bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of brain somatic variation in epilepsy‐associated developmental lesions
Authors: Bedrosian Tracy A. , Miller Katherine E. , Grischow Olivia E. , Schieffer Kathleen M. , LaHaye Stephanie , Yoon Hyojung , Miller Anthony R. , Navarro Jason , Westfall Jesse , Leraas Kristen , Choi Samantha , Williamson Rachel , Fitch James , Kelly Benjamin J. , White Peter , Lee Kristy , McGrath Sean , Cottrell Catherine E. , Magrini Vincent , Leonard Jeffrey , Pindrik Jonathan , Shaikhouni Ammar , Boué Daniel R. , Thomas Diana L. , Pierson Christopher R. , Wilson Richard K. , Ostendorf Adam P. , Mardis Elaine R. , Koboldt Daniel C. 
Published: June 2022

AbstractObjectiveEpilepsy‐associated developmental lesions, including malformations of cortical development and low‐grade developmental tumors, represent a major cause of drug‐resistant seizures requiring surgical intervention in children. Brain‐restricted somatic mosaicism has been implicated in the genetic etiology of these lesions; however, many contributory genes remain unidentified.MethodsWe enrolled 50 children who were undergoing epilepsy surgery into a translational research study. Resected tissue was divided for clinical neuropathologic evaluation and genomic analysis. We performed exome and RNA sequencing to identify somatic variation and we confirmed our findings using high‐depth targeted DNA sequencing.ResultsWe uncovered candidate disease‐causing somatic variation affecting 28 patients (56%), as well as candidate germline variants affecting 4 patients (8%). In agreement with previous studies, we identified somatic variation affecting solute carrier family 35 member A2 (SLC35A2) and mechanistic target of rapamycin kinase (MTOR) pathway genes in patients with focal cortical dysplasia. Somatic gains of chromosome 1q were detected in 30% (3 of 10) of patients with Type I focal cortical dysplasia (FCD)s. Somatic variation in mitogen‐activated protein kinase (MAPK) pathway genes (i.e., fibroblast growth factor receptor 1 [FGFR1], FGFR2, B‐raf proto‐oncogene, serine/threonine kinase [BRAF], and KRAS proto‐oncogene, GTPase [KRAS]) was associated with low‐grade epilepsy‐associated developmental tumors. RNA sequencing enabled the detection of somatic structural variation that would have otherwise been missed, and which accounted for more than one‐half of epilepsy‐associated tumor diagnoses. Sampling across multiple anatomic regions revealed that somatic variant allele fractions vary widely within epileptogenic tissue. Finally, we identified putative disease‐causing variants in genes not yet associated with focal cortical dysplasia.SignificanceThese results further elucidate the genetic basis of structural brain abnormalities leading to focal epilepsy in children and point to new candidate disease genes.
Molecular detection and genetic characteristics of Cryptosporidium spp. in Chinese racehorses
Authors: Xu Chunyan , Wei Zilin , Tan Feng , Liu Ao , Yu Fuchang , Zhao Aiyun , Zhang Longxian , Qi Meng , Zhao Wei 
Published: June 2022

AbstractBackgroundCryptosporidium is a protozoan parasite causing diarrhoea in humans and animals. Although Cryptosporidium has been found in domestic horses (farmed or kept at pasture), there has been only one published study of Cryptosporidium infections in Chinese racehorses, which was restricted to a very small geographical area.ObjectivesTo investigate the presence of Cryptosporidium spp. in the faeces of racehorses in China and to perform molecular characterisation of the parasite.Study designCross‐sectional.MethodsA total of 621 fresh faecal samples were collected for DNA extraction from racehorses at 17 equestrian clubs from 12 provinces of China from December 2016 to May 2018. All the DNA were analysed for the presence of Cryptosporidium species/genotypes and subtypes by PCR amplification of the small subunit ribosomal RNA and 60 kDa glycoprotein genes respectively.ResultsPCR analysis revealed that 11 samples (1.8%) were positive for Cryptosporidium spp. Among them seven samples were identified as C. parvum and four were C. hominis. The C. parvum isolates were identified as subtype IIdA14G1 (n = 4) and IIdA15G1 (n = 3), while all C. hominis isolates were identified as subtype IkA18G1 (n = 4).Main limitationsA single faecal sample from each horse was used instead of multiple samples that could improve the detection rates of the parasite.ConclusionsAlthough Cryptosporidium infection rate was relatively low in the investigated racehorses, the presence of zoonotic subtypes IIdA14G and 1IIdA15G1 of C. parvum and IkA18G1 of C. hominis, suggesting that these animals are a potential source of Cryptosporidium in humans.
The portion of goods that falleth to me: Parental rights, children's rights, and medical decisions after COVID‐19
Authors: Gibson B. Isaac 
Published: June 2022

