bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic variability of human angiotensin‐converting enzyme 2 (hACE2) among various ethnic populations
Authors: Li Quan , Cao Zanxia , Rahman Proton 
Published: June 2020

AbstractBackgroundThere appears to be large regional variation for susceptibility, severity, and mortality for COVID‐19 infections. Numerous potential factors could explain the wide variability in the number of infections and death among the countries. We examined genetic differences in the human angiotensin‐converting enzyme 2 (hACE2) gene, as its receptor serves as a cellular entry for SARS‐CoV‐2. At present, there is a paucity of data regarding the differences for ACE2 polymorphisms and expression levels between ethnicities.MethodsWe compared the allele frequency of mutations between European and East Asians. Molecular dynamic simulation were performed to investigate the influences of significant mutant on protein structure. The binding free energies were calculated between S protein and hACE2. We also examined hACE2 gene expression in eight global populations from HapMap3.ResultsFour missense mutations showed significant minor allele frequency difference between Asians and Caucasians. Molecular dynamic demonstrated that two of these variants (K26R and I468V) may affect binding characteristics between S protein of the virus and hACE2 receptor. We also noted marginal differences in gene expression for some populations in HapMap3 as compared to the Chinese population.ConclusionOur studies reveal subtle changes in the genetics of hACE2 between human populations, but the magnitude of the difference was small and the significance is not clear in the absence of further in vitro and functional studies.
Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
Authors: Alade Azeez A. , Buxo‐Martinez Carmen J. , Mossey Peter A. , Gowans Lord J.J. , Eshete Mekonen A. , Adeyemo Wasiu L. , Naicker Thirona , Awotoye Waheed A. , Adeleke Chinyere , Busch Tamara , Toraño Ada M. , Bello Carolina A. , Soto Mairim , Soto Marilyn , Ledesma Ricardo , Marquez Myrellis , Cordero Jose F. , Lopez‐Del Valle Lydia M. , Salcedo Maria I. , Debs Natalio , Li Mary , Petrin Aline , Olotu Joy , Aldous Colleen , Olutayo James , Ogunlewe Modupe O. , Abate Fekir , Hailu Taye , Muhammed Ibrahim , Gravem Paul , Deribew Milliard , Gesses Mulualem , Hassan Mohaned , Pape John , Adeniyan Oluwole A. , Obiri‐Yeboah Solomon , Arthur Fareed K.N. , Oti Alexander A. , Olatosi Olubukola , Miller Sara E. , Donkor Peter , Dunnwald Martine M. , Marazita Mary L. , Adeyemo Adebowale A. , Murray Jeffrey C. , Butali Azeez 
Published: June 2020

AbstractBackgroundThe development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA‐binding (exon 3, 4) or protein‐binding domains (exon 7–9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico.MethodsWe used PubMed with the search terms; "Van der Woude syndrome," “Popliteal pterygium syndrome,” "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants.ResultsTwenty‐one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7–9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein‐binding domain (exon 7–9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*).ConclusionMutations in the protein and DNA‐binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.
High sensitivity relative humidity sensor based on SMTF structure coated with gelatin
Authors: Guo Jiachen , Bo Jia , Tang Huang , Zhao Dong , Zhou Pengwei , Wang Jian 
Published: June 2020

AbstractA high sensitivity relative humidity sensor based on single mode tapered fiber (SMTF) structure coated with gelatin is reported. The sensing element is composed of a 12‐μm‐diameter fiber taper coated with a thickness of 26‐mm‐length gelatin layer, and is operated at a wavelength of 1550 nm. The sensor is designed based on the intermodal interference effect with high sensitivity (511.33 nW/%RH) and linear response for high RH (72‐90%RH) at 25°C. In this study, we analyzed the factors affecting sensor sensitivity and proposed the method to improve the sensitivity of the sensor. The sensor responses obviously. When the RH increased to more than 70%, the optical power boosts almost 10 000 times, which has promising potential applications as an optical switch in industrial production, food processing, and environmental early warning.
Thermo‐electro‐optic energy conversion using plasmonic island embedded silicon microring circuit
Authors: Bunruangses Montree , Youplao Phichai , Punthawanunt Suphanchai , Amiri Iraj Sadegh , Pornsuwancharoen Nithiroth , Yupapin Preecha 
Published: June 2020

