recruited, ages 16 – 39 years. Samples of blood were collected and processed using standard laboratory procedures. All the students were screened for antibodies to HIV using 2 rapid screening strips and a commercially available enzyme-linked immunosorbent assay (ELISA)-based kit for determination of HIV-1/2/P24/O. The presence of Mycobacterium tuberculosis was done using TB rapid kits and a commercially available ELISA-based kit. The results showed that 3.4% of the students were positive for HIV, 2.1% for Mycobacterium tuberculosis and none for HIV/Mycobacterium tuberculosis coinfection. The age-specific infection rate showed a higher HIV infection rate in the age group 16-24 years (4.7%) than ≥25 years (2.8%). While higher Mycobacterium tuberculosis infection rate occurred in the age group ≥25 years (2.8%) than in <25 years (2.3%). The gender-specific infection rate showed that females had a higher infection rate (HIV, 4.7% and Mycobacterium tuberculosis, 2.3%) than males (HIV, 2.6% and Mycobacterium tuberculosis, 1.7%). Age and sex were the main correlates (P<0.05) of HIV and Mycobacterium tuberculosis. This study further confirmed the presence of HIV and Mycobacterium tuberculosis infections among University students. These findings suggest the need for regular screening of University students for HIV and Mycobacterium tuberculosis.
Limb apparent motion perception: modification by tDCS, and clinically or experimentally altered bodily states
Authors: Saetta Gianluca , Ho Jasmine T. , Bekrater-Bodmann Robin , Brugger Peter , Dijkerman H. Chris , Lenggenhager Bigna 
Published: March 2021

AbstractLimb apparent motion perception (LAMP) refers to the illusory visual perception of a moving limb upon observing two rapidly alternating photographs depicting the same limb in two different postures. Fast stimulus onset asynchronies (SOAs) induce the more visually guided perception of physically impossible movements. Slow SOAs induce the perception of physically possible movements. According to the motor theory of LAMP, the latter perception depends upon the observers’ sensorimotor representations. Here, we tested this theory in two independent studies by performing a central (study 1) and peripheral (study 2) manipulation of the body’s sensorimotor states during two LAMP tasks. In the first sham-controlled transcranial direct current stimulation between-subject designed study, we observed that the dampening of left sensorimotor cortex activity through cathodal stimulation biased LAMP towards the more visually guided perception of physically impossible movements for stimulus pairs at slow SOAs. In the second, online within-subject designed study, we tested three participant groups twice: (1) individuals with an acquired lower limb amputation, either while wearing or not wearing their prosthesis; (2) individuals with body integrity dysphoria (i.e., with a desire for amputation of a healthy leg) while sitting in a regular position or binding up the undesired leg (to simulate the desired amputation); (3) able-bodied individuals while sitting in a normal position or sitting on one of their legs. We found that the momentary sensorimotor state crucially impacted LAMP in individuals with an amputation and able-bodied participants, but not in BID individuals. Taken together, the results of these two studies substantiate the motor theory of LAMP.
Latency structure of BOLD signals within white matter in resting-state fMRI
Authors: Guo Bin , Zhou Fugen , Li Muwei , Gore John C. 
Published: March 2021

AbstractPurposePrevious studies have demonstrated that BOLD signals in gray matter in resting-state functional MRI (RSfMRI) have variable time lags, representing apparent propagations of fMRI BOLD signals in gray matter. We complemented existing findings and explored the corresponding variations of signal latencies in white matter.MethodsWe used data from the Brain Genomics Superstruct Project, consisting of 1412 subjects (both sexes included) and divided the dataset into ten equal groups to study both the patterns and reproducibility of latency estimates within white matter. We constructed latency matrices by computing cross-correlations between voxel pairs. We also applied a clustering analysis to identify functional networks within white matter, based on which latency analysis was also performed to investigate lead/lag relationship at network level. A dataset consisting of various sensory states (eyes closed, eyes open and eyes open with fixation) was also included to examine the relationship between latency structure and different states.ResultsProjections of voxel latencies from the latency matrices were highly correlated (average Pearson correlation coefficient = 0.89) across the subgroups, confirming the reproducibility and structure of signal lags in white matter. Analysis of latencies within and between networks revealed a similar pattern of inter- and intra-network communication to that reported for gray matter. Moreover, a dominant direction, from inferior to superior regions, of BOLD signal propagation was revealed by higher resolution clustering. The variations of lag structure within white matter are associated with different sensory states.ConclusionsThese findings provide additional insight into the character and roles of white matter BOLD signals in brain functions.
Persistence of symptoms up to 10 months following acute COVID-19 illness
Authors: Perlis Roy H. , Green Jon , Santillana Mauricio , Lazer David , Ognyanova Katherine , Simonson Matthew , Baum Matthew A. , Quintana Alexi , Chwe Hanyu , Druckman James , Volpe John Della , Lin Jennifer 
Published: March 2021

