bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome
Authors: Simsek‐Kiper Pelin Ozlem , Taskiran Ekim , Kosukcu Can , Arslan Umut Ece , Cormier‐Daire Valérie , Gonc Nazlı , Ozon Alev , Alikasifoglu Ayfer , Kandemir Nurgun , Utine Gulen Eda , Alanay Yasemin , Alikasifoglu Mehmet , Boduroglu Koray 
Published: April 2019

Abstract3M syndrome is characterized by severe pre‐ and postnatal growth retardation, typical facial features, and normal intelligence. Homozygous or compound heterozygous mutations in either CUL7, OBSL1, or CCDC8 have been identified in the etiology so far. Clinical and molecular features of 24 patients (23 patients and a fetus) from 19 unrelated families with a clinical diagnosis of 3M syndrome were evaluated and genotype–phenotype correlations were investigated with the use of DNA sequencing, chromosomal microarray, and whole exome sequencing accordingly. A genetic etiology could be established in 20 patients (n = 20/24, 83%). Eleven distinct CUL7 or OBSL1 mutations, among which eight was novel, were identified in 18 patients (n = 18/24, 75%). Ten patients had CUL7 (n = 10/18, 56%) while eight had OBSL1 (n = 8/18, 44%) mutations. Birth weight and height standard deviation scores at admission were significantly (p < 0.05) lower in patients with CUL7 mutation compared to that of patients with OBSL1 mutation. Two patients with a similar phenotype had a de novo 20p13p deletion involving BMP2. No genetic etiology could be established in four patients (n = 4/28, 17%). This study yet represents the largest cohort of 3M syndrome patients from a single center in Turkey. Microdeletions involving BMP2 may cause a phenotype similar to 3M syndrome with some distinctive features. Larger cohort of patients are required to establish genotype–phenotype correlations in 3M syndrome.
Ladungszustand von Au‐Nanopartikeln während der Methanolsynthese aus CO2/H2 an Au/ZnO‐Katalysatoren: Einsichten aus Operando IR‐Spektroskopie und In‐situ XPS‐ und XAS‐Messungen
Authors: Abdel‐Mageed Ali M. , Klyushin Alexander , Rezvani Azita , Knop‐Gericke Axel , Schlögl Robert , Behm R. Jürgen 
Published: April 2019

AbstractDie elektronischen und strukturellen Eigenschaften von Au/ZnO‐Katalysatoren und deren Zusammenhang mit der Aktivität für die Methanolbildung unter realistischen und idealisierten Reaktionsbedingungen wurden mittels kinetischer und zeitaufgelöster operando bzw. in‐situ spektroskopischer Messungen untersucht. Während der Reaktion unter realistischen Bedingungen durchgeführte operando IR‐Spektroskopie (DRIFTS) Messungen an adsorbiertem CO belegen, dass zu Beginn der Reaktion negativ geladene Au‐Nanopartikel/Au‐Adsorptionsplätze gebildet werden. In‐situ Messungen mittels Röntgenphotoelektronen‐Spektroskopie (NAP‐XPS) und Nahkanten‐Röntgenabsorptions‐Spektroskopie (XANES) zeigen, dass dies mit der Bildung von O‐Leerstellen und einer erheblichen Zunahme der Methanolbildungsrate einhergeht. Konsequenzen dieser Ergebnisse für den Reaktionsablauf werden diskutiert und mit früheren Befunden an Cu/ZnO‐ und Au/ZnO‐Katalysatoren verglichen.
NIR‐Light‐Activated Combination Therapy with a Precise Ratio of Photosensitizer and Prodrug Using a Host–Guest Strategy
Authors: Chen Hongzhong , Zeng Xiaowei , Tham Huijun Phoebe , Phua Soo Zeng Fiona , Cheng Wei , Zeng Wenfeng , Shi Haoran , Mei Lin , Zhao Yanli 
Published: April 2019

AbstractThe co‐delivery of photosensitizers with prodrugs sensitive to reactive oxygen species (ROS) for light‐triggered ROS generation and cascaded prodrug activation has drawn tremendous attention. However, the absence of a feasible method to deliver the two components at a precise ratio has impaired the application potential. Herein, we report an efficient method to produce a nanosized platform for the delivery of an optimized ratio of the two components by the means of host–guest strategy for maximizing the combination therapy efficacy of cancer treatment. The key features of this host–guest strategy for the combination therapy are that the ratio between photosensitizer and ROS‐sensitive prodrug can be easily tuned, near‐infrared (NIR) irradiation can sensitize the photosensitizer and activate the paclitaxel prodrug for its release, and the accumulation process can be tracked by NIR imaging to maximize the efficacy of photodynamic and chemotherapy.
meta‐ and para‐Phenylenediamine‐Fused Porphyrin Dimers: Synthesis and Magnetic Interactions of Their Dication Diradicals
Authors: Kato Kenichi , Osuka Atsuhiro 
Published: April 2019