AbstractWe propose the use of the thermo‐electro‐optic energy conversion system for daily sunlight charger. A circuit consists of a modified silicon microring circuit embedded by a plasmonic island at the center. The island materials consist of silicon‐graphene‐gold layers. The thermal expansion of the island materials from the daily sunlight can affect the change in island material lengths and transfer to the plasmon wave path difference, which can perform the energy conversion and a charger. In manipulation, the daily sunlight statistic from South East Asia, the significant daily charging mobility of 4.34 × 10−6 cm2. (V. s)−1/Vs with the input light power of 10 mW can be obtained, which may be useful for one of the selected alternative energy sources.
Expression of chemerin and its receptors in the ovaries of prepubertal and mature gilts
Authors: Rytelewska Edyta , Kisielewska Katarzyna , Kiezun Marta , Dobrzyn Kamil , Gudelska Marlena , Rak Agnieszka , Dupont Joelle , Kaminska Barbara , Kaminski Tadeusz , Smolinska Nina 
Published: June 2020

AbstractRecent studies have demonstrated that chemerin participates in the regulation of female reproductive function at the level of the ovaries. Due to the lack of data concerning the presence of the chemerin system (chemerin and its receptors: CMKLR1, GPR1, CCRL2) in the ovaries of pigs, one of the most economically important livestock species, the aim of this study was to investigate the expression and localization of chemerin and its receptors in the ovaries of prepubertal and mature gilts. We also aimed to examine the concentrations of chemerin in the follicular fluid of prepubertal and mature animals. In the present study, we have demonstrated the expression patterns of chemerin system components in the porcine follicles of different sizes of prepubertal and mature animals, as well as in corpora lutea of mature gilts during the estrous cycle and early pregnancy. The obtained results suggest that the expression of chemerin system components is influenced by the reproductive stage, cell type, and the hormonal status of gilts (the estrous cycle/pregnancy). We have also presented the localization of the chemerin system components in various ovarian structures, and also showed changes in the concentration of chemerin in the follicular fluid of pigs. The presented findings not only confirm that chemerin is produced locally in the porcine ovary but they also demonstrate that chemerin directly affects ovarian cells, as confirmed by the presence of chemerin receptors in all ovarian structures. Therefore, chemerin appears to be an important intra‐ovarian factor that could regulate ovary function in pigs.
Sodium relaxometry using 23Na MR fingerprinting: A proof of concept
Authors: Kratzer Fabian J. , Flassbeck Sebastian , Nagel Armin M. , Behl Nicolas G.R. , Knowles Benjamin R. , Bachert Peter , Ladd Mark E. , Schmitter Sebastian 
Published: June 2020

PurposeTo evaluate the feasibility of 23Na MR fingerprinting (MRF) for simultaneous quantification of T1,
,
,
in addition to ΔB0.MethodsA framework for sodium relaxometry using MRF at 7T was developed, allowing simultaneous measurement of relaxation times and inhomogeneities in the static field. The technique distinguishes between bi‐ and monoexponential transverse relaxation and was validated in simulations with respect to the ground truth. In phantom measurements, a resolution of 2 × 2 × 12 mm3 was achieved within 1 h acquisition time, and the resulting parameter maps were compared to results from reference methods. Relaxation times in five healthy volunteers were measured with a resolution of 4 × 4 × 12 mm3.ResultsPhantom experiments revealed an agreement between the relaxation times obtained via 23Na‐MRF and the reference methods. In white matter, a longitudinal relaxation constant of T1 = 38.9 ± 4.8 ms was found, while values of
= 29.2 ± 4.9 ms and
= 4.7 ± 1.2 ms were found for the long and short component of the transverse relaxation. In cerebrospinal fluid, T1 was 67.7 ± 6.3 ms and
= 41.5 ± 3.4 ms.ConclusionThis work demonstrates the feasibility of 23Na‐MRF for relaxometry in sodium MRI in both phantom and in vivo studies. Simultaneous quantification of T1,
,
,
and ΔB0 was possible within a 1 h measurement time.
Investigating biases in the measurement of apparent alveolar septal wall thickness with hyperpolarized 129Xe MRI
Authors: Ruppert Kai , Amzajerdian Faraz , Xin Yi , Hamedani Hooman , Loza Luis , Achekzai Tahmina , Duncan Ian F. , Profka Harrilla , Qian Yiwen , Pourfathi Mehrdad , Kadlecek Stephen , Rizi Rahim R. 
Published: June 2020

