bluuebunny/crossref_metadata_2025_split huggingface dataset:
Admixture mapping screening of CKD traits and risk factors in U.S. Hispanic/Latino individuals from Central America country-of-origin
Authors: Horimoto Andrea R.V.R. , Sun Quan , Lash James P. , Daviglus Martha L. , Cai Jianwen , Haack Karin , Cole Shelley A , Thornton Timothy A. , Browning Sharon R. , Franceschini Nora 
Published: June 2022

AbstractChronic kidney disease (CKD) is prevalent in Central America and ancestry-specific factors may contribute to CKD risk. To understand the genetic ancestry influences on CKD susceptibility, we conducted an admixture mapping of CKD traits and risk factors on 1,023 participants of the Hispanic Community Health Study/Study of Latinos who reported four-grandparents originating from the same Central America country. Admixture mapping signals were validated on 8,191 African Americans from the Women’s Health Initiative, 3,141 American Indians from the Strong Heart Study and 197,272 White individuals from the Million Veterans Program. We identified five novel ancestry-derived loci on chromosomes: 14 for albuminuria; 2, 6 and 9 for CKD; and 3 for type 2 diabetes (T2D). The 14q24.2 locus was validated in American Indians and consisted of two regions spanning theRGS6gene, in which the European (risk) and Native American (protective) ancestries had opposite effects for albuminuria. This locus was also identified using the traditional association mapping. Among the three CKD loci, the 6q25.3 African ancestry-derived locus atARID1Bgene, associated with increased risk for CKD, was validated in African Americans. The T2D locus at 3q22.2 encompasses theEPHB1andKYgenes and was validated in White individuals. U.S. Hispanic/Latino populations are culturally and genetically diverse. Our strategy of using grandparent country-of-origin for selection of a more genetically similar group likely helped the gene discovery. This study of CKD traits and risk factors in individuals from Central America country-of-origin provides new insights into the ancestry-of-origin influences on CKD in this population.
Enormity of anaemia and its determinant factors among lactating mothers in Northern Ghana: A case of nanton district
Authors: Yidaana Adadow , Weyori Enoch Weikem , Wemah Khadijah , Bernard Nkrumah , Abubakari Braimah Baba , Eugene Kuugbee Dogkotenge , Nuertey Benjamin , Yakubu Etowi Boye , Cheba Valentine Koyiri , Kujo Adatsi Richard 
Published: June 2022

AbstractBackgroundAnemia remains one of the most severe and common public health conditions that predominantly affects children and women across the globe. It is defined as a condition in which the hemoglobin (Hb) concentration is less than 11.0 g/dl particularly in women. The World health organization report indicated that 20–50% of the world population was affected by iron deficiency anemia.MethodAn institutional cross-sectional study design was the method used through the data collection and management. Information was sought from four selected health centres across the nanton district with systematic sampling deployed to select respondents of interest. A sample of 420 respondents were obtained and processed for analysis. A bi-variate and multivariate analysis uncovered the associated factors and its predictiveness.ResultsThe prevalence of anaemia in totality was 56.0% (95% CI 51.3%, 60.8%). The divergence of the blood concentration levels between the means of the anaemic and non anaemic group was statistically significance (F-stat=68.233, t-stat=-35.697, p<0.01). The multivariate statistical model showed that, lactating mothers who have suffered malaria episode(s) after delivery had a 94% chance of being anaemic [AOR = 0.054; (95% CI: 0.025, 0.119)]. Lack of post-partum iron supplementation increased the risk of having anaemia [AOR = 15.336; (95% CI: 6.112, 38.483)], and lactating mothers had higher risk [AOR = 1.927, (95% CI: 1.031, 3.602)] of developing anaemia with increasing ‘child’s age beyond three (3) months.ConclusionAnaemia remains very high in lactating mothers attributable to episodes of postpartum malaria, iron supplementation, and increasing ‘child’s age beyond 3 months. There is the need for public health interventions and measures such as extension of folic acid distribution and Intermittent Preventive Therapy (IPT) for malaria program to mothers at postnatal care and child welfare clinics across the region.
Corticosteroid Prescribing Practices at Dermatology Outpatient Departments of Tertiary Care Hospitals: A Multicenter, Cross Sectional Study
Authors: Sultana Nagina , Ferdoush Jannatul , Sarwar Wafa , Towfiq Hossain Sharif Mohammad , Hossain Arifa , Asma Mosammat 
Published: June 2022