Abstractmeta‐ and para‐Phenylenediamine‐fused nickel(II) porphyrin dimers were synthesized by SNAr reaction of meso,β,β‐trichloro nickel(II) porphyrin with meta‐ and para‐phenylenediamines and subsequent Pd‐catalyzed intramolecular C−H arylation. Their tetrachlorinated dication diradicals are very stable, allowing SQUID magnetometry and revealing clear open‐shell characters for both meta and para isomers with ferro‐ and anti‐ferromagnetic interactions, respectively. The nitrogen analogue of Thiele's hydrocarbon usually displays predominant closed‐shell nature but its hidden diradical characters increase either in a twisted conformation or upon insertion of an additional phenylene spacer. The observed distinct diradical nature of the para‐congener indicates that diradical properties can be enhanced also by efficient spin delocalization.
Hyperbranched‐polysiloxane‐based hyperbranched polyimide films with low dielectric permittivity and high mechanical and thermal properties
Authors: Lian Ruhe , Lei Xingfeng , Chen Yanhui , Zhang Qiuyu 
Published: April 2019

ABSTRACTA series of hyperbranched polysiloxane (HBPSi)‐based hyperbranched polyimide (HBPI) films with low dielectric permittivity and multiple branched structures are fabricated by copolymerizing 2,4,6‐triaminopyrimidine (TAP) with 4,4′‐(hexafluoroisopropylidene)diphthalic anhydride, 4,4′‐diaminodiphenyl ether, and HBPSi via the two‐step polymerization method. The dielectric permittivity of HBPSi hyperbranched polyimide films decreases with increasing TAP fraction, namely, from 3.28 for sample PI‐1 to 2.80 for PI‐4, mainly owing to the enlarged free volume created by the incorporation of multiple branched structures. Moreover, HBPSi HBPI possesses desirable solubility and good mechanical properties and thermal stability. PI‐4 not only has low dielectric permittivity (2.80, 1 MHz), excellent solubility (soluble in several common organic solvents), and remarkable thermal properties (glass‐transition temperature of 273 °C, 5% weight loss temperature of 498 °C in N2 and 486 °C in O2), but it also demonstrates admirable mechanical properties with a tensile strength of 103 MPa, elongation at break of 7.3%, and a tensile modulus of 2.16 GPa. HBPSi HBPI might have potential applications in interlayer dielectrics and other microelectronics fields. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019, 136, 47771.
SiO2‐covered graphene oxide nanohybrids for in situ preparation of UHMWPE/GO(SiO2) nanocomposites with superior mechanical and tribological properties
Authors: Haddadi Seyyed Arash , Saadatabadi Ahmad Ramazani , Kheradmand Amanj , Amini Majed , Ramezanzadeh Mohammad 
Published: April 2019

ABSTRACTThe modified Hummer technique was used in the preparation of graphene oxide (GO) nanosheets, and then SiO2 decorated GO [GO(SiO2)] nanosheets were synthesized via the sol–gel method. Then, ultrahigh‐molecular‐weight polyethylene (UHMWPE) nanocomposites loaded with 0.5, 1, 1.5, and 2 wt % of GO(SiO2) were prepared using magnesium ethoxide/GO(SiO2)‐supported Ziegler–Natta catalysts via the in situ polymerization. Morphological study of the prepared polymer powders was assessed using field‐emission scanning electron microscopy, which showed that GO(SiO2) nanohybrids have been uniformly dispersed and distributed into the UHMWPE matrix. Also, the neat UHMWPE and its nanocomposites were evaluated with different analyses, including viscosity‐average molecular weight measurement, differential scanning calorimetry, thermogravimetric analysis, tensile test, scratch hardness, and pin‐on‐disk test. The characterization of the UHMWPE nanocomposites indicated that many characterizations, including the mechanical, thermal, and tribological properties of UHMWPE, were significantly improved by incorporation of these new nanosheets in spite of the molecular weight reduction of the polymeric matrix and the improved flowability and processability of the produced nanocomposite. © 2019 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019, 136, 47796.
Use of rhodizonic acid for rapid detection of root border cell trapping of lead and reversal of trapping with DNase
Authors: Huskey David A. , Curlango‐Rivera Gilberto , Hawes Martha C. 
Published: April 2019

