bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Authors: Dhombres Ferdinand , Morgan Patricia , Chaudhari Bimal P. , Filges Isabel , Sparks Teresa N. , Lapunzina Pablo , Roscioli Tony , Agarwal Umber , Aggarwal Shagun , Beneteau Claire , Cacheiro Pilar , Carmody Leigh C. , Collardeau‐Frachon Sophie , Dempsey Esther A. , Dufke Andreas , Duyzend Michael Henri , el Ghosh Mirna , Giordano Jessica L. , Glad Ragnhild , Grinfelde Ieva , Iliescu Dominic G. , Ladewig Markus S. , Munoz‐Torres Monica C. , Pollazzon Marzia , Radio Francesca Clementina , Rodo Carlota , Silva Raquel Gouveia , Smedley Damian , Sundaramurthi Jagadish Chandrabose , Toro Sabrina , Valenzuela Irene , Vasilevsky Nicole A. , Wapner Ronald J. , Zemet Roni , Haendel Melissa A , Robinson Peter N. 
Published: July 2022

AbstractTechnological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype‐driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision‐making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal‐perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype‐driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care.
Long‐Duration Progressive Supranuclear Palsy: Clinical Course and Pathological Underpinnings
Authors: Lukic Milica Jecmenica , Respondek Gesine , Kurz Carolin , Compta Yaroslau , Gelpi Ellen , Ferguson Leslie W. , Rajput Alex , Troakes Claire ,   the MDS‐endorsed PSP study group, van Swieten John C. , Giese Armin , Roeber Sigrun , Herms Jochen , Arzberger Thomas , Höglinger Günter 
Published: July 2022

ObjectivesTo identify the clinical characteristics of the subgroup of benign progressive supranuclear palsy with particularly long disease duration; to define neuropathological determinants underlying variability in disease duration in progressive supranuclear palsy.MethodsClinical and pathological features were compared among 186 autopsy‐confirmed cases with progressive supranuclear palsy with ≥10 years and shorter survival times.ResultsThe 45 cases (24.2%) had a disease duration of ≥10 years. The absence of ocular motor abnormalities within the first 3 years from disease onset was the only significant independent clinical predictor of longer survival. Histopathologically, the neurodegeneration parameters in each survival group were paralleled anatomically by the distribution of neuronal cytoplasmic inclusions, whereas the tufted astrocytes displayed anatomically an opposite severity pattern. Most interestingly, we found significantly less coiled bodies in those who survive longer, in contrast to patients with less favorable course.InterpretationA considerable proportion of patients had a more ”benign” disease course with ≥10 years survival. They had a distinct pattern and evolution of core symptoms compared to patients with short survival. The inverted anatomical patterns of astrocytic tau distribution suggest distinct implications of these cell types in trans‐cellular propagation. The tempo of disease progression appeared to be determined mostly by oligodendroglial tau, where the high degree of oligodendroglial tau pathology might affect neuronal integrity and function on top of neuronal tau pathology. The relative contribution of glial tau should be further explored in cellular and animal models. ANN NEUROL 2022;92:637–649
Long‐Life Aqueous Organic Redox Flow Batteries Enabled by Amidoxime‐Functionalized Ion‐Selective Polymer Membranes
Authors: Ye Chunchun , Tan Rui , Wang Anqi , Chen Jie , Comesaña Gándara Bibiana , Breakwell Charlotte , Alvarez‐Fernandez Alberto , Fan Zhiyu , Weng Jiaqi , Bezzu C. Grazia , Guldin Stefan , Brandon Nigel P. , Kucernak Anthony R. , Jelfs Kim E. , McKeown Neil B. , Song Qilei 
Published: July 2022

AbstractRedox flow batteries (RFBs) based on aqueous organic electrolytes are a promising technology for safe and cost‐effective large‐scale electrical energy storage. Membrane separators are a key component in RFBs, allowing fast conduction of charge‐carrier ions but minimizing the cross‐over of redox‐active species. Here, we report the molecular engineering of amidoxime‐functionalized Polymers of Intrinsic Microporosity (AO‐PIMs) by tuning their polymer chain topology and pore architecture to optimize membrane ion transport functions. AO‐PIM membranes are integrated with three emerging aqueous organic flow battery chemistries, and the synergetic integration of ion‐selective membranes with molecular engineered organic molecules in neutral‐pH electrolytes leads to significantly enhanced cycling stability.
In Situ Periodic Regeneration of Catalyst during CO2 Electroreduction to C2+ Products
Authors: Xu Liang , Ma Xiaodong , Wu Limin , Tan Xingxing , Song Xinning , Zhu Qinggong , Chen Chunjun , Qian Qingli , Liu Zhimin , Sun Xiaofu , Liu Shoujie , Han Buxing 
Published: July 2022