AbstractImportanceCOVID-19 symptoms are increasingly recognized to persist among a subset of individual following acute infection, but features associated with this persistence are not well-understood.ObjectiveWe aimed to identify individual features that predicted persistence of symptoms over at least 2 months at the time of survey completion.Design: Non-probability internet survey. Participants were asked to identify features of acute illness as well as persistence of symptoms at time of study completion. We used logistic regression models to examine association between sociodemographic and clinical features and persistence of symptoms at or beyond 2 months.SettingTen waves of a fifty-state survey between June 13, 2020 and January 13, 2021.Participants6,211 individuals who reported symptomatic COVID-19 illness confirmed by positive test or clinician diagnosis.Exposuresymptomatic COVID-19 illnessResultsAmong 6,211 survey respondents reporting COVID-19 illness, with a mean age of 37.8 (SD 12.2) years and 45.1% female, 73.9% white, 10.0% Black, 9.9% Hispanic, and 3.1% Asian, a total of 4946 (79.6%) had recovered within less than 2 months, while 491 (7.9%) experienced symptoms for 2 months or more. Of the full cohort, 3.4% were symptomatic for 4 months or more and 2.2% for 6 months or more. In univariate analyses, individuals with persistent symptoms on average reported greater initial severity. In logistic regression models, older age was associated with greater risk of persistence (OR 1.10, 95% CI 1.01-1.19 for each decade beyond 40); otherwise, no significant associations with persistence were identified for gender, race/ethnicity, or income. Presence of headache was significantly associated with greater likelihood of persistence (OR 1.44, 95% CI 1.11-1.86), while fever was associated with diminished likelihood of persistence (OR 0.66, 95% CI 0.53-0.83).Conclusion and RelevanceA subset of individuals experience persistent symptoms from 2 to more than 10 months after acute COVID-19 illness, particularly those who recall headache and absence of fever. In light of this prevalence, strategies for predicting and managing such sequelae are needed.Trial RegistrationNAKey PointsQuestionWhich individuals are at greatest risk for post-acute sequelae of COVID-19?FindingsIn this non-probability internet survey, among 6,211 individuals with symptomatic COVID-19 illness, 7.9% experienced persistence of symptoms lasting 2 months or longer. Older age, but not other sociodemographic features, was associated with risk for persistence, as was headache.MeaningIdentifying individuals at greater risk for symptomatic persistence may facilitate development of targeted interventions.
U5 snRNA interactions with exons ensure splicing precision
Authors: Artemyeva-Isman Olga V. , Porter Andrew C.G. 
Published: March 2021