AbstractThe advent and perpetuation of the COVID‐19 pandemic has served to highlight issues in American law that have long gone unaddressed. Prominent among them are the issues involving parents, the government, and the medical decisions of children. This article examines the current state of American law involving parental rights, children's rights, and the government's role in medical decisions of children and proposes a uniform act as a solution to the discrepancy and unpredictability in this area of American law.
Characterization of primary cutaneous T‐cell lymphoma following solid organ transplantation
Authors: Shimshak Serena , Dai Christina , Comfere Nneka , Sokumbi Olayemi 
Published: June 2022

AbstractBackgroundImmunosuppression following solid organ transplantation is a known risk factor for the development of posttransplant lymphoproliferative disorders (PTLD). Primary cutaneous T‐cell lymphoma (CTCL) occurring in the posttransplant setting is rare, which has made comprehensive understanding of this disease challenging. This study aims to further characterize the spectrum of clinicopathologic features of CTCL in solid organ transplant recipients (SOTR).MethodsA retrospective chart review was performed for SOTR who were diagnosed with CTCL at a multi‐site academic medical center from January 1, 1998, to December 31, 2013. Eight patients fulfilled the inclusion criteria and were included in this study. Data collected included patient demographics, transplanted organ, the time between transplant and CTCL diagnosis, clinical presentation and rash morphology, a histological subtype of CTCL, immunosuppression regimens, and patient status. Twelve diagnostic skin biopsies for five patients were examined and reviewed by a board‐certified dermatopathologist.ResultsSix (75%) out of the eight patients were men, two (25%) were women, and the median age was 53 years. The median time from the date of transplant to the diagnosis of CTCL was 8.2 years. Transplanted organs included the liver (4), kidney (3), and heart (1). Clinical presentation varied from papulonodules, comedone‐like lesions, intense pruritis, and scaly erythematous eruptions. The most common histologic presentation was folliculotropic mycosis fungoides (FMF) (7/12). Epstein–Barr virus‐in situ hybridization (EBV‐ISH) was negative in all specimens.ConclusionsWe emphasize the rarity of CTCL among SOTR. Although rare in the general population, the FMF subtype appears to be disproportionately seen in SOTR compared with other CTCL.
Relative contribution of Imprinting, X chromosome and Litter effects to phenotypic variation in economic traits of sheep
Authors: Ghafouri‐Kesbi Farhad , Zamani Pouya , Mokhtari Morteza 
Published: June 2022

