bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature
Authors: Rauen Katherine A. , Maeda Yoshiko , Egense Alena , Tidyman William E. 
Published: December 2020

AbstractCardio‐facio‐cutaneous syndrome (CFC) is one of the RASopathies and is caused by germline mutations that activate the Ras/mitogen‐activated protein kinase (MAPK) pathway. CFC is due to heterozygous germline mutations in protein kinases BRAF, MEK1, or MEK2 and rarely in KRAS, a small GTPase. CFC is a multiple congenital anomaly disorder in which individuals may have craniofacial dysmorphia, heart issues, skin and hair anomalies, and delayed development. Pathogenic variants for CFC syndrome are usually considered de novo because vertical transmission has only been reported with MEK2 and KRAS. The index case was a 3‐year‐old male with features consistent with the clinical diagnosis of CFC. Sequencing revealed a previously reported heterozygous likely pathogenic variant BRAF p.G464R. Upon detailed family history, the index case's pregnant mother was noted to have similar features to her son. Targeted familial testing of the BRAF pathogenic variant was performed on the mother, confirming her diagnosis. Prenatal genetic testing for the fetus was declined, but postnatal molecular testing of the index case's sister was positive for the familial BRAF p.G464R variant. Functional analysis of the variant demonstrated increased kinase activity. We report the first identified vertically transmitted functional BRAF pathogenic variant. Our findings emphasize the importance of obtaining a comprehensive evaluation of family members and that activating pathogenic variants within the canonical MAPK cascade mediated by BRAF are compatible with human reproduction.
Recent Advances and Uses of (Me4N)XCF3 (X=S, Se) in the Synthesis of Trifluoromethylthiolated and Trifluoromethylselenolated Compounds
Authors: Yang Xi‐Hui , Chang Denghu , Zhao Rong , Shi Lei 
Published: December 2020

AbstractThe introduction of trifluoromethylthio (SCF3) and trifluoromethylseleno (SeCF3) substituents into organic molecules significantly improves the electron‐withdrawing and lipophilic properties of their parent compounds. Therefore, a vast class of versatile reagents were employed to access the corresponding fluorine‐containing compounds. Among them, tetramethylammonium salts, such as (Me4N)SCF3 and (Me4N)SeCF3, have been employed as practical and efficient non‐metal reagents for developing efficient trifluoromethylthiolation and trifluoromethylselenolation in recent years. This Minireview systematically illustrates the application of (Me4N)XCF3 (X=S, Se) in the synthesis of trifluoromethylthiolated and trifluoromethylselenolated compounds, and its content is divided into two categories: transition‐metal‐catalyzed reactions, and transition‐metal‐free reactions.
Rhinologic disease and its impact on sleep: a systematic review
Authors: Fried Jacob , Yuen Erick , Li Andraia , Zhang Kathy , Nguyen Shaun A. , Gudis David A. , Rowan Nicholas R. , Schlosser Rodney J. 
Published: December 2020

BackgroundRhinologic disease can be responsible for systemic symptoms affecting mood, cognition, and sleep. It is unclear whether sleep disturbance in specific rhinologic disorders (chronic rhinosinusitis [CRS], rhinitis, and nasal septal deviation [NSD]) is an obstructive phenomenon or due to other mechanisms. In this review we examine the impact of CRS, rhinitis, and NSD on objective and subjective sleep outcome metrics and draw comparisons to normal controls and patients with known obstructive sleep apnea (OSA).MethodsA systematic review of 4 databases (PubMed, Scopus, Cochrane Library, and Web of Science) was performed. Studies reporting on objective (apnea‐hypopnea index [AHI], respiratory disturbance index [RDI], oxygen nadir) and subjective (Epworth Sleepiness Scale [EpSS], Pittsburgh Sleep Quality Index [PSQI], Fatigue Severity Scale [FSS]) sleep parameters and disease‐specific patient‐reported outcome measures (PROMs; 22‐item Sino‐Nasal Outcome Test [SNOT‐22], Rhinoconjunctivitis Quality of Life Questionnaire [RQLQ], Nasal Obstruction Symptom Evaluation [NOSE]) were included.ResultsThe database search yielded 1414 unique articles, of which 103 were included for analysis. Baseline PROMs were at the high end of normal to abnormal for all 3 conditions: EpSS: CRS (9.8 ± 4.0), rhinitis (9.7 ± 4.3), and NSD (8.9 ± 4.6); and PSQI: CRS (11.0 ± 4.5), rhinitis (6.1 ± 3.7), and NSD (8.6 ± 3.5). Objective measures demonstrated a mild to moderate OSA in the studied diseases: AHI: CRS (10.4 ± 11.5), rhinitis (8.6 ± 8.8), and NSD (13.0 ± 6.9). There were significant differences when compared with reported norms in all measured outcomes (p< 0.001).ConclusionSleep quality is impacted by rhinologic (CRS, rhinitis, NSD) disease. There is likely a mild obstructive component contributing to poor sleep, but other contributing factors may be involved.
Lewy Body Disease is a Contributor to Logopenic Progressive Aphasia Phenotype
Authors: Buciuc Marina , Whitwell Jennifer L. , Kasanuki Koji , Graff‐Radford Jonathan , Machulda Mary M. , Duffy Joseph R. , Strand Edythe A. , Lowe Val J. , Graff‐Radford Neill R. , Rush Beth K. , Franczak Malgorzata B. , Flanagan Margaret E. , Baker Matthew C. , Rademakers Rosa , Ross Owen A. , Ghetti Bernardino F. , Parisi Joseph E. , Raghunathan Aditya , Reichard R. Ross , Bigio Eileen H. , Dickson Dennis W. , Josephs Keith A. 
Published: December 2020

