bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Buryat Women
Authors: Gervas Polina , Molokov Aleksey , Kiselev Artem , Zarubin Aleksei , Yumov Evgeny , Pisareva Lubov , Choynzonov Evgeny Choynzonov Evgeny , Cherdyntseva Nadezda 
Published: September 2021

Abstract
Background: Germline alterations in ATM, BRCA1, BRCA2, and other genes are responsible for early-onset breast cancer. However, up to 20% of molecular tests report genetic variant of unknown significance (VUS) or novel variants that have never been previously described and their clinical significance are unknown. An existing open access databases (ClinVar, BIC, and ENIGMA and other) play an important role in the interpretation of VUS, but in Asian populations the interpretation of VUS is still difficult due to restricted data. This study aimed to reclassify the genetic variants by using the ActiveDriveDB database that annotates variants through the lens of sites of post-translational modifications.Methods: Our study included young Buryat BC patients, anthropologically belonging to the Central Asia. Genomic DNA was used to prepare libraries. NGS sequencing was performed on a NextSeq 500 System. Results: We re-examined 135 rare variants (41 VUS, 25 conflicting, 64 benign and 5 new variants). We identified 10 out of 135 (7.4%) mutations that affected the sites of post-translational modification in proteins. Of 135 rare mutations, 1 benign variant was reclassified as network-rewiring - motif loss mutation, 3 VUS and 1 new variant were reclassified as distal PTM- mutations, 2 new and 1 benign variant were classified as proximal PTM- mutations and 1 benign and 1 conflicting variant were classified as direct PTM- mutations.Conclusions: For the first time, 7.4% (10 out of 135) of mutations that affected the sites of post-translational modification in proteins were identified among Buryat women with early-onset breast cancer.
Mathematical Modeling of Crosslinked Polyacrylic Based Hydrogels: Physical Properties and Drug Delivery
Authors: Bisotti Filippo , Pizzetti Fabio , Storti Giuseppe , Rossi Filippo 
Published: September 2021

Abstract
Recently, hydrogels have gained significant importance in different applications, such as tissue engineering and drug delivery. They are 3D-structures of hydrophilic polymers held together through physical or chemical cross-linking. Important is their ability to swell in presence of solvents, forming elastic gels able to mantain their original shape. Furthermore, this scaffolds slowly degrade in the physiological environment, leading the growing tissue to replace the former filled site. In this work, hydrogels have been synthetized using branched polyacrilic acid (Carbomer) cross-linked with an aliphatic polyetherdiamine (elastamine). In particular, we focused on the description of their equilibrium conditions in swollen state and the dynamic simulation of the swelling process. These hydrogels exhibited a peculiar swelling behaviour characterized by an overshoot of the volume increase before reaching the equilibrium. Notably, such behavior was found at different pH values. In this manuscript, the swelling behavior was studied by mathematical modelling. Moreover, the ability of these devices to release drugs was also examined through a literature model to understand the different operating transport mechanisms.
Usefulness of Adapted Exotic Maize Lines Developed By Doubled Haploid and Single Seed Descent Methods
Authors: Santos Iara Goncalves , Verzegnazzi Anderson L. , Edwards Jode , Frei Ursula K. , Boerman Nicholas , Zuffo Leandro Tonello , Pires Luiz P. M. , Fuente Gerald N. de La , Lübberstedt Thomas 
Published: September 2021