AbstractDeveloping electrocatalytic reactions with high‐efficiency can make important contributions to carbon neutrality. However, poor long‐term stability of catalysts is a bottleneck for its practical application. Herein, an “in situ periodic regeneration of catalyst (PR‐C)” strategy is proposed to give long‐term high efficiency of CO2 electroreduction to generate C2+ products over Cu catalyst by applying a positive potential pulse for a short time periodically in the halide‐containing electrolyte. The high Faradaic efficiency (81.2 %) and current density (22.6 mA cm−2) could be maintained completely at least 36 h, while the activity and selectivity decreased continuously without using the PR‐C method. Control experiments and operando characterization demonstrated that the surface structure and oxidation state of Cu could be recovered periodically by the PR‐C method, which was beneficial for CO2 activation and C−C coupling.
Superior flame retardancy, antidripping, and thermomechanical properties of polyamide nanocomposites with graphene‐based hybrid flame retardant
Authors: Malkappa Kuruma , Bandyopadhyay Jayita , Ojijo Vincent , Ray Suprakas Sinha 
Published: July 2022

AbstractGraphene is considered one of the most prominent halogen‐free multifunctional flame retardants for polymers, and the resultant nanocomposites also display a good balance of properties. However, the biggest concern nowadays is thermal oxidative degradation, which mainly affects the flame retardant (FR) efficiency of graphene. To improve the flame retardancy and thermal oxidative degradation efficiency, graphene was functionalized with a combination of polycyclotriphosphazes and siloxanes via a sol–gel surface modification method, yielding a graphene‐based hybrid FR (PSGO) containing multiple elements (P, N, S, and Si). The PSGO‐containing PA6 composite exhibited significant improvements in the water resistance, thermal, mechanical, and FR properties, as compared with those of 3‐isocyanatopropyltriethoxysilane functionalized graphene oxide (ITS‐GO) and siloxane‐modified polycyclotriphosphazenes (m‐PZS) individually. The peak heat release rate and total heat release values of the PA6 composites with 10 wt% PSGO decreased by 45.7% and 36.9%, respectively, compared to those of pristine PA6. Moreover, it was confirmed that 10 wt% PSGO in the PA6 composite resulting in a V–0 rating in the UL‐94 tests, even after the water immersion test. These attractive properties are attributed to the resistance to thermal‐oxidative degradation of PSGO and the improved interfacial interactions with the polymer matrix. Therefore, this PSGO can be used as a multifunctional modifier to improve the water resistance, thermal, mechanical, and FR properties of polymers.
Aminoalkoxy‐substituted coumarins: Synthesis and evaluation for reactivation of inhibited human acetylcholinesterase
Authors: Elsinghorst Paul W. , Wille Timo , Barić Danijela , Mertens Matthias D. , Baumann Madlen , Küppers Jim , Gütschow Michael 
Published: July 2022

AbstractReactivation of inhibited acetylcholinesterase remains an important therapeutic strategy for the treatment of poisoning by organophosphorus compounds, such as nerve agents or pesticides. Although drugs like obidoxime or pralidoxime have been used with considerable success, there is a need for new substances capable of reactivating acetylcholinesterase with a broader scope and increased efficacy. Possible screening candidates must fulfill two fundamental requirements: They must (i) show an affinity to acetylcholinesterase well balanced between sufficient binding and competitive inhibition and (ii) facilitate the nucleophilic cleavage of the phosphorylated catalytic serine residue. We attached a variety of nonaromatic primary and secondary amines to a coumarin core through selected alkoxy side linkers attached at coumarin positions 6 or 7 to obtain a small set of possible reactivators. Evaluation of their inhibition and reactivation potential in vitro showed some activity with respect to acetylcholinesterase inhibited by cyclosarin.
Subsets of Idiopathic Inflammatory Myositis Enriched for Contemporaneous Cancer Relative to the General Population
Authors: Mecoli Christopher A. , Igusa Tak , Chen Mengkun , Wang XingYao , Albayda Jemima , Paik Julie J. , Tiniakou Eleni , Adler Brittany , Richardson Carrie , Kelly Will , Danoff Sonye , Mammen Andrew L. , Platz Elizabeth A. , Rosen Antony , Christopher‐Stine Lisa , Casciola‐Rosen Livia , Shah Ami A. 
Published: July 2022