AbstractData on Zandi sheep were analysed to quantify maternal and paternal imprinting, X chromosome and litter effects' contribution to phenotypic variation in birth weight (BW), weaning weight (WW), growth rate (GR), Kleiber ratio (KR), efficiency of growth (EF) and relative growth rate (RGR). To this end, a two‐step approach was adopted. In the first step, each trait was analysed with a series of 16 animal models, which were identical for fixed and autosomal additive genetic effects but differed for combinations of maternal permanent environmental, maternal genetic, X chromosome and litter effects. For each trait, the best model was selected by the Akaike information criterion (AIC) and likelihood ratio tests (LRTs). In the second step, three additional models were fitted by adding maternal imprinting, paternal imprinting or both (models 17, 18 and 19) to the best model selected in the first step. Estimators of bias, dispersion and accuracy of breeding values estimated within 19 models with whole, and partial data were used to evaluate how well were the 19 models in estimating breeding values for the animals when their records were masked. For all traits studied, fitting the litter effect led to a better data fit. Also, it resulted in noticeable decreases in residual variance and other maternal variances. For growth traits, models containing the X‐linked effects fitted the data substantially better than corresponding models without the X‐linked effects. For BW, WW and GR, estimates of X‐linked heritability () ranged between 0.09 (GR) and 0.14 (BW). Ignoring X‐linked effects from the genetic evaluation model resulted in significant inflated autosomal additive genetic variance. For BW, WW, EF and RGR, models containing the imprinting effects provided a better fit of the data than otherwise identical models. Imprinting effects contributed significantly to the phenotypic variation of these traits in a range between 5% (RGR) and 8% (BW, WW). A sharp decline was observed in autosomal additive genetic variance following including imprinting effects in the model (27% to 40% depending on the trait). The least bias and dispersion, as well as greater accuracies for breeding values of focal animals, were for a model which included imprinting, X‐linked and litter effects. It was concluded that imprinting, X‐linked and litter effects need to be included in the genetic evaluation models for growth and efficiency‐related traits of Zandi lambs.
Sterols of Testudodinium testudo (formerly Amphidinium testudo): Production of the Δ8(14) sterol gymnodinosterol and chemotaxonomic relationship to the Kareniaceae
Authors: Leblond Jeffrey D. , Elkins Lindsey C. , Sabir Kyra , Graeff Jori E. 
Published: June 2022

AbstractTestudodinium testudo is a peridinin‐containing dinoflagellate recently renamed from Amphidinium testudo. While T. testudo has been shown via phylogenetic analysis of small subunit ribosomal RNA genes to reside in a clade separate from the genus Amphidinium, it does possess morphological features similar to Amphidinium sensu stricto. Previous studies of Amphidinium carterae and Amphidinium corpulentum have found the sterols to be enriched in Δ8(14) sterols, such as 4α‐methyl‐5α‐ergosta‐8(14),24(28)‐dien‐3β‐ol (amphisterol), uncommon to most other dinoflagellate taxa and thus considered possible biomarkers for the genus Amphidinium. Here, we provide an examination of the sterols of T. testudo and show they are dominated not by amphisterol, but rather by a different Δ8(14) sterol, (24R)‐4α‐methyl‐5α‐ergosta‐8(14),22‐dien‐3β‐ol (gymnodinosterol), previously thought to be a major sterol only within the Kareniaceae genera Karenia, Karlodinium, and Takayama. Also found to be present at low levels were 4α‐methyl‐5α‐ergosta‐8,14,22‐trien‐3β‐ol, a sterol previously observed in Karenia brevis to be an intermediate in the production of gymnodinosterol, and cholesterol, a sterol common to many other dinoflagellates. The presence of gymnodinosterol in T. testudo is the first report of this sterol as the sole major sterol in a dinoflagellate outside of the Kareniaceae. The implication of this chemotaxonomic relationship to the Kareniaceae is discussed.
Personality and peer groups in adolescence: Reciprocal associations and shared genetic and environmental influences
Authors: Clark D. Angus , Durbin C. Emily , Heitzeg Mary M. , Iacono William G. , McGue Matt , Hicks Brian M. 
Published: June 2022

AbstractObjectivePeer groups represent a critical developmental context in adolescence, and there are many well‐documented associations between personality and peer behavior at this age. However, the precise nature and direction of these associations are difficult to determine as youth both select into, and are influenced by, their peers.MethodWe thus examined the phenotypic, genetic, and environmental links between antisocial and prosocial peer characteristics and several personality traits from middle childhood to late adolescence (ages 11, 14, and 17 years) in a longitudinal twin sample (N = 3762) using teacher ratings of personality and self‐reports of peer characteristics.ResultsLess adaptive trait profiles (i.e., high negative emotionality, low conscientiousness, and low agreeableness) were associated with more antisocial and fewer prosocial peer characteristics across time. Associations between personality traits related to emotionality (negative emotionality and extraversion) and peer behavior were largely attributable to shared genetic influences, while associations between personality traits related to behavioral control (conscientiousness and agreeableness) and peer behavior were due to overlapping genetic and shared environmental influences.ConclusionsOverall, results suggest a set of environmental presses that push youth toward both behavioral undercontrol and antisocial peer affiliations, making the identification of such influences and their relative importance a critical avenue of future work.
Development of intraindividual value structures in middle childhood: A multicultural and longitudinal investigation
Authors: Daniel Ella , Döring Anna K. , Cieciuch Jan 
Published: June 2022