Abstract
Adapted exotic maize (Zea mays L.) germplasm, such as BS39, provides a unique opportunity for broadening the genetic base of U.S. Corn Belt germplasm. In vivo doubled haploid (DH) technology has been used to efficiently exploit exotic germplasm. It can help to purge deleterious recessive alleles. The objectives of this study were to determine the usefulness of BS39-derived inbred lines using both SSD and DH methods, to determine the impact of spontaneous as compared to artificial haploid genome doubling on genetic variance among BS39-derived DH lines, and to identify SNP markers associated with agronomic traits among BS39 inbreds monitored at testcross level. We developed two sets of inbred lines directly from BS39 by DH and SSD methods, named BS39_DH and BS39_SSD. Additionally, two sets were derived from a cross between BS39 and A427 (SHGD donor) by DH and SSD methods, named BS39×A427_DH and BS39×A427_SSD, respectively. Grain yield, moisture, plant height, ear height, stalk lodging, and root lodging were measured to estimate genetic parameters. For genome-wide association (GWAS) analysis, inbred lines were genotyped using Genotype-by-Sequencing (GBS) and Diversity Array Technology Sequencing (DArTSeq). Some BS39-derived inbred lines performed better than elite germplasm inbreds and all sets showed significant genetic variance. The presence of spontaneous haploid genome doubling genes did not affect performance of inbred lines. Five SNPs were significant and three of them located within genes related to plant development or abiotic stresses. These results demonstrate the potential of BS39 to add novel alleles to temperate elite germplasm.
Adaptation and Validation of the Spanish Version of the Everyday Cognition Battery Scale for Assessing Everyday Cognition in Older Adults
Authors: Jimenez Raquel , Fernandez Eduardo Jose , Sanchez Celia , Cruz Juan Jesus , Rihuete Maria Isabel 
Published: September 2021

Abstract
Introduction: Ageing entails a series of neuroanatomical and neurophysiological changes in some cognitive processes that directly affect the daily life and autonomy of a person. We believe it is necessary to have tools that assess the cognitive functions that are essential for carrying out daily activities in an independent manner. The aim of this study was to translate the Everyday Cognition Battery (ECB) scale into Spanish, adapt it to the sociocultural context of Spain, and validate it by testing the psychometric properties, i.e., the reliability and validity of the translated version.Methods: The translation and adaptation of the ECB into Spanish was carried out following the method recommended by Beaton et al., the process concluding with a pilot test to ensure that subjects were able to understand the scale correctly. Between March and October 2019, the study population voluntarily completed the translated version of each of the four subscales that make up the battery of tests. The translated version was validated by analysing its psychometric properties, using reliability or internal consistency tests assessed with Cronbach's alpha coefficient and validity tests analysed using correlation tables and Spearman's correlation coefficient. The scale considered to represent the gold standard in the assessment of cognition was the Rapid Assessment of Cognitive Functions (RACF), and to assess Instrumental Activities of Daily Living (IADL) this was the Lawton and Brody Index. Results: The total study population included 226 subjects, of which 52 participants were excluded, resulting in a study sample size of 174 older adults. The recognition, inductive reasoning and computation span tests showed good reliability (Cronbach's alpha coefficient of >0.827, >0.836, and >0.823, respectively), while the knowledge test showed questionable reliability with a Cronbach's alpha coefficient of >0.615. The validity analysis demonstrated that all the combinations of correlations of the different scales were significantly and positively related to one another. Conclusions: The Spanish version of the ECB tool is socially and culturally equivalent to the original version, and both its validity and reliability for assessing everyday cognition in older adults have been demonstrated.
Viral biogeography of gastrointestinal tract and parenchymal organs in two representative species of mammals
Authors: Shkoporov Andrey , Stockdale Stephen , Lavelle Aonghus , Kondova Ivanela , Hueston Cara , Upadrasta Aditya , Khokhlova Ekaterina , Kamp Imme van der , Ouwerling Boudewijn , Draper Lorraine , Langermans Jan , Ross R Paul , Hill Colin 
Published: September 2021

Abstract
In this study we report the first comprehensive metagenomic analysis of the prokaryotic and eukaryotic virome occupying luminal and mucosa-associated habitats along the entire length of the gastrointestinal tract (GIT) in two animal species, the domestic pig and rhesus macaque.
The highest loads and diversity of bacteriophages are found in the lumen of the large intestine in both mammals. Mucosal samples contain much lower viral loads but a higher proportion of eukaryotic viruses. Parenchymal organs contained significant amounts of bacteriophages of gut origin, in addition to some eukaryotic viruses.
GIT virome composition is both region- and species-specific with a strong separation between upper and lower gut. Nonetheless, certain viral and phage species are found ubiquitously from the oral cavity to the distal colon. Correlations between individual phages and their potential microbial hosts in the GIT are overwhelmingly positive, which confirms earlier concepts of the temperate-like life cycles of the majority of gut phages and a prevalence of the “piggyback-the-winner” ecological dynamics.
When Does Early Palliative Care Influence Aggressive Care At The End of Life?
Authors: Davis Mellar P , vanenkevort Erin , Elder Alexander , Young Amanda , Ordonez Irina Correa , Wojtowicz Mark , Ellison Halle , Fernandez Carlos , Mehta Zankhana , Behm Bertrand , Digwood Glen , Panikkar Rajiv 
Published: September 2021