Premise of the StudyLead (Pb) is a contaminant whose removal from soil remains a challenge. In a previous study, border cells released from root tips were found to trap Pb, alter its chemistry, and prevent root uptake. Rhodizonic acid (RA) is a forensic tool used to reveal gunshot residue, and also to detect Pb within plant tissues. Here we report preliminary observations to assess the potential application of RA in exploring the dynamics of Pb accumulation at the root tip surface.Methods and ResultsCorn root tips were immersed in Pb solution, stained with RA, and observed microscopically. Pb trapping by border cells was evident within minutes. The role of extracellular DNA was revealed when addition of nucleases resulted in dispersal of RA‐stained Pb particles.ConclusionsRA is an efficient tool to monitor Pb–root interactions. Trapping by border cells may control Pb levels and chemistry at the root tip surface. Understanding how plants influence Pb distribution in soil may facilitate its remediation.
Morphology of the Uterotubal Junction of the Cheetah (Acinonyx jubatus)
Authors: Penfold Miles J. , Soley John T. , Hartman Marthinus J. 
Published: April 2019

ABSTRACTLess than 7,000 cheetahs survive in the wild. Captive breeding has proved notoriously difficult. The uterotubal junction acts as major barrier and regulator to the passage of sperm. This study describes the morphology of the uterotubal junction of the cheetah. Reproductive tracts were obtained from seven cheetahs that succumbed from natural causes or were euthanized for humane reasons. The uterotubal junction was isolated and examined macroscopically and microscopically. The extramural isthmus made a characteristic 90° bend before entering the mesometrial border of the uterus close to its tip. The intramural isthmus had approximately four primary folds lined by nonciliated cuboidal to low cuboidal epithelium. TheTunica musculariswas robust, merged with its uterine counterparts and consisted of an inner circular layer and outer longitudinal smooth muscle layer. The uterine ostium openedviaa muscular and glandular papilla that projected from the apex of the uterine lumen. A sharply demarcated circular zone of simple columnar epithelial cells surrounded the uterine ostium and separated the simple cuboidal to low cuboidal cells of the isthmus and uterine epithelium from each other. Branched tubulo‐alveolar glands, some with dilated lumens, were present in the papilla and sometimes extended into the adjacent endometrium. These glands might act as sperm storage areas, and could easily be confused with cystic endometrial hyperplasia. Low transverse endometrial ridges surrounded the papilla and extended caudally for a short distance before disappearing. The uterine glands were lined by a simple cuboidal epithelium. Anat Rec, 302:1855–1864, 2019. © 2019 American Association for Anatomy
The Influence of the Extracellular Matrix in Inflammation: Findings from the SPARC‐Null Mouse
Authors: Riley Hannah J. , Bradshaw Amy D. 
Published: April 2019

ABSTRACTMatricellular proteins are secreted proteins that, among other functions, can contribute to extracellular matrix (ECM) assembly including modulation of cell:ECM interactions. Recent discoveries have indicated a fundamental role for the ECM in the regulation of inflammatory responses including cell extravasation and recruitment, immune cell differentiation, polarization, activation, and retention in tissues. Secreted protein acidic and rich in cysteine (SPARC) is a matricellular collagen‐binding protein implicated in fibrillar collagen assembly in the ECM of connective tissue as well as in basal lamina organization. Functions of SPARC in modulating cell adhesion events are also reported. Studies of phenotypic responses observed in SPARC‐null mice to a variety of injury models have yielded interesting insight into the functional importance of SPARC production and aberrations in ECM structure that occur in the absence of SPARC that influence immune cell behavior and inflammatory pathways. In this review, we will discuss several examples from different tissues in which SPARC‐null mice exhibited an inflammatory response distinct from those of SPARC expressing mice and provide insight into novel ECM‐dependent mechanisms that influence these responses. Anat Rec, 2019. © 2019 Wiley Periodicals, Inc.
Does Vibrissal Innervation Patterns and Investment Predict Hydrodynamic Trail Following Behavior of Harbor Seals (Phoca vitulina)?
Authors: Jones Aubree , Marshall Christopher D. 
Published: April 2019