AbstractObjectiveWe examined changes in value interrelations during middle childhood. In line with the Personal Values Theory, we expected a value system, with individuals similarly valuing related motivations, and setting priorities between conflicting motivations. We hypothesized this system to develop dynamically during middle childhood as children deepen their understanding of their own values.MethodUsing unfolding analysis, we estimated intraindividual value structure coherence, that is, the extent to which the interrelations among a child's values are similar to the hypothesized interrelations. Cross‐Cultural Study 1 (N = 4615, 6–12‐year‐old children) included children from 12 countries. Cross‐Sequential Study 2 (N = 629, 6–10‐year‐old children at Time 1) included three annual measurements.ResultsIn Study 1, we found a curvilinear association between age and intraindividual value structure coherence: Children's values were more coherent at ages 9–10 than before or after. Study 2 confirmed this pattern of within‐individual development.ConclusionsWe propose that development in coherence with the theoretical value structure offers insight into children's understanding of values as well as changes in value priorities.
Impact of educational videos on maternal anxiety caused by children's heart surgery
Authors: Liu Shu‐Juan , Yen Wen‐Jiuan , Chang Yan‐Zin , Ku Min‐Sho 
Published: June 2022

AbstractBackgroundMothers of children undergoing surgery for congenital heart disease experience significant stress. Therefore, finding a strategy to decrease this is vital.AimsTo examine whether adding educational digital video discs to routine education can reduce maternal anxiety and depression when their children undergo heart surgery and when surgical or post‐surgical complications occur.Study DesignIn a teaching hospital, 120 mothers whose children underwent elective heart surgery were randomly and equally divided into two groups: mothers receiving routine education plus a digital video disc before surgery and mothers receiving only routine education. Mothers' anxiety and depression levels were compared before education, after education (before surgery), and on discharge day. The effect of watching the digital video disc on maternal anxiety and depression on discharge day was evaluated for the participants whose children had surgical or post‐surgical complications.ResultsCompared with only routine education, mothers' anxiety after education and on the discharge day decreased more if digital video disc was added. Depression decreased more after education, but no difference was found on the discharge day. Anxiety levels of mothers whose children had surgical or post‐surgical complications on the discharge day decreased more if they watched the digital video disc, compared with those receiving only routine education (Beck anxiety inventory score 3.4 ± 1.9 and 6.1 ± 2.4 respectively; p‐value .001).ConclusionsCompared with only routine education, adding digital video disc could decrease mothers' anxiety, and until the day of discharge. Compared with only routine education, adding digital video disc could decrease mothers' anxiety on the discharge day if their child had surgical or post‐surgical complications.Relevance to Clinical PracticeAdding educational digital video disc to routine education could decrease mothers' anxiety until the day of discharge. It could also decrease mothers' anxiety if their child had surgical or post‐surgical complications.
Cardiac resynchronization therapy outcomes with left ventricular lead concordant with latest mechanical activation: A meta‐analysis
Authors: Allen LaPointe Nancy M. , Ali‐Ahmed Fatima , Dalgaard Frederik , Kosinski Andrzej S. , Sanders Schmidler Gillian , Al‐Khatib Sana M. 
Published: June 2022