ObjectiveThe objective of this study was to describe clinical features, [18F]‐fluorodeoxyglucose (FDG)‐positron emission tomography (PET) metabolism and digital pathology in patients with logopenic progressive aphasia (LPA) and pathologic diagnosis of diffuse Lewy body disease (DLBD) and compare to patients with LPA with other pathologies, as well as patients with classical features of probable dementia with Lewy bodies (pDLB).MethodsThis is a clinicopathologic case‐control study of 45 patients, including 20 prospectively recruited patients with LPA among whom 6 were diagnosed with LPA‐DLBD. We analyzed clinical features and compared FDG‐PET metabolism in LPA‐DLBD to an independent group of patients with clinical pDLB and regional α‐synuclein burden on digital pathology to a second independent group of autopsied patients with DLBD pathology and antemortem pDLB (DLB‐DLBD).ResultsAll patients with LPA‐DLBD were men. Neurological, speech, and neuropsychological characteristics were similar across LPA‐DLBD, LPA‐Alzheimer's disease (LPA‐AD), and LPA‐frontotemporal lobar degeneration (LPA‐FTLD). Genetic screening of AD, DLBD, and FTLD linked genes were negative with the exception of APOE ε4 allele present in 83% of LPA‐DLBD patients. Seventy‐five percent of the patients with LPA‐DLBD showed a parietal‐dominant pattern of hy pometabolism; LPA‐FTLD – temporal‐dominant pattern, whereas LPA‐AD showed heterogeneous patterns of hypometabolism. LPA‐DLBD had more asymmetrical hypometabolism affecting frontal lobes, with relatively spared occipital lobe in the nondominantly affected hemisphere, compared to pDLB. LPA‐DLBD had minimal atrophy on gross brain examination, higher cortical Lewy body counts, and higher α‐synuclein burden in the middle frontal and inferior parietal cortices compared to DLB‐DLBD.InterpretationWhereas AD is the most frequent underlying pathology of LPA, DLBD can also be present and may contribute to the LPA phenotype possibly due to α‐synuclein‐associated functional impairment of the dominant parietal lobe. ANN NEUROL 2021;89:520–533
Modeling swine population dynamics at a finer temporal resolution
Authors: Sartore Luca , Wei Yijun , Abayomi Emilola , Riggins Seth , Corral Gavin , Bejleri Valbona , Spiegelman Clifford 
Published: December 2020

AbstractThe United States Department of Agriculture's National Agricultural Statistics Service (NASS) uses probability surveys of hog owners to estimate quarterly hog inventories in the United States at the national and state levels. NASS also receives data from external sources. A panel of commodity experts forms the Agricultural Statistics Board (ASB). The ASB establishes the NASS official estimates for each quarter by taking into account survey estimates and other relevant sources of information that are available in numerical and non‐numerical form. The aim of this article is to propose an estimation method of hog inventories by combining the NASS proprietary survey results, the hog transaction data, the past ASB panel expert analyses, biological dynamics, and the inter‐inventory relationship constraints. This approach downscales the official estimates to provide monthly estimates according to well‐defined biological growth patterns. The model developed in this study provides national estimates that may inform the quarterly reports.
Integrated representation of building service systems: topology extraction and TUBES ontology
Authors: Pauen Nicolas , Schlütter Dominik , Siwiecki Jaroslaw , Frisch Jérôme , van Treeck Christoph 
Published: December 2020