ABSTRACTOur understanding of vibrissal function in pinnipeds is poor due to the lack of comparative morphological, neurobiological, and psychophysical performance data. In contrast, the function of terrestrial mammalian vibrissae is better studied. Pinnipeds have the largest vibrissae of all mammals, and phocids may have the most modified vibrissae. The tactile performance for pinniped vibrissae is well known for harbor seals (Phoca vitulina). Harbor seals display at least two types of tactile behavior involving their mystacial vibrissae: a fine discriminatory capability using active touch and hydrodynamic trail following (the ability to detect and follow turbulent trails). This study investigated innervation patterns of harbor seal follicle‐sinus complexes (F‐SCs) to test the hypothesis that the whiskers used in hydrodynamic trail following possess increased innervation investment compared to other phocids. Therefore, the most lateral vibrissae from five harbor seals were histologically processed so that morphometric measurements and axon counts could be collected. Vibrissae from one harbor seal were immunolabeled with anti‐protein gene product (PGP 9.5) to document the pattern of deep vibrissal nerve innervation of the F‐SCs. Overall, harbor seals showed an innervation pattern (axons/F‐SC and axons/muzzle) similar to other phocids. The ventrolateral vibrissae, involved in hydrodynamic trail following, have greater axon density in harbor seals than harp seals, suggesting harbor seal F‐SC innervation patterns could explain their performance at trail following. The combination of microstructural, innervation investment, and behavioral data provides a foundation for functional inference regarding this tactile behavior in harbor seals and also facilitates future comparative work for other pinniped species. Anat Rec, 302:1837–1845, 2019. © 2019 American Association for Anatomy
Variations in the Size and Shape of Human Cochlear Malformation Types
Authors: Dhanasingh Anandhan 
Published: April 2019

ABSTRACTThe objective of this study is to determine the variations in size and shape of the most widely recognized cochlear malformation types using three‐dimensional (3D) visualization. Using 3D slicer freeware, the complete inner‐ear structures were segmented from 46 anonymized high‐resolution computed tomography (HRCT) image datasets. Cochlear height, internal auditory canal height, and width were measured from the axial plane. Cochlear basal turn diameter was measured from the oblique coronal plane. Number of cochlear turns was measured from the 3D images and the corresponding cochlear duct length (CDL) was estimated using the CDL equations given in Alexiades et al. [Otol Neurotol 36 (2015) 904–907]. Out of 46 preoperative HRCT image datasets of human temporal bone, cochlear anatomy types including normal anatomy (4), enlarged vestibular aqueduct syndrome (3), cochlear aplasia (2), incomplete partition Types I (8), II (Mondini's deformity) (3), and III (X‐linked) (4), cochlear hypoplasia (CH) (17), and common cavity (CC) (5) were identified. Majority of CH cases had cochlear height shorter than 4 mm whereas the CC cases measured cochlear height above 6 mm. For all the other malformation types, cochlear height was between 4 and 6 mm. In terms of “A” value, majority of CH cases showed shorter “A” value of <7.5 mm, which is in the lower end in comparison to the rest of the malformation types reported in this study. 3D‐visualization shows the size and shape variations of all the structures of inner ear and also improves the clinicians' ability to visualize cochlear anatomy and nearby structures much easier than from the 2D image slices. Anat Rec, 302:1792–1799, 2019. © 2019 The Author. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association for Anatomy
An Allosteric Metal–Organic Framework That Exhibits Multiple Pore Configurations for the Optimization of Hydrocarbon Separation
Authors: Zhou Beibei , Zeng Tengwu , Shi Zhao‐Lin , Zhang Gen , Horike Satoshi , Zhang Yue‐Biao 
Published: April 2019

AbstractThe function of allosteric enzymes can be activated or inhibited through binding of specific effector molecules. Herein, we describe how the skeletal deformation, pore configuration, and ultimately adsorptive behavior of a dynamic metal–organic framework (MOF), (Me2NH2)[In(atp)]2 (in which atp=2‐aminoterephthalate), are controlled by the allocation and orientation of its counter ions triggered by the inclusion/removal of different guest molecules. The power of such allosteric control in MOFs is highlighted through the optimization of the hydrocarbon separation performance by achieving multiple pore configurations but without altering the chemical composition.
Interrupted transport by the emergency medical service in stroke/transitory ischemic attack: A consequence of changed treatment routines in prehospital emergency care
Authors: Alsholm Linda , Axelsson Christer , Andersson Hagiwara Magnus , Niva My , Claesson Lisa , Herlitz Johan , Magnusson Carl , Rosengren Lars , Jood Katarina 
Published: April 2019