ObjectiveThis study investigates cancer risk in idiopathic inflammatory myopathy (IIM) relative to the general population.MethodsWe conducted a single‐center, retrospective cohort study of IIM patients and malignancy. Myositis‐specific and ‐associated autoantibodies were determined by Euroimmun line blot, enzyme‐linked immunosorbent assay, and immunoprecipitation. We calculated standardized prevalence ratios (SPRs) and adjusted for calendar year, age, sex, race, and ethnicity by comparing observed cancers in IIM patients versus expected cancers in the general population using the Surveillance, Epidemiology, and End Results registry.ResultsOf 1,172 IIM patients, 203 (17%) patients with a cancer history were studied. Over a median follow‐up of 5.2 years, the observed number of IIM patients diagnosed with cancer was increased 1.43‐fold (SPR 1.43 [95% confidence interval (95% CI) 1.15–1.77]; P = 0.002). Within 3 years of IIM symptom onset, an increased SPR was observed for anti–transcription intermediary factor 1γ (anti‐TIF1γ)–positive patients for ovarian and breast cancer (ovarian SPR 18.39 [95% CI 5.01–47.08], P < 0.001; breast SPR 3.84 [95% CI 1.99–6.71], P < 0.001). As expected, anti‐TIF1γ positivity was associated with a significantly elevated SPR; however, only 55% (36 of 66) of all cancers within 3 years of dermatomyositis onset were observed in anti‐TIF1γ–positive patients. Other myositis‐specific autoantibodies, including anti–Mi‐2, anti–small ubiquitin‐like modifier activating enzyme (SAE), and anti‐nuclear matrix protein 2 (NXP‐2), accounted for 26% (17 of 66) of cancers diagnosed within 3 years of dermatomyositis onset. No cancer association, positive or negative, was observed for patients with antisynthetase, anti–melanoma differentiation–associated protein 5 (anti–MDA‐5), or anti–hydroxymethylglutaryl‐coenzyme A reductase (anti‐HMGCR) antibodies.ConclusionIn a tertiary referral center population, anti‐TIF1γ was most strongly associated with breast and ovarian cancer. Patients with antisynthetase, anti–MDA‐5, or anti‐HMGCR antibodies had the same cancer risk as the general population.image
FE‐basierte Verifikation der Rissbreitenberechnung nach DAfStb‐Heft 466
Authors: Schlicke Dirk , Krenn Christina , Mayer Michael , Betschoga Christoph 
Published: July 2022

AbstractEin wesentliches Element der Erfolgsgeschichte des Stahlbetonbaus ist die Beherrschung der Rissbildung, sodass die Rissbreiten im Gebrauchszustand auf ein tolerierbares Maß begrenzt werden können. Mehr als 60 Jahre nach den ersten gezielten Forschungsarbeiten zur Rissbreitenentwicklung in Stahlbeton mit Rippenbewehrung besteht aber noch immer kein Konsens darüber, wie die Rissbreite rechnerisch prognostiziert werden sollte. Dieser Beitrag greift die mechanische Modellvorstellung aus DAfStb‐Heft 466 nach König/Tue zur Berechnung der maximalen Rissbreite [1] auf und vergleicht die Ergebnisse mit modernen numerischen Simulationsmethoden. Besonderes Augenmerk wird hierbei auf den Einfluss der Betondeckung auf die Oberflächenrissbreite und die Bedeutung einer rissbreitenabhängigen Verbundspannung in der Berechnung gelegt. Dabei zeigt sich, dass das mechanische Modell zur maximalen Rissbreite durch die numerische Simulation sehr gut bestätigt werden kann.
17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation
Authors: Han Li Hui , Wang Liang , Wu Xiu Yun 
Published: July 2022

AbstractWe report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.
Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations
Authors: Xu Ziheng , Masters Ian Brent , Barbaro Pasquale , Miller Stephen , Kapur Nitin 
Published: July 2022

