bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brain volumetric deficits in MAPT mutation carriers: a multisite study
Authors: Chu Stephanie A. , Flagan Taru M. , Staffaroni Adam M. , Jiskoot Lize C. , Deng Jersey , Spina Salvatore , Zhang Liwen , Sturm Virginia E. , Yokoyama Jennifer S. , Seeley William W. , Papma Janne M. , Geschwind Dan H. , Rosen Howard J. , Boeve Bradley F. , Boxer Adam L. , Heuer Hilary W. , Forsberg Leah K. , Brushaber Danielle E. , Grossman Murray , Coppola Giovanni , Dickerson Bradford C. , Bordelon Yvette M. , Faber Kelley , Feldman Howard H. , Fields Julie A. , Fong Jamie C. , Foroud Tatiana , Gavrilova Ralitza H. , Ghoshal Nupur , Graff‐Radford Neill R. , Hsiung Ging‐Yuek Robin , Huey Edward D. , Irwin David J. , Kantarci Kejal , Kaufer Daniel I. , Karydas Anna M. , Knopman David S. , Kornak John , Kramer Joel H. , Kukull Walter A. , Lapid Maria I. , Litvan Irene , Mackenzie Ian R.A. , Mendez Mario F. , Miller Bruce L. , Onyike Chiadi U. , Pantelyat Alexander Y. , Rademakers Rosa , Marisa Ramos Eliana , Roberson Erik D. , Carmela Tartaglia Maria , Tatton Nadine A. , Toga Arthur W. , Vetor Ashley , Weintraub Sandra , Wong Bonnie , Wszolek Zbigniew K. ,   the ARTFL/LEFFTDS Consortium, Van Swieten John C. , Lee Suzee E. 
Published: November 2020

AbstractObjectiveMAPT mutations typically cause behavioral variant frontotemporal dementia with or without parkinsonism. Previous studies have shown that symptomatic MAPT mutation carriers have frontotemporal atrophy, yet studies have shown mixed results as to whether presymptomatic carriers have low gray matter volumes. To elucidate whether presymptomatic carriers have lower structural brain volumes within regions atrophied during the symptomatic phase, we studied a large cohort of MAPT mutation carriers using a voxelwise approach.MethodsWe studied 22 symptomatic carriers (age 54.7 ± 9.1, 13 female) and 43 presymptomatic carriers (age 39.2 ± 10.4, 21 female). Symptomatic carriers’ clinical syndromes included: behavioral variant frontotemporal dementia (18), an amnestic dementia syndrome (2), Parkinson’s disease (1), and mild cognitive impairment (1). We performed voxel‐based morphometry on T1 images and assessed brain volumetrics by clinical subgroup, age, and mutation subtype.ResultsSymptomatic carriers showed gray matter atrophy in bilateral frontotemporal cortex, insula, and striatum, and white matter atrophy in bilateral corpus callosum and uncinate fasciculus. Approximately 20% of presymptomatic carriers had low gray matter volumes in bilateral hippocampus, amygdala, and lateral temporal cortex. Within these regions, low gray matter volumes emerged in a subset of presymptomatic carriers as early as their thirties. Low white matter volumes arose infrequently among presymptomatic carriers.InterpretationA subset of presymptomatic MAPT mutation carriers showed low volumes in mesial temporal lobe, the region ubiquitously atrophied in all symptomatic carriers. With each decade of age, an increasing percentage of presymptomatic carriers showed low mesial temporal volume, suggestive of early neurodegeneration.
A meta‐analytic review of the timing for disclosing evidence when interviewing suspects
Authors: Oleszkiewicz Simon , Watson Steven J. 
Published: November 2020

AbstractThis meta‐analytic review examines the most fundamental question for disclosing evidence during suspect interviews: What are the effective options for when to disclose the available evidence? We provide an update to Hartwig and colleagues (2014) meta‐analysis of the efficacy of the late and early disclosure methods on eliciting statement‐evidence inconsistencies from guilty and innocent suspects. We also extend these analyses to include studies comparing gradual disclosure to early and late disclosure when interviewing guilty suspects. Finally, we test whether a gradual disclosure leads to greater provision of novel investigative information when interviewing guilty suspects. Overall, we find that guilty suspects provide more statement‐evidence inconsistencies than innocent suspects, and that both a late and gradual disclosure result in more statement‐evidence inconsistencies than the early disclosure when interviewing guilty suspects. However, there are indications of small study effects that warrant considerable caution when interpreting the size of some of the identified effects.
Baselining affects the production of deceptive narratives
Authors: Tomas Frédéric , Dodier Olivier , Demarchi Samuel 
Published: November 2020