AbstractBackgroundThe discovery that not all patients who call for the emergency medical service (EMS) require transport to hospital has changed the structure of prehospital emergency care. Today, the EMS clinician at the scene already distinguishes patients with a time‐critical condition such as stroke/transitory ischemic attack (TIA) from patients without. This highlights the importance of the early identification of stroke/TIA.AimTo describe patients with a final diagnosis of stroke/TIA whose transport to hospital was interrupted either due to a lack of suspicion of the disease by the EMS crew or due to refusal by the patient or a relative/friend.MethodsData were obtained from a register in Gothenburg, covering patients hospitalised due to a final diagnosis of stroke/TIA. The inclusion criterion was that patients were assessed by the EMS but were not directly transported to hospital by the EMS.ResultsAmong all the patients who were assessed by the EMS nurse and subsequently diagnosed with stroke or TIA in 2015, the transport of 34 of 1,310 patients (2.6%) was interrupted. Twenty‐five of these patients, of whom 20 had a stroke and five had a TIA, are described in terms of initial symptoms and outcome. The majority had residual symptoms at discharge from hospital. Initial symptoms were vertigo/disturbed balance in 11 of 25 cases. Another three had symptoms perceived as a change in personality and three had a headache.ConclusionFrom this pilot study, we hypothesise that a fraction of patients with stroke/TIA who call for the EMS have their direct transport to hospital interrupted due to a lack of suspicion of the disease by the EMS nurse at the scene. These patients appear to have more vague symptoms including vertigo and disturbed balance. Instruments to identify these patients at the scene are warranted.
Association of red blood cell distribution width and outcomes in patients with mantle cell lymphoma
Authors: Miao Yi , Zhou Xiao-Hui , Guo Jing-Jing , Sun Qian , Shi Ke , Wu Jia‐Zhu , Zhu Hua‐Yuan , Wang Li , Fan Lei , Xu Wei , Li Jian‐Yong 
Published: April 2019

AbstractRed blood cell distribution width (RDW), which measures the range of variation of red blood cell volume, has been explored as a prognostic factor in multiple types of cancer. However, the role of RDW in mantle cell lymphoma (MCL), a rare type of non‐Hodgkin lymphoma with poor outcomes, remains to be determined. Therefore, we investigated the prognostic role of RDW in MCL. We found that 21 of 76 MCL patients (27.6%) had an abnormally elevated RDW (>15.7%). Abnormally elevated RDW was significantly associated with presence of B symptoms (P = 0.0020), elevated lactate dehydrogenase (LDH) (P = 0.0010), higher leukocyte count (P = 0.0345), higher simplified Mantle Cell International Prognostic Index (sMIPI) (P = 0.0194), and lower level of hemoglobin (Hb) (P < 0.0001). It was marginally associated with increased C‐reactive protein (P = 0.0862). RDW was significantly correlated with Hb level (r2 = 0.42) and LDH level (r2 = 0.19). 15.8% was determined as the best cutoff of RDW in predicting the survival outcome by the X‐tile software. Survival analysis revealed that high RDW (>15.8%) predicted shorter progression‐free survival (PFS) (hazards ratio [HR]: 3.14; P = 0.0005) and shorter overall survival (OS) (HR: 4.04; P < 0.0001). High RDW independently predicted both shorter PFS (P = 0.0493) and OS (P = 0.0118). RDW also improved the prognostic stratification based on sMIPI. In conclusion, our study identified RDW as a novel prognostic factor of clinical feasibility in the prognostication of MCL.
Impact of strut thickness and number of crown and connectors on clinical outcomes on patients treated with second‐generation drug eluting stent
Authors: Iannaccone Mario , Gatti Paolo , Barbero Umberto , Bassignana Antonia , Gallo Diego , de Benedictis Michele , Helft Gerard , Morbiducci Umberto , Doronzo Baldassare , D'Ascenzo Fabrizio 
Published: April 2019

AbstractIntroductionIn new generation drug eluting stents (DESs) era, the impact of stent geometry on freedom from recurrent events has been poorly explored. Impact of struts thickness and the number of crowns and connectors on clinical outcomes were evaluated in the present study.MethodsRandomized controlled trials comparing last generation DESs were selected. The primary endpoint was the rate of target lesion revascularization (TLR), while secondary was definite stent thrombosis (ST).ResultsFifty‐three studies with 52,006 patients were included. A struts thickness ≤81 nm was associated with a lower incidence of TLR (2.9%: 2.4‐3.4 vs. 3.6%: 3.0‐4.3) and ST (0.8%: 0.6‐1.1 vs. 1.3%: 0.9‐1.8). A mean number of connectors >2.5 was also associated with a lower incidence of TLR (3.2%: 2.8‐3.6 vs. 3.5%: 2.9‐4.2) and ST (1.0%:0.8‐1.3 vs. 1.3%: 0.9‐1.7 vs. for ST). On the other hand, stents with average number of crowns <7.5 did not perform better than stents with higher average number of crowns.ConclusionsThe findings of the study support that lower struts thickness and higher numbers of connectors have a positive clinical outcome reducing stent thrombosis and target lesion revascularizations, while the average number of stent crowns plays a secondary role.