AbstractBackgroundIn dermatology, corticosteroids are the most frequently prescribed medication group. The goal of this study was to examine the prescription pattern of glucocorticoids in patients with skin diseases in outpatient dermatology departments (OPD) in tertiary care hospitals.MethodsA prospective, multi-centered, cross-sectional study was undertaken in the dermatology department of government affiliated private medical College hospitals in Chittagong, Bangladesh, from March 2021 to April 2022. A total of 450 prescriptions from dermatology out-patient department patients with skin diseases were obtained and evaluated for demographics, skin diseases, and corticosteroid use patterns.ResultOut of 450 patients, majority belonged to the age group 21-40 years (44%) and were female (56%). The most frequent indication for prescribing corticosteroids were eczema (20%) urticaria (17%) and allergic Contact dermatitis (7%) and psoriasis (7%). The commonest corticosteroids used were betamethasone (19%) and Clobetasol proprionate (17%), Deflazacort (15%). Use of topical steroid combinations with Fusidic acid and Miconazole nitrate were prevalent, (4%) and (5%), respectively. Highly potent steroids were used in 51% cases whereas only 21% were given low potency steroids.ConclusionPhysicians prefer highly potent corticosteroids, according to this study. To improve prescribing, physicians should receive ongoing medical education and be made aware of the irrational use of steroids. Researchers and policymakers can use the baseline data acquired in these studies to enhance judicial prescribing practices. Keywords: Corticosteroids, dermatology, prescribing pattern.
Persistent and reversible impacts of smoking on resting-state EEG in chronic smokers and successful long-term abstainers
Authors: Lee Hyeji , Jeon Yoonji , Yoo Cheolin , Seon HeeYoung , Park Jiwon , Hwang Minho , Baek Kwangyeol , Chung Dongil 
Published: June 2022

AbstractSmoking is a severe addictive health risk behavior and notorious for the high likelihood of relapse after attempted cessation. Such an addictive pattern in smoking has been associated with neurobiological changes in the brain. However, little is known whether the neural changes associated with chronic smoking persist after a long period of successful abstinence. To address this question, we examined resting state EEG (rsEEG) in heavy smokers who have been smoking for 20 years or more, past-smokers who have been successfully abstaining for 20 years or more, and non-smokers. Compared with chronic current- or past-smokers, non-smokers showed higher relative power in theta frequency band, showcasing long-lasting effects of smoking on the brain. A few rsEEG features in alpha frequency band also revealed reversible impacts of smoking, such that only current-smokers, but not past-smokers, showed distinctively higher patterns than non-smokers in their relative power, EEG reactivity—power changes between eyes-closed and eyes-open conditions—, and coherence between channels. Furthermore, rsEEG feature differences between current- and past-smokers were accounted for by individuals’ self-reported smoking history and nicotine dependence. These data suggest long-lasting impacts of chronic smoking on the brain that are dissociable from the neural changes reversible with long-term abstinence.
A method for rapid machine learning development for data mining with Doctor-In-The-Loop
Authors: Bull Neva J , Honan Bridget , Spratt Neil J. , Quilty Simon 
Published: June 2022

AbstractClassifying free-text from historical databases into research-compatible formats is a barrier for clinicians undertaking audit and research projects. The aim of this study was to evaluate the accuracy and speed of an interactive active machine-learning model training methodology for classifying free text from clinical notes into customised researcher-defined categories. A user interface for medical experts to train and evaluate the algorithm was created. Data requiring coding in the form of two databases of free-text clinical notes. Medical experts defined categories relevant to research projects and performed ‘label-train-evaluate’ loops on the training data set. A separate dataset was used for validation, with the medical experts blinded to the label given by the algorithm.The first dataset was 32,034 death certificate records from Northern Territory Births Deaths and Marriages, which were coded into 3 categories: haemorrhagic stroke, ischaemic stroke or no stroke. The second dataset was 12,039 recorded episodes of aeromedical retrieval from two prehospital and retrieval services in Northern Territory, Australia, which were coded into 5 categories: medical, surgical, trauma, obstetric or psychiatric.For the first dataset, macro-accuracy of the algorithm was 94.7%. For the second dataset, macro-accuracy was 92.4%. The time taken to develop and train the algorithm was 124 minutes for the death certificate coding, and 144 minutes for the aeromedical retrieval coding. This machine-learning training method was able to classify free-text clinical notes quickly and accurately from two different health datasets into categories of relevance to clinicians undertaking health service research.
Risdiplam in adult non-sitter patients with 5q spinal muscular atrophy: a non-interventional, single centre, observational cohort study
Authors: Ñungo Garzón Nancy Carolina , Castellano Inmaculada Pitarch , Sevilla Teresa , Vázquez-Costa Juan F 
Published: June 2022