AbstractImperfect conservation of human pre-mRNA splice sites is necessary to produce alternative isoforms. This flexibility is combined with precision of the message reading frame. Apart from intron-termini GU_AG and the branchpoint A, the most conserved are the exon-end guanine and +5G of the intron-start. Association between these guanines cannot be explained solely by base-pairing with U1snRNA in the early spliceosome complex. U6 succeeds U1 and pairs +5G in the pre-catalytic spliceosome, while U5 binds the exon-end. Current U5snRNA reconstructions by CryoEM cannot explain the conservation of the exon-end G. Conversely, human mutation analyses show that guanines of both exon-termini can suppress splicing mutations. Our U5 hypothesis explains the mechanism of splicing precision and the role of these conserved guanines in the pre-catalytic spliceosome. We propose: 1) Optimal binding register for human exons and U5 - the exon junction positioned at U5Loop1 C39|C38. 2) Common mechanism of base pairing of human U5snRNA with diverse exons and bacterialLl.LtrB intron with new loci in retrotransposition - guided by base pair geometry. 3) U5 plays a significant role in specific exon recognition in the pre-catalytic spliceosome. Our statistical analyses show increased U5 Watson-Crick pairs with the 5’exon in the absence of +5G at the intron-start. In 5’exon positions -3 and -5 this effect is specific to U5snRNA rather than U1snRNA of the early spliceosome. Increased U5 Watson-Crick pairs with 3’exon position +1 coincide with substitutions of the conserved -3C at the intron 3’end. Based on mutation and X-ray evidence we propose that -3C pairs with U2 G31juxtaposing the branchpoint and the 3’intron-end. The intron-termini pair, formed in the pre-catalytic spliceosome to be ready for transition after branching, and the early involvement of the 3’intron-end ensure that the 3’exon contacts U5 in the pre-catalytic complex. We suggest that splicing precision is safeguarded cooperatively by U5, U6 and U2snRNAs that stabilise the pre-catalytic complex by Watson-Crick base pairing. In addition, our new U5 model explains the splicing effect of exon-start +1G mutations: U5 Watson-Crick pairs with exon +2C/+3G strongly promote exon inclusion. We discuss potential applications for snRNA-therapeutics and gene repair by reverse splicing.
Simultaneous equations modelling of communities with interacting species networks
Authors: Porto Miguel , Beja Pedro 
Published: March 2021

AbstractTo understand community assembly, ecologists have long sought to extract the signal of biotic interactions from species co-occurrence patterns. These efforts face multiple difficulties such as confounding environmental effects, confounding indirect interactions between multiple species and asymmetry of interactions. To address these problems, we propose Simultaneous Community Equations Modelling (SCEM) as a framework to explicitly account for asymmetric interaction networks in community models. SCEM uses a system of equations to model the occurrence of each species as a function of measured and unmeasured (latent) environmental predictors, and the occurrence of potentially all the other species in the community. Biotic interactions most supported by the data are identified using heuristic optimization of a parsimony criterion, implemented as a Genetic Algorithm. Extensive simulations show that SCEM can recover interaction network topologies in virtual communities. We present a software to implement SCEM and illustrate its application with a case study.
Nitric oxide synthases from photosynthetic organisms improve growth and confer nitrosative stress tolerance inE. coli. Insights on the pterin cofactor
Authors: Correa-Aragunde Natalia , Nejamkin Andrés , Del Castello Fiorella , Foresi Noelia , Lamattina Lorenzo 
Published: March 2021

AbstractNitric oxide synthase (NOS) synthesizes NO from the substrate L-arginine (Arg). NOS with distinct biochemical properties were characterized from two photosynthetic microorganisms, the unicellular algaeOstreococcus tauri(OtNOS) and the cyanobacteriaSynechococcusPCC 7335 (SyNOS). In this work we studied OtNOS and SyNOS recombinantly expressed inE. coliand analyzed bacterial growth and tolerance to nitrosative stress. Results show that the expression of OtNOS and SyNOS promotes bacterial growth and allows metabolizing Arg as N source. In accordance to a high NO producing activity, OtNOS expression induces thehmpflavohemoglobin inE. coli, suggesting that this strain is sensing nitrosative stress. The addition of 1 mM of the NO donor sodium nitroprusside (SNP) is toxic and generates a strong nitrosative stress. The expression of OtNOS or SyNOS reduced SNP toxicity restoring bacterial growth. Finally, using bioinformatic tools and ligand docking analyses, we propose tetrahydromonapterin (MH4), an endogenous pterin found inE. coli, as potential cofactor required for NOS catalytic activity. Our findings could be useful for the development of biotechnological applications using NOS expression to improve growth in bacteria.Key points- The NO synthase (NOS) from photosynthetic microorganisms were expressed inE. coli- Expression of NOS increases bacterial growth and tolerance to nitrosative stress.- Ligand docking analyses indicate tetrahydromonapterin (MH4) as potential NOS cofactor inE. coli.