AbstractWe report a child with persistently low oxygen saturations (SpO2 90%–92%) [normal SpO2 > 98%], with delayed diagnosis due to the co‐existing congenital pulmonary airway malformation with possible arterio‐venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I‐Toulouse, making both patients the first reported cases with low oxygen saturations.
Tuberculosis arthritis of ankle: A case report
Authors: Sayad Babak , Babazadeh Arefeh , Shabani Sakineh , Hosseinzadeh Rezvan , Barary Mohammad , Ebrahimpour Soheil , Mohseni Afshar Zeinab 
Published: July 2022

AbstractTuberculosis (TB) primarily involves the respiratory tract, but any organ in the body can be affected. In recent years, extrapulmonary TB cases have significantly increased due to the prevalence of immunocompromised patients. Here, we report a case of unilateral ankle arthritis due to Mycobacterium tuberculosis infection.
Surgical repair of acute on chronic seven‐year pectoralis major rupture near the distal myotendinous junction: A case report
Authors: Guzman Alvarho J. , Rayos Del Sol Shane M. , Dela Rueda Therese , Bryant Stewart A. , Jenkins Sarah , Gardner Brandon , McGahan Patrick J. , Chen James L. 
Published: July 2022

AbstractThe surgical fixation of an acute on chronic pectoralis major rupture with inciting injury 7 years prior has never been reported in the literature. Thus, we report the first case of an acute on chronic pectoralis major rupture repair in an active male patient who underwent successful surgical intervention and review the pathophysiology and treatment of pectoralis major tears.
Bilateral recurrent laryngeal nerve paralysis diagnosed using dynamic digital radiography during the COVID‐19 pandemic
Authors: Shibuya Yukimi , Hirano Koichi , Machida Haruhiko , Miyamoto Makoto , Watabe Kozue , Mitsuma Tomoya , Nakazato Yoko , Tachibana Keisei , Tanaka Ryota , Kondo Haruhiko 
Published: July 2022

AbstractDynamic digital radiography (DDR) is a motion‐detecting technique with high temporal resolution. Flexible laryngoscopy is a common modality for the observation of the larynx; however, it generates aerosol. DDR is an easy and less risky screening test for the diagnosis of recurrent laryngeal nerve paralysis during the COVID‐19 pandemic.
Occupational exposure to coal and risk of multiple health outcomes: A case report
Authors: Hakim Zina , Kotti Nada , Ben Younes Khaoula , Dhouib Feriel , Jmal Hammami Kaouthar , Masmoudi Mohamed Larbi , Turki Hamida , Hajjaji Mounira 
Published: July 2022

AbstractOccupational cutaneous squamous‐cell carcinoma has an increased incidence, but rarely suspected. When located in an uncovered skin area, it is closely linked to polycyclic aromatic hydrocarbons exposure. However, single pulmonary anthracosis nodule is rarely described in the literature. The association of both diseases due to the same exposure remains uncommon.
Multimodality imaging in the diagnostic approach to a patient with carcinoid heart disease involving four heart valves
Authors: Habibi Khorasani Shirin , Parsaee Mozhgan , Samiei Niloufar , Hesami Mahshid , Noohi Feridoun , Hosseini Saeid , Houshmand Golnaz 
Published: July 2022

AbstractCarcinoid heart disease is a rare condition that occurs in less than half of patients with carcinoid syndrome. The disease mainly affects right‐sided heart valves; however, in 5%–10%, it can also involve left‐sided valves. This case illustrates the most complicated form of the disease involving four heart valves.
Co‐Assembly of Chiral Amines and a Four‐Armed Cyano‐Substituted Luminophore through Hydrogen Bonds for Potential Development of Smart Chiroptical Materials
Authors: Liu Yiping , Hao Aiyou , Xing Pengyao 
Published: July 2022

AbstractChirality transfer from chiral molecules to assemblies is of vital importance to the design of functional chiral materials. In this work, selective co‐assembly behaviors between chiral molecules and an achiral luminophore, potentially driven by the intermolecular salt‐bridge type hydrogen bonds are reported. Cyano‐substituted tetrakis(arylthio)benzene carboxylic acid (TA) served as the luminophore and hydrogen bond donors, which underwent co‐assembly with different chiral amines. It was found that structures of chiral amines affect the chirality transfer and the properties of co‐assemblies due to effects on hydrogen bonds and stacking pattern. Only in specific co‐assemblies, the chiroptical properties occurred at both ground state and excited states based on the emerged Cotton effects and circularly polarized luminescence (CPL) signals, revealing that the chirality was successfully transferred from molecular level to supramolecular level. In addition, accurate quantitative examination of chiral amines was realized by circular dichroism (CD) spectra. This work demonstrates the characteristic chirality response and transfer through co‐assembly, providing a potential method to develop smart chiroptical materials.
The history of botulinum toxin and its relationship to the skin
Authors: Couvillion Megan , Allen Ashley W. 
Published: July 2022