AbstractRecent research shows that the quality of a baseline (i.e., the analysis of one's behavior in normal conditions) decreases when the second narrative is expected and deceitful. However, a first step would be to investigate whether the writing of a first narrative might influence the second, independently of its expectancy. In this study, we hypothesized that second narratives would be less detailed, especially if these narratives are deceptive. Participants (N = 71) were asked to narrate two consecutive truthful and deceptive narratives. The second narrative was unexpected, and the order of the narratives was counterbalanced. Results suggest a detrimental effect of deceptiveness and order on the frequency of details. Moreover, an interaction was observed, suggesting when narratives are written after a first one, the frequency of details decreases, all the more if they were deceptive. The results of this experiment are discussed from both a theoretical and an applied perspective.
The verifiability approach to deception detection: A preregistered direct replication of the information protocol condition of Nahari, Vrij, and Fisher (2014b)
Authors: Verschuere Bruno , Schutte Manon , van Opzeeland Sharon , Kool Ilona 
Published: November 2020

SummaryNahari, Vrij, and Fischer [(2014b), Applied Cognitive Psychology, 28, 122–128] found that, when participants were forewarned that their statements would be checked for verifiable details, truth tellers gave much more verifiable details than liars. In this direct replication (n = 72), participants wrote a statement claiming they had carried out their regular campus activities, whereas liars had actually stolen an exam. Statements were coded for verifiable details. Our primary prediction was confirmed: Truth tellers provided significantly more verifiable details than liars. Of note, the replication effect size (d = 0.49) was less than half that of the original (d = 1.14), and – like in the original study – was smaller than the lie‐truth effect size for total details (verifiable and unverifiable details combined; d = 0.80). We hope this will stimulate other independent investigations of VA to tell whether or not coding for verifiability will pass Ockham's razor test.
Long‐term results of a randomized controlled trial comparing neoadjuvant Adriamycin, cisplatin, and 5‐fluorouracil vs docetaxel, cisplatin, and 5‐fluorouracil followed by surgery for esophageal cancer (OGSG1003)
Authors: Sugimura Keijiro , Yamasaki Makoto , Yasuda Takushi , Yano Masahiko , Hirao Motohiro , Fujitani Kazumasa , Kimura Yutaka , Miyata Hiroshi , Motoori Masaaki , Takeno Atsushi , Shiraishi Osamu , Makino Tomoki , Kii Takayuki , Tanaka Koji , Satoh Taro , Mori Masaki , Doki Yuichiro 
Published: November 2020

AbstractAimThe aim is to report the long‐term outcomes of preoperative cisplatin and fluorouracil plus docetaxel (DCF) vs Adriamycin (ACF) for resectable esophageal squamous cell carcinoma (ESCC). Previously, this trial showed that DCF is associated with prolonged recurrence‐free survival (RFS).MethodsPatients were randomly assigned to two cycles of ACF (35 mg/m2 of Adriamycin, 70 mg/m2 of cisplatin intravenously on day 1, and 700 mg/m2 of fluorouracil infusion for 7 days) every 4 weeks or DCF (70 mg/m2 of docetaxel, 70 mg/m2 of cisplatin intravenously on day 1, and 700 mg/m2 of fluorouracil infusion for 5 days) every 3 weeks, followed by surgery. The primary endpoint was RFS. The secondary endpoint was overall survival (OS).ResultsBetween October 2011 and October 2013, 162 patients at 10 institutions were enrolled in the study, 162 of whom were eligible and randomly assigned to the two groups. The median follow‐up for surviving patients was 69.8 months. The 5‐year RFS was significantly better in the DCF group than in the ACF group (59.9% vs 40.7%, hazard ratio [HR] 0.55; 95% confidence interval [CI], 0.35‐0.86; P = .009) and the 5‐year OS was significantly better in the DCF group than in the ACF group (63.5% vs 49.4%, HR, 0.61; 95% CI, 0.38‐0.96; P = .03). The benefit of DCF chemotherapy on survival was significantly greater in the subgroups with more advanced clinical T and N stage.ConclusionsCisplatin and fluorouracil plus docetaxel are associated with better RFS and OS than ACF in resectable ESCC patients.
Loss of alpha‐globin genes in human subjects is associated with improved nitric oxide‐mediated vascular perfusion
Authors: Denton Christopher C. , Shah Payal , Suriany Silvie , Liu Honglei , Thuptimdang Wanwara , Sunwoo John , Chalacheva Patjanaporn , Veluswamy Saranya , Kato Roberta , Wood John C. , Detterich Jon A. , Khoo Michael C. K. , Coates Thomas D. 
Published: November 2020