Abstract
Background
Early palliative care improves patient quality of life and influences cancer care. The time frame of early has not been established. Eight quality measures reflect aggressive care at the end of life. We retrospectively reviewed patients who died with cancer between January 1, 2018 through December 31, 2019, and compared the timing of palliative care consultation, advance directives (AD), and home palliative care with aggressive care at the end of life (ACEOL).
Methods
Patients without ACEOL indicators were compared to patients with one or more than one indicator of ACEOL. The proportion of patients who received palliative care, completed AD, and the timing of palliative care and AD (less than 30 days, 60–90 days, and greater than 90 days prior to death) was compared for patients who had ACEOL versus those who did not. Chi-square analysis was used for categorical data, one-way ANOVA for continuous variables, and odds ratio (OR) with confidence intervals (CI) was reported as a measure of effect size. A p-value </= 0.05 was considered significant.
Results
1727 patients died, 46% were female, and the mean age was 69 (SD 11.91). 71% had a palliative care consult, 26% completed AD, 888 (51.4%) had at least one indicator of ACEOL. AD completed at any time reduced ACEOL (OR 0.80, 95%CI 0.64–0.99). Palliative care was associated with a greater risk of ACEOL at 30 days (OR 5.32, 95% CI 3.94–7.18) and between 30 and 90 days (OR 1.39,95% CI 1.07–1.80), but dramatically reduced ACEOL at > 90 days (OR 0.46,95% CI 0.38–0.57).The most common indicator of ACEOL was new chemotherapy within 30 days of death, in 571 of 888 (64%) of patients experiencing ACEOL.
Discussion
AD reduce ACEOL and often reflect goals of care and end-of-life discussions in the transition of care away from tumor directed therapy. Palliative care paradoxically in our experience is associated with greater ACEOL in the first 90 days since consultation occurs late in the course of illness and the focus is on crisis management in patients who are frequently utilizing the health care system. If palliative care consultation occurs greater than 90 days before death, there is the opportunity for both aggressive symptom management and end of life discussions which may influence aggressive care at the end of life.
Conclusions
An initial palliative care consult greater than 90 days before death and ADs completed at any time during the disease trajectory significantly impacts care at the end of life. Both should become quality metrics for good cancer care.
Outcomes of Four-Point Suture Fixated And Two-Point Sutureless Posterior Chamber IOLs Combined With Pars Plana Vitrectomy
Authors: Zyablitskaya Mariya , Hong Estee , Chen Royce W.S. , Chang Stanley , Suh Leejee H. 
Published: September 2021

Abstract
Background: While each scleral fixation method has its own advantages, there is a lack of strong evidence to suggest a superior technique. Advances in cataract surgery expand patient eligibility for successful cataract extraction, benefitting a growing population of pseudophakic patients. However, implantation of secondary intraocular lens (IOL) with compromised anterior or posterior capsule is a more challenging task. Each method of scleral fixation has its own advantages and none of them has strong evidence to be superior. This paper describes postsurgical outcomes of two scleral intraocular(IOL) fixation techniques combined with pars plana vitrectomy(PPV) from a single tertiary referral eye center.Methods: Patients underwent PPV and IOL implantation with either four-point sutured scleral fixation (Akreos AO60(AK); n=24) or two-point sutureless flanged intrascleral fixation (CT Lucia(CTL); n=7). Reports include IOL and sclerotomy placement, fixation techniques, and IOL model. Results: 31 eyes of 30 patients were analyzed. Average change in vision from baseline measurement was LogMAR -0.68±0.66 and -0.90 ±0.63 for AK and CTL groups, respectively. Average postoperative refractive error was -0.3 ±1.03 D (AK) and 0.4 ±0.60 D (CTL). No opacification cases of Akreos lens were found in this study with the longest follow up of 53 months.Conclusions: Both methods of implantation (sutured and sutureless) could provide good visual and refractive outcomes. Minimal complication rates were reported despite including patients with multiple comorbidities, making both techniques an attractive choice for secondary IOL implantation.
Tmem45b is essential for inflammation and tissue injury-induced persistent mechanical hyperalgesia
Authors: Tanioku Tadashi , Nishibata Masayoshi , Tokinaga Yasuyuki , Konno Kohtarou , Watanabe Masahiko , Hemmi Hiroaki , Ohta Yuri , Kaisho Tsuneyasu , Kawamata Tomoyuki 
Published: September 2021