PurposeTo investigate biases in the measurement of apparent alveolar septal wall thickness (SWT) with hyperpolarized xenon‐129 (HXe) as a function of acquisition parameters.MethodsThe HXe MRI scans with simultaneous gas‐phase and dissolved‐phase excitation were performed using 1‐dimensional projection scans in mechanically ventilated rabbits. The dissolved‐phase magnetization was periodically saturated, and the dissolved‐phase xenon uptake dynamics were measured at end inspiration and end expiration with temporal resolutions up to 10 ms using a Look‐Locker‐type acquisition. The apparent alveolar septal wall thickness was extracted by fitting the signal to a theoretical model, and the findings were compared with those from the more commonly use chemical shift saturation recovery MRI spectroscopy technique with several different delay time arrangements.ResultsIt was found that repeated application of RF saturation pulses in chemical shift saturation recovery acquisitions caused exchange‐dependent gas‐phase saturation that heavily biased the derived SWT value. When this bias was reduced by our proposed method, the SWT dependence on lung inflation disappeared due to an inherent insensitivity of HXe dissolved‐phase MRI to thin alveolar structures with very short

. Furthermore, perfusion‐based macroscopic gas transport processes were demonstrated to cause increasing apparent SWTs with TE (2.5 μm/ms at end expiration) and a lung periphery‐to‐center SWT gradient.ConclusionThe apparent SWT measured with HXe MRI was found to be heavily dependent on the acquisition parameters. A method is proposed that can minimize this measurement bias, add limited spatial resolution, and reduce measurement time to a degree that free‐breathing studies are feasible.
Free breathing lung T1 mapping using image registration in patients with idiopathic pulmonary fibrosis
Authors: Saunders Laura C. , Eaden James A. , Bianchi Stephen M. , Swift Andrew J. , Wild Jim M. 
Published: June 2020

PurposeTo assess the use of image registration for correcting respiratory motion in free breathing lung T1 mapping acquisition in patients with idiopathic pulmonary fibrosis (IPF).Theory and MethodsThe method presented used image registration to synthetic images during postprocessing to remove respiratory motion. Synthetic images were generated from a model of the inversion recovery signal of the acquired images that incorporated a periodic lung motion model. Ten healthy volunteers and 19 patients with IPF underwent 2D Look‐Locker T1 mapping acquisition at 1.5T during inspiratory breath‐hold and free breathing. Eight healthy volunteers and seven patients with IPF underwent T1 mapping acquisition during expiratory breath‐hold. Fourteen patients had follow‐up scanning at 6 months. Dice similarity coefficient (DSC) was used to evaluate registration efficacy.ResultsImage registration increased image DSC (P < .001) in the free breathing inversion recovery images. Lung T1 measured during a free breathing acquisition was lower in patients with IPF when compared with healthy controls (inspiration: P = .238; expiration: P = .261; free breathing: P = .021). Measured lung T1 was higher in expiration breath‐hold than inspiration breath‐hold in healthy volunteers (P < .001) but not in patients with IPF (P = .645). There were no other significant differences between lung T1 values within subject groups.ConclusionsThe registration technique significantly reduced motion in the Look‐Locker images acquired during free breathing and may improve the robustness of lung T1 mapping in patients who struggle to hold their breath. Lung T1 measured during a free breathing acquisition was significantly lower in patients with IPF when compared with healthy controls.
Dermatofibrosarcoma protuberans in children and adolescents: The European Paediatric Soft Tissue Sarcoma Study Group prospective trial (EpSSG NRSTS 2005)
Authors: Brennan Bernadette , Zanetti Ilaria , De Salvo Gian Luca , Orbach Daniel , Gallego Soledad , Francotte Nadine , Schifflers Stefan , Van Noesel Max , Kelsey Anna , Casanova Michela , Dagrada Gian Paolo , Collini Paola , Zin Angelica , Santoro Luisa , Ferrari Andrea 
Published: June 2020