AbstractAlpha thalassemia is a hemoglobinopathy due to decreased production of the α‐globin protein from loss of up to four α‐globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease who co‐inherit the loss of one or two α‐globin genes have been known to have reduced risk of morbid outcomes, but the underlying mechanism is unknown. While α‐globin gene deletions affect sickle red cell deformability, the α‐globin genes and protein are also present in the endothelial wall of human arterioles and participate in nitric oxide scavenging during vasoconstriction. Decreased production of α‐globin due to α‐thalassemia trait may thereby limit nitric oxide scavenging and promote vasodilation. To evaluate this potential mechanism, we performed flow‐mediated dilation and microvascular post‐occlusive reactive hyperemia in 27 human subjects (15 missing one or two α‐globin genes and 12 healthy controls). Flow‐mediated dilation was significantly higher in subjects with α‐trait after controlling for age (P = .0357), but microvascular perfusion was not different between groups. As none of the subjects had anemia or hemolysis, the improvement in vascular function could be attributed to the difference in α‐globin gene status. This may explain the beneficial effect of α‐globin gene loss in sickle cell disease and suggests that α‐globin gene status may play a role in other vascular diseases.
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout
Authors: Magri Stefania , Nanetti Lorenzo , Mongelli Alessia , Rizzo Elena , Taroni Franco , Mariotti Caterina , Gellera Cinzia 
Published: November 2020

AbstractHuntington disease (HD) is an autosomal dominant disease characterized by motor, behavioral, and cognitive symptoms, caused by the pathological expansion of more than 35 CAG/CAA repeats in the HTT gene. We describe the phenotype of a patient compatible with HD. Several family members were reported as affected, and a paternal cousin and his daughter carried 39 and 42 CAG/CAA. HD genetic testing in proband showed homozygosity for a 14 CAG/CAA allele. Considering the phenotype and family history, HTT gene sequence was performed, revealing heterozygosity for the c.51C>G variant that changes the last nucleotide before the CAG tract, causing misannealing of forward primer (HD344) and dropout of the expanded allele. Polymerase chain reaction (PCR) analysis performed with an alternative forward primer demonstrated a 41 CAG/CAA allele. The c.51C>G variant was not detected in the affected cousin, thus suggesting a de novo occurrence. The lack of biological samples from the proband father and grandmother prevented further investigations to establish in which family member the variant occurred. These data indicate that patients presenting HD phenotype, and homozygous for a normal HTT CAG/CAA allele should be thoroughly evaluated for the presence of a genetic variant, even de novo, within the repeat region that may hamper genetic diagnosis.
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey
Authors: Abell Katherine , Hopkin Robert J. , Bender Patricia L. , Jackson Farrah , Smallwood Kelly , Sullivan Bonnie , Stottmann Rolf W. , Saal Howard M. , Weaver K. Nicole 
Published: November 2020

AbstractMandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns. Participants included attendees of the inaugural MFDM family conference in June 2019 and members of the MFDM online group. To explore MFDM variable expressivity, we offered targeted Sanger sequencing for untested parents. Forty‐seven parents participated in the survey. 59% of individuals with MFDM were male, with mean age 6.4 years (range 8 months to 49 years). Similar to the literature (n = 123), common features include microcephaly, cleft palate, choanal stenosis, tracheoesophageal fistula, heart problems, and seizures. New information includes airway intervention details, age‐based developmental outcomes, rate of vision refractive errors, and lower incidences of prematurity and IUGR. Family concerns focused on development, communication, and increased support. Targeted Sanger sequencing for families of seven individuals demonstrated de novo variants, for a total of 91.9% de novo EFTUD2 variants (n = 34/37). This study reports the largest single cohort of individuals with MFDM, expands phenotypic spectrum and inheritance patterns, improves understanding of developmental outcomes and care needs, and identifies development as the biggest concern for parents.
Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo
Authors: Mubungu Gerrye , Makay Prince , Lumaka Aimé , Mvuama Nono , Tshika Dahlie , Tady Bruno‐Paul , Biselele Thérèse , Roelants Mathieu , Tshilobo Prosper Lukusa , Devriendt Koenraad 
Published: November 2020