AbstractIntegrale TGA‐Beschreibung: Topologie‐Extraktion und TUBES‐Ontologie.In diesem Beitrag werden die aktuellen Ergebnisse des Forschungsprojekts Energie.Digital vorgestellt. Ziel des Projekts ist eine integrale digitale Beschreibung der technischen Gebäudeausstattung. Dies umfasst Informationen zu den physikalischen und funktionalen Verknüpfungen, den technischen Eigenschaften der Komponenten sowie zu Betriebsmodi und Ablaufdiagrammen. Diese Informationen müssen maschinenlesbar und über einen Anlagenkennzeichenschlüssel verlinkbar sein.Im Folgenden wird zum einen die Extraktion und Vereinfachung der topologischen Beschreibung der Systeme der technischen Gebäudeausrüstung aus einem IFC‐Modell, anderseits die Entwicklung einer Ontologie beschrieben. Diese basiert auf den Prinzipien des Semantic Web und integriert sich in die Umgebung innerhalb der Linked Building Data Community Group des W3C.
Computational Screening of the Physical Properties of Water‐in‐Salt Electrolytes**
Authors: Mendez‐Morales Trinidad , Li Zhujie , Salanne Mathieu 
Published: December 2020

AbstractWater‐in‐salts form a new family of electrolytes with properties distinct from the ones of conventional aqueous systems and ionic liquids. They are currently investigated for Li‐ion batteries and supercapacitors applications, but to date most of the focus was put on the system based on the LiTFSI salt. Here we study the structure and the dynamics of a series of water‐in‐salts with different anions. They have a similar parent structure but they vary systematically through their symmetric/asymmetric feature and the length of the fluorocarbonated chains. The simulations allow to determine their tendency to nanosegregate, as well as their transport properties (viscosity, ionic conductivity, diffusion coefficients) and the amount of free water, providing useful data for potential applications in energy storage devices.
A case report of confusing meningoencephalocele
Authors: Perrotta Marika , Gasparroni Giorgia , Chiavaroli Valentina , Massimi Luca , Cognigni Rita , Sabatini Laura , Topazio Teresa , Carinci Silvia , Sebastiani Marianna , Mohn Angelika , Di Valerio Susanna 
Published: December 2020

AbstractThe clinical approach plays a pivotal role in neonates with evidence of a skull mass, together with the need of monitoring unclear cases. Indeed, apparently transient alterations of the skull may be neural tube defects, which need prompt treatment.
Successful mycophenolate mofetil treatment of a patient with severe steroid‐refractory hepatitis evoked by nivolumab plus ipilimumab treatment for relapsed bladder cancer
Authors: Omori Ginji , Takada Kohichi , Murase Kazuyuki , Hayasaka Naotaka , Nakamura Hajime , Iyama Satoshi , Ohnuma Hiroyuki , Miyanishi Koji , Fukuta Fumimasa , Tanaka Toshiaki , Masumori Naoya , Kato Junji 
Published: December 2020

AbstractMycophenolate mofetil resulted in rapid improvement of steroid‐refractory immune‐related adverse event hepatitis, induced by nivolumab plus ipilimumab.
Efficient and robust state estimation: Application to a copolymerization process
Authors: Tupaz Jhovany , Asteasuain Mariano , Sánchez Mabel 
Published: December 2020

AbstractPolymerization processes are highly non‐linear systems that require strict control of their dynamic operation to be competitive. The unscented Kalman filter is a filtering strategy that has shown a rewarding performance for non‐linear state estimation. Besides, filters based on robust statistics have been proposed to deal with the presence of outliers. However, reported robust filters have employed only the Huber M‐estimator as the loss function of the estimation problem. This work presents a new state‐estimation procedure based on the unscented transformation and robust statistics concepts. When outliers are present, estimates are more accurate than when using the conventional filter. In contrast to previous research, our methodology is also efficient when there are no outliers. The performances of different loss functions for solving the estimation problem are presented. The results show that redescending M‐estimators outperform the Huber function. The behaviour of the technique is analyzed for a copolymerization process.
Inhibitors Targeting STAT5 Signaling in Myeloid Leukemias: New Tetrahydroquinoline Derivatives with Improved Antileukemic Potential
Authors: Polomski Marion , Brachet‐Botineau Marie , Juen Ludovic , Viaud‐Massuard Marie‐Claude , Gouilleux Fabrice , Prié Gildas 
Published: December 2020