AbstractBackgroundAs dermatofibrosarcoma protuberans (DFSP) are rare with no prospective series within paediatric sarcoma trials, the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG) examined the clinical data and outcomes of DFSP enrolled in a multinational study of non‐rhabdomyosarcoma soft tissue sarcomas (NRSTS).Patients and methodsForty‐six patients with confirmed DFSP were enrolled into the EpSSG NRSTS 2005 study. All had surgical resection and none had any further therapy at diagnosis.ResultsThe median age at diagnosis was 6.9 years (range 0.4‐17.5). All patients had localised disease, and the majority had small <5 cm tumours (93%), and 76% had Intergroup Rhabdomyosarcoma Study (IRS) I tumours. All patients had up front surgery, 32 requiring two operations. There were 11 patients with IRS II tumours, of which only two went on to have a local recurrence. After a median follow up of 49.0 months (range 4.2‐130.9), all patients were alive at the time of this report, with 5‐year event‐free survival of 92.6% (CI 78.8‐97.6) with a 100% overall survival.ConclusionThis report demonstrates the ability to run prospective paediatric studies in NRSTS in multiple European countries, with reasonable numbers of DFSP patients, with few events and no deaths, and hence excellent outcomes.
Opioid, gabapentinoid, and nonsteroidal anti‐inflammatory medication use and the risks of atrial fibrillation and supraventricular ectopy in the Multi‐Ethnic Study of Atherosclerosis
Authors: Harding Barbara N. , Wiggins Kerri L. , Jensen Paul N. , McKnight Barbara , Psaty Bruce M. , Heckbert Susan R. , Floyd James S. 
Published: June 2020

AbstractPurposeOpioids, gabapentinoids, and nonsteroidal anti‐inflammatory drugs (NSAIDs) may have adverse cardiovascular effects. We evaluated whether these medications were associated with incident clinically detected atrial fibrillation (AF) or monitor‐detected supraventricular ectopy (SVE), including premature atrial contractions (PACs) and supraventricular tachycardia (SVT).MethodsWe used data from the Multi‐Ethnic Study of Atherosclerosis (MESA), a cohort study that enrolled 6814 Americans without clinically detected cardiovascular disease in 2000 to 2002. At the 2016 to 2018 examination, 1557 individuals received ambulatory electrocardiographic (ECG) monitoring. Longitudinal analyses investigated time‐varying medication exposures at the first five exams (through 2011) in relation to incident clinically detected AF through 2015 using Cox proportional hazards regression models. Cross‐sectional analyses investigated medication exposures at 2016 to 2018 examination and the risk of monitor‐detected SVE using linear regression models.ResultsThe longitudinal cohort included 6652 participants. During 12.4 years of mean follow‐up, 982 participants (14.7%) experienced incident clinically detected AF. Use of opioids, gabapentinoids, and NSAIDs were not associated with incident AF. The cross‐sectional analysis included 1435 participants with ECG monitoring. Gabapentinoid use was associated with an 84% greater average frequency of PACs/hour (95% CI, 25%‐171%) and a 44% greater average number of runs of SVT/day (95% CI, 3%‐100%). No associations were found with use of opioids or NSAIDs in cross‐sectional analyses.ConclusionsIn this study, gabapentinoid use was associated with SVE. Given the rapid increase in gabapentinoid use, additional studies are needed to clarify whether these medications cause cardiovascular complications.
Asthma and COVID‐19 in children: A systematic review and call for data
Authors: Castro‐Rodriguez Jose A. , Forno Erick 
Published: June 2020