AbstractIn Central‐Africa, neonatal infections, asphyxia and prematurity are main reasons for admission to the neonatal intensive care unit and major determinants of newborn survival. Also, the outcome of newborns with congenital anomalies is expected to be poor, due to a lack of state‐of‐the art care. We conducted a study of 102 newborns recruited in the Neonatal Intensive Care Unit (NICU) at the University Hospitals of Kinshasa, DR Congo, to assess the impact of congenital anomalies. The presence of a major anomaly was associated with a hazard ratio of death of 13.2 (95%CI: 3.7–46.7, p < .001). In addition, the presence of three or more minor anomalies was associated with a 4.5‐fold increased risk of death (95%CI: 1.1–18.6, p = .04). We conclude that like major anomalies, the presence of three or more minor anomalies should also be given particular attention and that the evaluation of dysmorphism should be promoted in NICU.
A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valve
Authors: Ahluwalia Neha , Gelb Bruce D. 
Published: November 2020

AbstractA rare autosomal dominant syndrome with craniofacial dysmorphisms, skeletal abnormalities, short stature, and congenital heart defects has recently been described, associated with monoallelic truncating and frameshift bone morphogenetic protein 2 (BMP2) variants and deletions. We describe a patient harboring a novel de novo BMP2 nonsense variant, who exhibited craniofacial and skeletal features previously described for this trait and the novel findings of bicuspid aortic valve (BAV) and aortic root and ascending aortic aneurysm. This first instance of aortic valve involvement provides another potential cause of BAV and confirms the role of BMP2 in left ventricular outflow development.
Dimorphism in dental tissues: Sex differences in archaeological individuals for multiple tooth types
Authors: Fernée Christianne , Zakrzewski Sonia , Robson Brown Kate 
Published: November 2020

AbstractObjectivesDimorphism in the dentition has been observed in human populations worldwide. However, research has largely focused on traditional linear crown measurements. As imaging systems, such as micro‐computed tomography (micro‐CT), become increasingly more accessible, new dental measurements such as dental tissue size and proportions can be obtained. This research investigates the variation of dental tissues and proportions by sex in archaeological samples.Materials and MethodsUpper and lower first incisor to second premolar tooth rows were obtained from 30 individuals (n = 300), from 3 archaeological samples. The teeth were micro‐CT scanned and surface area and volumetric measurements were obtained from the surface meshes extracted. Dental wear was also recorded and differences between sexes determined.ResultsEnamel and crown measurements were found to be larger in females. Conversely, dentine and root measurements were larger in males.DiscussionThe findings support the potential use of dental tissues to estimate sex of individuals from archaeological samples, while also indicating that individuals aged using current dental aging methods may be underaged or overaged due to sex differences in enamel thickness.
Economic access influences degenerative spine disease outcomes at rural Late Medieval Villamagna (Lazio,IT)
Authors: Kinkopf Katherine M. , Agarwal Sabrina C. , Goodson Caroline , Beauchesne Patrick D. , Trombley Trent M. , Candilio Francesca , Rubini Mauro , Coppa Alfredo 
Published: November 2020