AbstractBotulinum toxin was first identified as the cause of muscle paralysis in cases of food poisoning in the 1800s. Further study of the toxin gained insight into its mechanism of action and potential for therapeutic use. “Oculinum,” now known as onabotulinumtoxinA (Botox), was approved for clinical use in 1989 for the treatment of strabismus, blepharospasm, and hemifacial spasm. The first published cosmetic use was in 1992 describing successful treatment of glabellar lines. OnabotulinumtoxinA became approved for treatment of rhytides in 2002, followed by abobotulinumtoxinA (Dysport), incobotulinumtoxinA (Xeomin), and prabotulinumtoxinA‐xvfs (Jeuveau) in 2009, 2010, and 2019, respectively. Since the initial approval of onabotulinumtoxinA 20 years ago, neuromodulator injection has become the most popular nonsurgical aesthetic procedure in the world.
Mitochondrial phylogeny within the Yellow Chat (Epthianura crocea) does not support subspecific designation of endangered Alligator Rivers population
Authors: Leppitt Robin , Rose Alea , Houston Wayne A. , Kyne Peter M. , Banks Sam C. , Woinarski John C. Z. , Garnett Stephen T. 
Published: July 2022

AbstractThe delineation of subspecies is important in the evaluation and protection of biodiversity. Subspecies delineation is hampered by inconsistently applied criteria and a lack of agreement and shifting standards on how a subspecies should be defined. The Australian endemic Yellow Chat (Epthianura crocea) is split into three subspecies (E. c. crocea, E. c. tunneyi, and E. c. macgregori) based on minor plumage differences and geographical isolation. Both E. c. tunneyi (Endangered) and E. c. macgregori (Critically Endangered) are recognized under Australian legislation as threatened and are the subject of significant conservation effort. We used mitochondrial DNA to evaluate the phylogeny of the Yellow Chat and determine how much genetic variation is present in each of the three subspecies. We found no significant difference in the cytochrome b sequences (833 base pairs) of E. c. crocea and E. c. tunneyi, but approximately 0.70% or 5.83 bp difference between E. c macgregori and both E. c. crocea and E. c. tunneyi. This analysis supports the delineation of E. c. macgregori as a valid subspecies but does not support separation of E. c. crocea from E. c. tunneyi. We also found very low levels of genetic variation within the Yellow Chat, suggesting it may be vulnerable to environmental change. Our results cast doubt upon the geographic isolation of E. c. crocea from E. c. tunneyi, but more advanced genetic sequencing and a robust comparison of plumage are needed to fully resolve taxonomy.
Absence of stress‐promoted facilitation coupled with a competition decrease in the microbiome of ephemeral saline lakes
Authors: Menéndez‐Serra Mateu , Ontiveros Vicente J. , Barberán Albert , Casamayor Emilio O. 
Published: July 2022

AbstractSalinity fluctuations constitute a well‐known high stress factor strongly shaping global biological distributions and abundances. However, there is a knowledge gap regarding how increasing saline stress affects microbial biological interactions. We applied the combination of a probabilistic method for estimating significant co‐occurrences/exclusions and a conceptual framework for filtering out associations potentially linked to environmental and/or spatial factors, in a series of connected ephemeral (hyper) saline lakes. We carried out a network analysis over the full aquatic microbiome—bacteria, eukarya, and archaea—under severe salinity fluctuations. Most of the observed co‐occurrences/exclusions were potentially explained by environmental niche and/or dispersal limitation. Co‐occurrences assigned to potential biological interactions remained stable, suggesting that the salt gradient was not promoting interspecific facilitation processes. Conversely, co‐exclusions assigned to potential biological interactions decreased along the gradient both in number and network complexity, pointing to a decrease of interspecies competition as salinity increased. Overall, higher saline stress reduced microbial co‐exclusions while co‐occurrences remained stable suggesting decreasing competition coupled with lack of stress‐gradient promoted facilitation in the microbiome of ephemeral saline lakes.