ABSTRACTObjectiveTo describe the safety and efficacy of risdiplam in non-sitter adult patients with 5q spinal muscular atrophy (SMA).MethodsType 2 SMA adult patients, who were not eligible for nusinersen, were offered risdiplam through the expanded access program. Patients were followed up with a battery of scales and clinical measures.ResultsSix non-sitter patients (17 – 46 years old) were treated with risdiplam. One patient reported mild adverse events (dyspepsia and headache). After one year of treatment, all patients showed clinically meaningful improvements in at least one scale and none of them showed any clinically meaningful deterioration. Two patients showed a clinically significant increase in the body mass index and other two in the revised upper limb module. Moreover, clinically meaningful improvements were found in motor (axial and upper limbs), bulbar (speech and swallowing) and respiratory (coughing) domains of functional scales, in five patients. Four subjects achieved at least one of the goals set with the goal attainment scale (GAS).DiscussionThis series suggests the safety and efficacy of risdiplam in non-sitter adult SMA patients. In these patients, functional scales and GAS are more appropriate than motor scales to detect changes, because they include axial, bulbar and respiratory domains.
Confidence-based laboratory test reduction recommendation algorithm
Authors: Huang Tongtong , Li Linda T. , Bernstam Elmer V. , Jiang Xiaoqian 
Published: June 2022

AbstractUnnecessary laboratory tests present health risks and increase healthcare costs. We propose a new deep learning model to identify unnecessary hemoglobin (Hgb) tests for patients admitted to the hospital. Machine learning models might generate less reliable results due to noisy inputs containing low-quality information. We estimate prediction confidence to measure reliability of predicted results. Using a “select and predict” design philosophy, we aim to maximize prediction performance by selectively considering samples with high prediction confidence for recommendations. We use a conservative definition of unnecessary laboratory tests, which we define as stable and below the lower normal bound (LBNR). Our model accommodates irregularly sampled observational data to make full use of variable correlations (i.e., with other laboratory test values) and temporal dependencies (i.e., previous observations) in order to select candidates for training and prediction. Using data collected from a teaching hospital in Houston, our model achieves Hgb prediction performance with a normality AUC at 95.89% and a Hgb stability AUC at 95.94%, while recommending a reduction of 9.91% of Hgb tests that were deemed unnecessary.
Neural fingerprints of Alice in Wonderland Syndrome in patients with migraine with aura
Authors: Mastria Giulio , Mancini Valentina , Viganò Alessandro , Piervincenzi Claudia , Petsas Nikolaos , Puma Marta , Giannì Costanza , Pantano Patrizia , Di Piero Vittorio 
Published: June 2022

AbstractBackgroundthe Alice in Wonderland syndrome (AIWS) is a transient neurological disturbance characterized by visual and somatosensory misperceptions most frequently associated with migraine. The heterogeneity of the etiologies and techniques applied to investigate the reported cases have so far prevented to draw strong conclusions about the origin of AIWS symptoms. Some lines of evidence suggest that AIWS and migraine might share common pathophysiological mechanisms, therefore we set out to investigate the common and distinct neurophysiological alterations associated with these conditions in a population of migraineurs.Methodswe acquired resting-state fMRI data from 12 migraine patients with AIWS, 12 patients with migraine with typical aura (MA) and 24 age-matched healthy controls (HC). We then compared the interictal thalamic seed-to-voxel and ROI-to-ROI cortico-cortical resting-state functional connectivity between the 3 groups.Resultswe found a common pattern of altered thalamic connectivity in MA and AIWS, compared to HC, with more profound and diffuse alterations observed in AIWS. The ROI-to-ROI functional connectivity analysis highlighted an increased connectivity between a lateral occipital region corresponding to area V3 and the posterior part of the superior temporal sulcus (STS) in AIWS, compared to both MA and HC. The posterior STS is a multisensory integration area, while area V3 is considered the starting point of the cortical spreading depression (CSD), the neural correlate of migraine aura. This interictal hyperconnectivity might increase the probability of the CSD to directly diffuse to the posterior STS or trigger a diaschisis phenomenon causing the AIWS symptoms during the ictal phase.Conclusionstaken together, these results suggest that AIWS in migraineurs might be a form of complex migraine aura, characterized by the involvement of associative and multisensory integration areas. The altered connectivity between early visual and multisensory associative areas provides a model for the pathophysiology of AIWS associated with other transient neurological conditions or with a structural etiology.
Mediators of the association between childhood BMI and educational attainment: analysis of a UK prospective cohort study
Authors: Bowman Kirsty , Cadman Tim , Robinson Oliver , Hughes Amanda , Heron Jon , Segal Alexa Blair , Huerta Maria Carmen , Howe Laura D 
Published: June 2022