AbstractRationaleWhether asthma constitutes a risk factor for coronavirus disease‐2019 (COVID‐19) is unclear. Here, we aimed to assess whether asthma, the most common chronic disease in children, is associated with higher COVID‐19 risk or severity in pediatric populations.MethodsWe performed a systematic literature search in three stages: first, we reviewed PubMed, EMBASE, and CINAHL for systematic reviews of severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) and COVID‐19 in pediatric populations, and reviewed their primary articles; second, we searched PubMed for studies on COVID‐19 or SARS‐CoV‐2 and asthma/wheeze, and evaluated whether the resulting studies included pediatric populations; third, we repeated the second search in BioRxiv.org and MedRxiv.org to find pre‐prints that may have information on pediatric asthma.ResultsIn the first search, eight systematic reviews were found, of which five were done in pediatric populations; none of the 67 primary studies included data on pediatric asthma as a comorbidity for COVID‐19. In the second search, we found 34 results in PubMed, of which five reported asthma in adults, but none included data on children. In the third search, 25 pre‐prints in MedRxiv included data on asthma, but none on children. We found one report by the US Centers for Disease Control and Prevention stating that 40/345 (~11.5%) children with data on chronic conditions had “chronic lung diseases including asthma,” and one from a tertiary hospital in New York that reported asthma in 11/46 (~23.9%) children hospitalized for COVID‐19.ConclusionThere is scarcely any data on whether childhood asthma (or other pediatric respiratory diseases) constitute risk factors for SARS‐CoV‐2 infection or COVID‐19 severity. Studies are needed that go beyond counting the number of cases in the pediatric age range.
Protein Analysis of the TGFBIR124H Mouse Model Gives Insight into Phenotype Development of Granular Corneal Dystrophy
Authors: Lukassen Marie V. , Poulsen Ebbe T. , Donaghy Jack , Mogensen Emilie H. , Christie Kathleen A. , Roshanravan Hila , DeDioniso Larry , Nesbit M. Andrew , Moore Tara , Enghild Jan J. 
Published: June 2020

PurposeMutations in the transforming growth factor β‐induced protein (TGFBIp) are associated with TGFBI‐linked corneal dystrophies, which manifests as protein deposits in the cornea. A total of 70 different disease‐causing mutations have been reported so far including the common R124H substitution, which is associated with granular corneal dystrophy type 2 (GCD2). The disease mechanism of GCD2 is not known and the current treatments only offer temporary relief due to the reoccurrence of deposits.Experimental DesignThe corneal protein profiles of the three genotypes (wild‐type (WT), heterozygotes, and homozygotes) of a GCD2 mouse model are compared using label‐free quantitative LC‐MS/MS.ResultsThe mice do not display corneal protein deposits and the global protein expression between the three genotypes is highly similar. However, the expression of mutated TGFBIp is 41% of that of the WT protein.Conclusions and Clinical RelevanceIt is proposed that the lowered expression level of mutant TGFBIp protein relative to WT protein is the direct cause of the missing development of corneal deposits in the mouse. The overall protein profiles of the corneas are not impacted by the reduced amount of TGFBIp. Altogether, this supports a partial reduction in mutated TGFBIp as a potential treatment strategy for GCD2.
Solution structure of the zinc finger domain of human RNF144A ubiquitin ligase
Authors: Miyamoto Kazuhide , Migita Kaori , Saito Kazuki 
Published: June 2020

AbstractRNF144A is involved in protein ubiquitination and functions as an ubiquitin‐protein ligase (E3) via its RING finger domain (RNF144A RING). RNF144A is associated with degradation of heat‐shock protein family A member 2 (HSPA2), which leads to the suppression of breast cancer cell proliferation. In this study, the solution structure of RNF144A RING was determined using nuclear magnetic resonance. Moreover, using a metallochromic indicator, we spectrophotometrically determined the stoichiometry of zinc ions and elucidated that RNF144A RING binds two zinc atoms. This structural analysis provided the position and range of the active site of RNF144A RING at the atomic level, which contributes to the creation of artificial RING fingers having the specific ubiquitin‐conjugating enzyme (E2)‐binding capability.