Abstract
Persistent mechanical hyperalgesia, associated with peripheral inflammation and tissue injury, impairs patient’s quality of life and daily activity. However, its molecular mechanism and treatment are yet to be deciphered. Herein, we report that Tmeme45b is expressed in a subset of unmyelinated primary sensory neurons and plays an essential role in inflammation and tissue injury-induced mechanical hyperalgesia. Our findings provide new insights into the mechanisms and the treatment of mechanical hyperalgesia.
Evaluation of Ethylene Oxide, Gamma Radiation, Dry Heat and Autoclave Sterilization Processes on Extracellular Matrix of Biomaterial Dental Scaffolds
Authors: Iwamoto Luciana , Duailibi Monica , Iwamoto Gerson , Oliveira Debora , Duailibi Silvio 
Published: September 2021

Abstract
Scaffolds to receive stem cells are a promising perspective of tissue regeneration research, and one of the most effective solutions to rebuild organs. In the near future will be possible to reconstruct a natural tooth using stems cells, but to avoid an immune-defensive response, sterilize the scaffold is not only desired but also essential to succeed. A previous study from the group, confirmed the insertion of stem cells extracted from rat’s natural teeth, and implanted into the alveolar bone, could differentiate themselves in dental cells, but the scaffold’s chemistry, geometry, density, morphology, adherence, biocompatibility and mechanical properties remained an issue. This study intended to produce a completely sterilized dental scaffold with preserved extracellular matrix. Sixty samples were collected, kept in formaldehyde, submitted to demineralization and decellularization processes and sterilized using four different methods: dry heating; autoclave; ethylene-oxide and gamma-radiation. They were characterized through colorimeter scale, optical images, radiography, micro-hardness, XRD, EDS, XRF, SEM and sterility test. The results evidenced the decellularization alone is not enough to eliminate micro-organisms from dental scaffolds, and the four sterilization methods were fully effective with preservation of ECM. The dry heat and autoclave could be detached from others because of cost-benefit, but ethylene oxide or gamma radiation should not be discarded mainly if it is considered other possible applications.
Clinical Spectrum of Adult-Onset Still’s Disease in Patients Presenting At A Tertiary Care Hospital in Pakistan: A 16-Year Follow-Up Study
Authors: Riaz Mehmood , Arshad Ainan , Baqir Syed Mujtaba , Isra Ahmed 
Published: September 2021

Abstract
Objectives
Adult-onset Still’s Disease (AOSD) is a rare systemic auto-inflammatory disorder with a low incidence rate and limited data. This study aims to lay down the clinical and laboratory spectrum, associated complications, and outcomes of patients who presented to a tertiary care center – in order to identify any regional variation in the presentation and enable physicians to develop a thought process in patients without characteristic features.
Materials and Methods
We reviewed the records of patients from January 2005 - February 2021 who presented with symptoms consistent with AOSD, using the Yamaguchi criteria. The patients’ clinical symptoms, laboratory values, therapeutic management, complications, and outcomes were analysed. Descriptive statistics were produced to illustrate the pattern of the disease.
Results
The mean age of patients was 37.7 years, with a male to female ratio of 1:1. Fever and arthralgia was seen in 90%, a salmon-coloured rash in 60%, and leukocytosis in 80%. 30% presented with a sore throat and recent lymphadenopathy, 40% with hepatomegaly and/or splenomegaly on imaging, 100% with abnormal liver function tests. Steroids were used as first-line treatment. Most patients did not present with common, previously reported, complications of AOSD.
Conclusions
The clinical aspects in this study are, to a large part, comparable to those seen in other parts of the world. Thus, a comprehensive analysis of AOSD would enable physicians to broaden their minds and keep it as a top differential in atypical presentations – enhancing patient care by preventing a delay in diagnosis and initiation of prompt management.
Plasma TIMP-1 is a Useful Tool for Monitoring 24 Months Liver Fibrosis Improvement After Anti-HCV /DAA Therapy in HCV/HIV Mono/Coinfection
Authors: Pérez-Is Laura , Collazos Julio , Fuente Belén , Morano Luis , Rivas-Carmenado Maria , Rodriguez Manuel , Romero-Favela Adolfo , Fonseca–González Galilea de Jesús , Melón Santiago , Valle-Garay Eulalia , Asensi Víctor 
Published: September 2021