AbstractBackgroundHigher BMI in childhood is associated with lower academic achievement.ObjectiveTo explore potential pathways linking childhood BMI with educational attainment.MethodsIn the Avon Longitudinal Study of Parents and Children prospective cohort study (N=6234), we used structural equation models to assess the association between BMI z-scores at 11.7 years and educational attainment at 16 (General Certificate of Secondary Education (GCSE) results). Depressive symptoms, externalising symptoms, bullying, pressure to lose weight, and school enjoyment were considered as potential mediators.ResultsHigher BMI z-scores were associated with lower GCSE scores (total effect: females β = -3.20 95% CI -5.15, -1.26; males β = -2.98 95% CI -5.12, -0.84). Depressive symptoms and externalising symptoms partially mediated this association in females (indirect effect: β = -0.35 95% CI -0.63, -0.06, proportion mediated = 11%; β = -0.84 95% CI -1.77, 0.10, proportion mediated = 26%, respectively). In males, there was some evidence that the association was partially mediated by bullying (indirect effect β = -0.35 95% CI -0.74, 0.03, proportion mediated = 12%).ConclusionsThe association between childhood BMI and educational attainment may be partially mediated by depressive symptoms and externalising symptoms in females, and by bullying in males.
Multiple cohort study of hospitalized SARS-CoV-2 in-host infection dynamics: parameter estimates, sensitivity and the eclipse phase profile
Authors: Korosec Chapin S. , Betti Matthew I. , Dick David W. , Ooi Hsu Kiang , Moyles Iain R. , Wahl Lindi M. , Heffernan Jane M. 
Published: June 2022

AbstractWithin-host SARS-CoV-2 modelling studies have been published throughout the COVID-19 pandemic. These studies contain highly variable numbers of individuals and capture varying timescales of pathogen dynamics; some studies capture the time of disease onset, the peak viral load and subsequent heterogeneity in clearance dynamics across individuals, while others capture late-time post-peak dynamics. In this study, we curate multiple previously published SARS-CoV-2 viral load data sets, fit these data with a consistent modelling approach, and estimate the variability of in-host parameters including the basic reproduction number, R0. We find that fitted dynamics can be highly variable across data sets, and highly variable within data sets, particularly when key components of the dynamic trajectories (e.g. peak viral load) are not represented in the data. Further, we investigated the role of the eclipse phase time distribution in fitting SARS-CoV-2 viral load data. By varying the shape parameter of an Erlang distribution, we demonstrate that models with either no eclipse phase, or with an exponentially-distributed eclipse phase, offer significantly worse fits to these data, whereas models with less dispersion around the mean eclipse time (shape parameter two or more) offered the best fits to the available data.
Contemporary social context and patterns of prenatal cannabis use in Canada following legalization: a secondary analysis of prospective cohort data
Authors: Chaput Kathleen H. , Sanghera Harleen , Sekandary Sanam , McMorris Carly , Metcalfe Amy , Wood Stephen , McNeil Deborah , McDonald Sheila 
Published: June 2022