AbstractObjectivesDegenerative joint disease in the spine is heavily influenced by genetic, environmental, and epigenetic factors, as well as exacerbated by physical activity and injury. The objective of this study was to investigate the multivariate relationship between known predictors of degenerative joint disease in the spine, such as age and sex, with mortuary indicators of economic access such as grave inclusions, burial location, and burial type.Materials and MethodsThe presence and severity of vertebral osteophytosis (VO) and vertebral osteoarthritis (VOA) was recorded for the vertebral columns ofN= 106 adult individuals from the Late Medieval period at the rural monastery of San Pietro at Villamagna in Lazio, Italy (1300–1450 AD). Multiple skeletal indicators of degenerative joint disease, morphological sex, and age were compared with differences in mortuary treatment across four regions of the spine.ResultsThere are marked differences in severe joint disease outcome between groups with more and less economic access. Relative risk ratios suggest that males and females with less economic access have elevated risk for VO and VOA in specific spine regions, although this effect is reduced among females.DiscussionCurrent research on the consequences of economic and social inequality point to the important role of economic inequality in shaping disease outcomes. Our results suggest that biocultural effects of reduced economic access at the intraclass level may increase vulnerability to the downstream effects of risk exposure (e.g., biomechanical injure, physical activity, biochemical imbalance), and ultimately increase the risk and prevalence for severe degenerative disease outcomes in medieval Italy.
Exploring a Fatigue‐Free Layered Hybrid Perovskite Ferroelectric for Photovoltaic Non‐Volatile Memories
Authors: Yao Yunpeng , Peng Yu , Li Lina , Zhang Xinyuan , Liu Xitao , Hong Maochun , Luo Junhua 
Published: November 2020

AbstractThrough a functional unit‐transmutation strategy, a fatigue‐free layered hybrid perovskite ferroelectric (C6H5CH2NH3)2CsPb2Br7 (BCPB) has been developed, which demonstrates stable spontaneous polarization (Ps) of 6.5 μC cm−2 and high Curie temperature up to 425 K. Meanwhile, BCPB shows splendid bulk photovoltaic effect (BPVE) properties with noticeable zero‐bias photocurrent density (5 μA cm−2), and high on/off switching ratio of current (over 3×105); these merits even overmatch the most known ferroelectric semiconductor BiFeO3. The unique structure with self‐regulated net electrical charged layers gives rise to the fatigue‐free feature of Ps and BPVE (no significant fatigue after 108 polarity switching cycles), promoting the potential applications of BCPB in photovoltaic non‐volatile memories. This work offers an efficient approach for exploring fatigue‐free semiconducting ferroelectrics as well as excavates their further applications in next‐generation electronic devices.
Hierarchical Self‐assembly of Discrete Metal–Organic Cages into Supramolecular Nanoparticles for Intracellular Protein Delivery
Authors: Liu Ji , Luo Tianli , Xue Yifei , Mao Lanqun , Stang Peter J. , Wang Ming 
Published: November 2020

AbstractHierarchical self‐assembly (HAS) is a powerful approach to create supramolecular nanostructures for biomedical applications. This potency, however, is generally challenged by the difficulty of controlling the HAS of biomacromolecules and the functionality of resulted HAS nanostructures. Herein, we report a modular approach for controlling the HAS of discrete metal–organic cages (MOC) into supramolecular nanoparticles, and its potential for intracellular protein delivery and cell‐fate specification. The hierarchical coordination‐driven self‐assembly of adamantane‐functionalized M12L24 MOC (Ada‐MOC) and the host–guest interaction of Ada‐MOC with β‐cyclodextrin‐conjugated polyethylenimine (PEI‐βCD) afford supramolecular nanoparticles in a controllable manner. HAS maintains high efficiency and orthogonality in the presence of protein, enabling the encapsulation of protein into the nanoparticles for intracellular protein delivery for therapeutic application and CRISPR/Cas9 genome editing.
Biomimetic Amino Acid Functionalized Phenazine Flow Batteries with Long Lifetime at Near‐Neutral pH
Authors: Pang Shuai , Wang Xinyi , Wang Pan , Ji Yunlong 
Published: November 2020

AbstractAqueous organic redox flow batteries (AORFBs) are a promising electrochemical technology for large‐scale energy storage. We report a biomimetic, ultra‐stable AORFB utilizing an amino acid functionalized phenazine (AFP). A series of AFPs with various commercial amino acids at different substituted positions were synthesized and studied. 1,6‐AFPs display much higher stability during cycling when compared to 2,7‐ and 1,8‐AFPs. Mechanism investigations reveal that the reduced 2,7‐ and 1,8‐AFPs tend to tautomerize and lose their reversible redox activities, while 1,6‐AFPs possess ultra‐high stability both in their oxidized and reduced states. By pairing 3,3′‐(phenazine‐1,6‐diylbis(azanediyl))dipropionic acid (1,6‐DPAP) with ferrocyanide at pH 8 with 1.0 M electron concentration, this flow battery exhibits an OCV of 1.15 V and an extremely low capacity fade rate of 0.5 % per year. These results show the importance of molecular engineering of redox‐active organics for robust redox‐flow batteries.