Abstract
Long term liver fibrosis (LF) changes and their best -monitoring non-invasive tools after effective anti-HCV DAA therapy are little- known. Matrix-metalloproteases (MMPs) and their tissue-inhibitors (TIMPs) are pivotal in liver inflammation repair .Their plasma levels might assess long term LF changes after therapy. Overall 374 HCV-infected adult patients, 214 HCV-HIV coinfected, were followed-up for 24 months after starting DAA. LF was assessed by transient elastometry (TE), biochemical indexes (APRI, Forns, FIB-4) and, in 61 individuals, by MMPs and TIMP-1 plasma levels. Several MMPs and TIMP-1 SNPs were genotyped in 319 patients.TE was better than biochemical indexes for early and long-term LF monitoring. MMPs-2,-8,-9 and-TIMP-1 levels and TE displayed parallel decreasing curves although only TIMP-1 correlated with TE (P=0.006) and biochemical indexes (P<0.02). HCV monoinfected had significantly higher baseline LF and TIMP-1 plasma levels, but lower MMPs levels than coinfected patients or between different DAA regimens. Only the MMP-2 (-1306 C/T) variant TT genotype associated with higher degrees of fibrosis LF regression extends 24 months after therapy. TE and TIMP1 are the most reliable LF-monitoring tools. LF courses were similar in mono- and coinfected patients, DAA regimens type did not influence fibrosis course.
Development of FRET-Based Indicators For Visualizing Homophilic Trans Interaction of A Clustered Protocadherin
Authors: Kanadome Takashi , Hoshino Natsumi , Nagai Takeharu , Matsuda Tomoki , Yagi Takeshi 
Published: September 2021

Abstract
Clustered protocadherins (Pcdhs), which are cell adhesion molecules, play a fundamental role in self-recognition and non-self-discrimination by conferring diversity on the cell surface. Although systematic cell-based aggregation assays provide information regarding the binding properties of Pcdhs, direct visualization of Pcdh trans interactions across cells remains challenging. Here, we present Förster resonance energy transfer (FRET)-based indicators for directly visualizing Pcdh trans interactions. We developed the indicators by individually inserting FRET donor and acceptor fluorescent proteins (FPs) into the ectodomain of Pcdh molecules. They enabled successful visualization of specific trans interactions of Pcdh and revealed that the Pcdh trans interaction is highly sensitive to changes in extracellular Ca2+ levels. We expect that FRET-based indicators for visualizing Pcdh trans interactions will provide a new approach for investigating the roles of Pcdh in self-recognition and non-self-discrimination processes.
Shaking Table Test On Dynamic Response of Bridge Pile Foundation Near Fault Under Strong Earthquake
Authors: Zhang Cong , Feng Zhong Ju , Kong Yuan Yuan , Guan Yun Hui , Dong Yun Xiu , Chen Hui Yun 
Published: September 2021

Abstract
Taking Puqian bridge as the prototype, a 1:30-scale pile-soil-fault interaction model was established. Through the shaking table test, the difference of dynamic response of pile foundation on both sides of fault under 0.15~0.60g ground motion intensity was studied. The pile acceleration, pile top relative displacement, and pile bending moment on both sides of the fault are compared respectively. Research results showed that under the action of a strong earthquake, the pile foundation on the hanging wall was greatly affected by ground motion, and “the hanging wall effect” was significant. As the ground motion intensity increased, the “hanging wall effect” of the pile foundation was more obvious. Combined with the fundamental frequency response and the test phenomenon, when ground motions intensity was strong, cracks appeared near the joint of pile top and platform, soil interface, and bedrock surface. When building a bridge pile foundation near the fault, the seismic design of the pile foundation on the hanging wall of the fault is mainly considered.