AbstractSignal transducers and activators of transcription 5A and 5B (STAT5A and STAT5B) are two closely related STAT family members that are crucial downstream effectors of tyrosine kinase oncoproteins such as FLT3‐ITD in acute myeloid leukemia (AML) and BCR‐ABL in chronic myeloid leukemia (CML). We recently developed and reported the synthesis of a first molecule called 17 f that selectively inhibits STAT5 signaling in myeloid leukemia cells and overcomes their resistance to chemotherapeutic agents. To improve the antileukemic effect of 17 f, we synthesized ten analogs of this molecule and analyzed their impact on cell growth, survival, chemoresistance and STAT5 signaling. Two compounds, 7 a and 7 a’, were identified as having similar or higher antileukemic effects in various AML and CML cell lines. Both molecules were found to be more effective than 17 f at inhibiting STAT5 activity/expression and suppressing the chemoresistance of CML.
Potassium Ion Fluorescence Probes: Structures, Properties and Bioimaging
Authors: Sambath Karthik , Liu Xiangshan , Wan Zhaoxiong , Hutnik Lauren , Belfield Kevin D. , Zhang Yuanwei 
Published: December 2020

AbstractAs one of the most important minerals in the body, potassium is vital for the heart and neurons. Methods that can non‐invasively and accurately monitor changes in potassium balances would benefit disease diagnoses as well as offer insight into pathologies. Among the sensing approaches, fluorescent probes serve as a unique detection method for its simplicity, tunable detection range, and bioimaging ability. The design of new probes with highly selective K+ receptors and transduction functionality remains a challenge that is motivated by numerous sensing and detection applications. In this minireview, fluoroionophores are summarized that undergo transduction, producing fluorescence signals when interacting with, e. g., potassium ions. The properties of ionophores (afford selective interaction with potassium) and fluorophores (generate signal read‐out) are discussed. Molecular structure design and sensing mechanisms are included along with cell imaging applications. The selectivity towards K+ and the absorption/emission characteristics of the probes are of particular interest.
In the Search for Photocages Cleavable with Visible Light: An Overview of Recent Advances and Chemical Strategies
Authors: Josa‐Culleré Laia , Llebaria Amadeu 
Published: December 2020

AbstractPhotopharmacological tools enable the precise spatiotemporal control of small molecule drugs. Amongst them, caged compounds incorporate a photolabile moiety which is released under illumination, thus liberating the active molecule. Caging groups have long been known and many chemical scaffolds have already been used in different applications. However, most of the initial examples are cleaved with UV light, which suffers from low tissue permeability and cell damage. Recently, caging groups that are released under visible light have been reported, which expand their utility. In this review, we outline the chemical strategies that have been used to increase the absorption wavelengths; we compare their photophysical properties, discuss their synthetic accessibility, and exemplify some of their biological applications.
Discovery, Crystal Growth, and Scintillation Properties of Novel Tl‐Based Scintillators
Authors: Kim HongJoo , Rooh Gul , Khan Arshad , Vuong Phan Quoc , Kim Sunghwan 
Published: December 2020

AbstractPioneered by our group, thallium (Tl)‐based inorganic halide single‐crystals are potential new scintillators. Most of these scintillators exhibit excellent scintillation performance, including peak emission between 370 and 450 nm, good energy resolutions, high light yield (more than 50 000 ph MeV‐1) and fast decay‐time (less than 40 ns). In addition, these scintillators demonstrate good pulse shape discrimination capability. The grown pure crystals show strong luminescence and high light yields due to the presence of Tl ion in the host lattice. Thanks to the high Z‐number and density of the Tl, the grown scintillators have high density (ρ > 4 g cm−3) and high effective Z‐number (Zeff ≥ 60). Being hygroscopic, like other halide scintillators, these single crystals are grown by the Bridgman technique. It is expected that the discovered scintillators will perform better than most commercial scintillators used in different applications. Significant improvement in the scintillation properties are achieved with the modification of the crystal growth procedure of the grown scintillators. Preliminary results revealed that these scintillators are very promising from an application point of view, while further investigations are underway for the enhancement of the present scintillators as well as for the discovery of new compounds of this family.
Growth and Stress Analysis of Spontaneous Nucleation c‐Plane Bulk AlN Crystals by a PVT Method
Authors: Wang Guodong , Zhang Lei , Wang Yong , Shao Yongliang , Chen Chengmin , Liu Guangxia , Yao Xiaogang , Wu Yongzhong , Hao Xiaopeng 
Published: December 2020