AbstractBackgroundThe epidemiology of prenatal cannabis use in Canada following legalization remains unknown despite increasing evidence for associated health risks. Our study aimed to identify current risk factors for, and patterns of, prenatal cannabis use and second-hand cannabis exposure in Alberta.MethodsWe conducted a secondary analysis of prospective data from a 2019 study in Calgary AB, of 153 pregnant (<28 weeks gestation at enrollment), English-speaking Alberta residents. We conducted descriptive analyses of prenatal cannabis use patterns (timing, frequency, dose, modes and reasons for use) and logistic regression to identify risk factors for direct use and second-hand exposure.ResultsOdds of prenatal cannabis use were significantly higher among those who did not own their home (Odds Ratio (OR) 3.1; 95% CI:1.6-9.6), smoked tobacco prenatally (OR 3.3,95% CI:1.2-9.3) and used illicit substances in the past (OR 3.2; 95% CI:1.7-9.9), and lower for those consuming alcohol prenatally (OR 0.3, 0.12-0.89). Among the 90 (58%) participants who used cannabis prenatally, the majority used for medicinal reasons (96%), at least daily (67%), by smoking (88%), in all trimesters of pregnancy (66%). Although reported dose-per-use was commonly low, cumulative doses over pregnancy were high.InterpretationOur study finds marked differences in prenatal cannabis use risk factors, and patterns of more frequent use sustained throughout pregnancy with perceived medicinal indications than pre-legalization studies. Prenatal care providers should include cannabis explicitly in medication counselling. Further prospective studies are needed as the impacts of prenatal cannabis on maternal and infant health in Canada may currently be underestimated.
The burden of RSV-associated illness in children aged <5 years, South Africa, 2011 to 2016
Authors: Moyes Jocelyn , Tempia Stefano , Walaza Sibongile , McMorrow Meredith L. , Treurnicht Florette , Wolter Nicole , von Gottberg Anne , Kahn Kathleen , Cohen Adam L , Dawood Halima , Variava Ebrahim , Cohen Cheryl 
Published: June 2022

AbstractBackgroundVaccines and monoclonal antibodies to protect the very young infant against respiratory syncytial virus (RSV)-associated illness are effective for limited time periods. We aimed to estimate age-specific burden to guide implementation strategies and cost effectiveness analyses.MethodsWe combined case-based surveillance and ecological data to generate a national estimate of the burden of RSV-associated acute respiratory illness (ARI) and severe acute respiratory illness (SARI) in South African children aged <5 years (2011-2016), including adjustment for attributable fraction. We estimated the RSV burden by month of life in the <1-year age group, by 3-month intervals until 2 years and then 12 monthly intervals to <5 years for medically and non-medically attended illness.ResultsWe estimated a mean annual total (medically and non-medically attended) of 264,112 (95% Confidence interval (CI) 134,357-437,187) cases of RSV-associated ARI and 96,220 (95% CI 66,470-132,844) cases of RSV-associated SARI (4.7% and 1.7% of the population aged <5 years, respectively). RSV-associated ARI incidence was highest in 2 month-old infants (18,361/100,000 population, 95% CI 9,336-28,466). The highest incidence of RSV-associated SARI was in the <1-month age group 14,674/100,000 (95% CI 11,175-19,645). RSV-associated deaths were highest in the first and second month of life (8.7 deaths/100 000 (95% CI 6.3-11.2) and 8.7 deaths/100 000 (95% CI 6.4-11.4), respectively).ConclusionDue to the high burden of RSV-associated illness, specifically SARI cases in young infants, maternal vaccination and monoclonal antibody products delivered at birth could prevent significant RSV-associated disease burden.
Synthetic regulatory genomics uncovers enhancer context dependence at the Sox2 locus
Authors: Brosh Ran , Coelho Camila , Ribeiro-dos-Santos André M. , Ellis Gwen , Hogan Megan S. , Ashe Hannah J. , Somogyi Nicolette , Ordoñez Raquel , Luther Raven D. , Huang Emily , Boeke Jef D. , Maurano Matthew T. 
Published: June 2022

AbstractExpression of Sox2 in mouse embryonic stem cells (mESCs) depends on a distal regulatory cluster of DNase I hypersensitive sites (DHSs), but their individual contributions and degree of independence remain a mystery. Here, we comprehensively analyze the regulatory architecture of Sox2 at its endogenous locus using Big-IN to scarlessly integrate DNA payloads ranging up to 143 kb. We analyzed 83 payloads incorporating deletions, rearrangements, and inversions affecting single or multiple DHSs, as well as surgical alterations to transcription factor (TF) recognition sequences. Multiple mESC clones were derived for each payload, sequence-verified, and analyzed to establish the necessity and sufficiency of genomic features for Sox2 expression. We found that two LCR DHSs comprising a handful of key TF recognition sequences were each sufficient to autonomously sustain significant expression in mESCs. However, three additional LCR DHSs were entirely context-dependent, in that they showed no activity alone but could dramatically augment activity of the core DHSs. Our synthetic regulatory genomics approach demonstrates that composite regulatory elements can be reduced to a tractable set of essential sequence features, and is readily scalable to investigate regulatory architecture at other key loci genome-wide.