AbstractBackgroundFor cardiac resynchronization therapy (CRT), image‐guided approaches targeting left ventricular (LV) lead placement at the site of latest mechanical activation had inconsistent outcomes. We examined evidence for improved CRT outcomes when LV lead placement concordant with latest mechanical activation occurred.MethodsA review of EMBASE and PubMed was performed for randomized controlled trials or prospective observational studies from October 2008 through October 2020 comparing outcomes with concordant versus discordant LV lead placement. Meta‐analyses were performed to assess the association between concordance and death, death or heart failure (HF) hospitalization, ≥ 15% reduction in LV end systolic volume (LVESV), and changes in LVESV or ejection fraction (LVEF).ResultsFrom 5897 citations, nine publications (eight studies) with 1355 patients were selected; 975 with a concordant LV lead and 380 with a discordant lead. Mean age was 66–68 years, 82% were male, and 64% had ischemic cardiomyopathy. Meta‐analyses demonstrated a statistically significant reduction in death/HF hospitalization at 2 years (OR 0.38; 95% CI 0.16, 0.92) and LVESV at 6 months (mean difference [MD] ‐13.4%; 95% CI ‐6.7%, ‐20.0%), and an increase in LVEF (MD 4.03; 95% CI 0.77, 7.30) with the concordant LV lead. There were trends toward decreased death at 2 years (OR 0.49; 95% CI 0.19, 1.23) and ≥ 15% reduction in LVESV at 6 months (OR 3.81; 95% CI 0.24, 61.24) with concordant LV lead placement.ConclusionA concordant LV lead was associated with better CRT outcomes. Further study of feasible methods to achieve LV lead concordance is needed.
“You're Poor, so You're Not Going to Do Anything:” Socioeconomic Status and Capital Accumulation as a Means to Access Higher Education for Rural Youth☆
Authors: Grant Phillip D. , Roberts J. Kessa 
Published: June 2022

AbstractThis qualitative phenomenological study sought to understand rural students' college‐going decisions through the lens of socioeconomic status, social capital, and Perna's nested model of college choice. The sample included 18 students who were undergraduates at a selective R1 university in the Southeastern United States. Rural first‐generation students reported that they received little practical advice from adults in their family, school, or community. Rural students' choice to take adult advice seemed to be dependent on their family's education background. Family connection was the most common reason for students to choose to attend a selective university if they were not a first‐generation college student. Distance to institution was not a major factor in the participant's decision to attend the university. The students in this study were highly influenced by the policy environment of the state in which they live; a state‐wide merit‐based scholarship provided all the students, regardless of first‐generation status, a motivation to attend what they considered to be the best public school in the state, while still receiving a significant discount on their tuition.
No increased HIV risk in general population near sex work sites: A nationally representative cross‐sectional study in Zimbabwe
Authors: Kloek Mariёlle , Bulstra Caroline A. , Chabata Sungai T. , Fearon Elizabeth , Taramusi Isaac , de Vlas Sake J. , Cowan Frances M. , Hontelez Jan A. C. 
Published: June 2022

AbstractObjectivesSex work sites have been hypothesised to be at the root of the observed heterogeneity in HIV prevalence in sub‐Saharan Africa. We determined if proximity to sex work sites is associated with HIV prevalence among the general population in Zimbabwe, a country with one of the highest HIV prevalence in the world.MethodsIn this cross‐sectional study we use a unique combination of nationally representative geolocated individual‐level data from 16,121 adults (age 15–49 years) from 400 sample locations and the locations of 55 sex work sites throughout Zimbabwe; covering an estimated 95% of all female sex workers (FSWs). We calculated the shortest distance by road from each survey sample location to the nearest sex work site, for all sites and by type of sex work site, and conducted univariate and multivariate multilevel logistic regressions to determine the association between distance to sex work sites and HIV seropositivity, controlling for age, sex, male circumcision status, number of lifetime sex partners, being a FSW client or being a stable partner of an FSW client.ResultsWe found no significant association between HIV seroprevalence and proximity to the nearest sex work site among the general population in Zimbabwe, regardless of which type of site is closest (city site adjusted odds ratio [aOR] 1.010 [95% confidence interval {CI} 0.992–1.028]; economic growth point site aOR 0.982 [95% CI 0.962–1.002]; international site aOR 0.995 [95% CI 0.979–1.012]; seasonal site aOR 0.987 [95% CI 0.968–1.006] and transport site aOR 1.007 [95% CI 0.987–1.028]). Individual‐level indicators of sex work were significantly associated with HIV seropositivity: being an FSW client (aOR 1.445 [95% CI 1.188–1.745]); nine or more partners versus having one to three lifetime partners (aOR 2.072 [95% CI 1.654–2.596]).ConclusionsSex work sites do not seem to directly affect HIV prevalence among the general population in surrounding areas. Prevention and control interventions for HIV at these locations should primarily focus on sex workers and their clients, with special emphasis on including and retaining mobile sex workers and clients into services.