AbstractAlN is a kind of promising semiconductor material for high‐efficiency optoelectronic devices and high‐power high‐frequency electronic devices. In this work, high‐quality c‐plane AlN single crystal with low‐stress is grown on tungsten (W) substrate using a spontaneous nucleation physical vapor transport (PVT) method. Temperature field simulation and theoretical analysis provide a theoretical guide for the AlN crystals growth experiment. The hexagonal appearance c‐plane AlN crystal is obtained with a size up to 3 mm × 3 mm. A large radial temperature gradient and suitable supersaturation lead to a low nucleation density and the growth of AlN crystal with large size, which can be used to regulate nucleation density and size of AlN crystals on W substrate. X‐ray diffraction (XRD), Raman and electron backscatter diffraction (EBSD) results confirm that the crystal is grown along the c‐axis direction with hexagonal wurtzite structure and high crystalline quality. The Raman micro‐mapping results indicate that the grown AlN crystal has small tensile stress, close to free‐stress, and the biaxial stress decreases from interface to surface along with the increasing of crystal thickness. This work will greatly contribute to the research of AlN crystal growth on W substrate.
Application of new international classification of adult‐onset diabetes in Chinese inpatients with diabetes mellitus
Authors: Wang Weihao , Pei Xiaobei , Zhang Lina , Chen Zhi , Lin Dong , Duan Xiaoye , Fan Jingwen , Pan Qi , Guo Lixin 
Published: December 2020

AbstractBackgroundTo determine whether the new international cluster‐based classification method can be applied to Chinese inpatients with diabetes mellitus (DM).MethodsAdult patients with DM hospitalized in our tertiary care centre from January 2017 to December 2018 were included in the study. K‐means cluster analysis was done in clusters based on glutamic acid decarboxylase antibodies, body mass index, glycosylated haemoglobin, homeostasis model‐assessed beta cell function, insulin resistance index, and age at diagnosis of DM. Chi‐square test was used to analyse inter‐subgroup differences in DM‐related complications and family history of DM. p < 0.05 was considered significant.ResultsA total of 1152 inpatients with DM were included in the study. Five subgroups were obtained by cluster analysis with highest proportion of population in mild obesity‐related DM subgroup (34.55%), followed by mild age‐related DM (21.55%), severe insulin deficiency DM (20.51%), severe insulin resistance DM (19.02%), and severe autoimmune DM subgroup (4.36%). The prevalence of diabetic retinopathy, diabetic peripheral vascular disease, diabetic ketosis, coronary heart disease, hypertension, and family history of DM differed significantly among the subgroups (p < 0.05 for all).ConclusionsThis cluster‐based classification could be applied to hospitalized adult patients with DM in China. It might help in strategizing for DM patients, and hence, improve management of DM in these patients.
Role of PTHrP nuclear localization and carboxyl terminus sequences in postnatal spinal cord development
Authors: Liu Yahong , Wang Qiangcheng , Wang Qun , Cui Min , Jin Yaoyao , Wang Rong , Mao Zhiyuan , Miao Dengshun , Karaplis Andrew C. , Zhang Yi Ping , Shields Lisa B. E. , Shields Christopher B. , Zhang Yongjie 
Published: December 2020

AbstractParathyroid hormone‐related peptide (PTHrP) acts under physiological conditions to regulate normal development of several tissues and organs. The role of PTHrP in spinal cord development has not been characterized. Pthrp knock in (Pthrp KI) mice were genetically modified to produce PTHrP in which there is a deficiency of the nuclear localization sequence (NLS) and C‐terminus. Using this genetically modified mouse model, we have characterized its effect on spinal cord development early postnatally. The spinal cords from Pthrp KI mice displayed a significant reduction in its length, weight, and cross‐sectional area compared to wild‐type controls. Histologically, there was a decreased development of neurons and glial cells that caused decreased cell proliferation and increased apoptosis. The neural stem cells (NSCs) cultures also revealed decreased cell proliferation and differentiation and increased apoptosis. The proposed mechanism of delayed spinal cord development in Pthrp KI mice may be due to alteration in associated pathways in regulation of cell‐division cycles and apoptosis. There was significant downregulation of Bmi‐1 and upregulation of cyclin‐dependent kinase inhibitors p27, p21, and p16 in Pthrp KI animals. We conclude that NLS and C‐terminus peptide segments of PTHrP play an important role in inhibiting cell apoptosis and stimulation of cellular proliferation necessary for normal spinal cord development.