bluuebunny/crossref_metadata_2025_split huggingface dataset:
SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family
Authors: Wang Guo-qin , Rui Hong-liang , Dong Hong-rui , Sun Li-jun , Yang Min , Wang Yan-yan , Ye Nan , Zhao Zhi-rui , Liu Xue-jiao , Xu Xiao-yi , Chen Yi-pu , Cheng Hong 
Published: May 2020

AbstractWe reported a large Chinese family diagnosed with autosomal dominant tubulointerstitial kidney disease caused by MUC1 mutation (ADTKD-MUC1). Cytosine duplication within a string of 7 cytosines in the variable-number tandem repeats (VNTR) region of the MUC1 gene was detected by long-read single-molecule real-time (SMRT) sequencing. MUC1 frameshift protein (MUC1fs) was found to be expressed in renal tubules and urinary exfoliated cells by pathological examination. The family, which consisted of 5 generations including 137 individuals, was followed for 5 years. Genetic testing was performed in thirty-four individuals, 17 of whom carried MUC1 mutations. The ADTKD-MUC1-affected individuals had an elevated incidence of hyperuricaemia without gout attack. Within five years, higher baseline levels of urinary α1-microglobulin were detected in affected individuals with rapidly progressing renal failure than in affected individuals with stable renal function, and the increases manifested even before increases in serum creatinine. This study demonstrates that SMRT sequencing is an effective method for the identification of MUC1 mutations. The pathological examination of MUC1fs expression in renal tissue and urinary exfoliated cells can contribute to early screening of family members suspected to be affected. It is suggested that affected individuals with elevated urinary α1-microglobulin levels should be closely monitored for renal function.
Follicular extracellular vesicles enhance meiotic resumption of domestic cat vitrified oocytes
Authors: de Almeida Monteiro Melo Ferraz Marcia , Fujihara Mayako , Nagashima Jennifer Beth , Noonan Michael James , Inoue-Murayama Miho , Songsasen Nucharin 
Published: May 2020

AbstractExtracellular vesicles (EVs) contain multiple factors that regulate cell and tissue function. However, understanding of their influence on gametes, including communication with the oocyte, remains limited. In the present study, we characterized the proteome of domestic cat (Felis catus) follicular fluid EVs (ffEV). To determine the influence of follicular fluid EVs on gamete cryosurvival and the ability to undergo in vitro maturation, cat oocytes were vitrified using the Cryotop method in the presence or absence of ffEV. Vitrified oocytes were thawed with or without ffEVs, assessed for survival, in vitro cultured for 26 hours and then evaluated for viability and meiotic status. Cat ffEVs had an average size of 129.3 ± 61.7 nm (mean ± SD) and characteristic doughnut shaped circular vesicles in transmission electron microscopy. Proteomic analyses of the ffEVs identified a total of 674 protein groups out of 1,974 proteins, which were classified as being involved in regulation of oxidative phosphorylation, extracellular matrix formation, oocyte meiosis, cholesterol metabolism, glycolysis/gluconeogenesis, and MAPK, PI3K-AKT, HIPPO and calcium signaling pathways. Furthermore, several chaperone proteins associated with the responses to osmotic and thermal stresses were also identified. There were no differences in the oocyte survival among fresh and vitrified oocyte; however, the addition of ffEVs to vitrification and/or thawing media enhanced the ability of frozen-thawed oocytes to resume meiosis. In summary, this study is the first to characterize protein content of cat ffEVs and their potential roles in sustaining meiotic competence of cryopreserved oocytes.
Gender-Specific Association between Serum Uric Acid and Incident Fundus Arteriosclerosis in Chinese Population: A Retrospective Cross-Sectional Study
Authors: Liu Qianqian , Liu Chunxing , Gao Yonghui , Zhang Xinyan , Yi Nengjun , Cao Jianping , Wang Yamin , Jiang Yongbin , Tang Zaixiang 
Published: May 2020

AbstractElevated levels of serum uric acid (SUA) were considered to be risk factors for cardiovascular disease, it has been found to be associated with increased arteriosclerosis. The aim of this study was to explore the gender specific relationship between SUA and fundus arteriosclerosis in a healthy population. In a retrospective cross-sectional study, 23474 individuals without diabetes and hypertension were included in the present study. SUA levels were cut to four groups as Q1 to Q4, according to the quartiles. The odds ratio and 95% confidence interval of different SUA levels were estimated by a binomial logistic regression model. A restrictive cubic spline method was used to estimate the dose-response relationship between SUA and fundus arteriosclerosis. Subgroup analysis was performed to find the gender-specific association between SUA and incident fundus arteriosclerosis. In males, after adjusting for confounding factors, the highest SUA level was significantly associated with the risk of incident fundus arteriosclerosis. The OR with 95%CI for Q4 was 1.44(1.18, 1.76), Q1 as a reference. Specially, for females, SUA level was not associated with the incidence of fundus arteriosclerosis. In conclusion, elevated levels of SUA were associated with the incidence of fundus arteriosclerosis in males, but not in females.
The ubiquitin-conjugating enzyme UBE2K determines neurogenic potential through histone H3 in human embryonic stem cells
Authors: Fatima Azra , Irmak Dilber , Noormohammadi Alireza , Rinschen Markus M. , Das Aniruddha , Leidecker Orsolya , Schindler Christina , Sánchez-Gaya Víctor , Wagle Prerana , Pokrzywa Wojciech , Hoppe Thorsten , Rada-Iglesias Alvaro , Vilchez David 
Published: May 2020

AbstractHistones modulate gene expression by chromatin compaction, regulating numerous processes such as differentiation. However, the mechanisms underlying histone degradation remain elusive. Human embryonic stem cells (hESCs) have a unique chromatin architecture characterized by low levels of trimethylated histone H3 at lysine 9 (H3K9me3), a heterochromatin-associated modification. Here we assess the link between the intrinsic epigenetic landscape and ubiquitin-proteasome system of hESCs. We find that hESCs exhibit high expression of the ubiquitin-conjugating enzyme UBE2K. Loss of UBE2K upregulates the trimethyltransferase SETDB1, resulting in H3K9 trimethylation and repression of neurogenic genes during differentiation. Besides H3K9 trimethylation, UBE2K binds histone H3 to induce its polyubiquitination and degradation by the proteasome. Notably, ubc-20, the worm orthologue of UBE2K, also regulates histone H3 levels and H3K9 trimethylation in Caenorhabditis elegans germ cells. Thus, our results indicate that UBE2K crosses evolutionary boundaries to promote histone H3 degradation and reduce H3K9me3 repressive marks in immortal cells.
Remote detection and recording of atomic-scale spin dynamics
Authors: Elbertse R. J. G. , Coffey D. , Gobeil J. , Otte A. F. 
Published: May 2020

AbstractAtomic spin structures assembled by means of scanning tunneling microscopy (STM) provide valuable insight into the understanding of atomic-scale magnetism. Among the major challenges are the detection and subsequent read-out of ultrafast spin dynamics due to a dichotomy in travel speed of these dynamics and the probe tip. Here, we present a device composed of individual Fe atoms that allows for remote detection of spin dynamics. We have characterized the device and used it to detect the presence of spin waves originating from an excitation induced by the STM tip several nanometres away; this may be extended to much longer distances. The device contains a memory element that can be consulted seconds after detection, similar in functionality to e.g. a single photon detector. We performed statistical analysis of the responsiveness to remote spin excitations and corroborated the results using basic calculations of the free evolution of coupled quantum spins.
The IACOB project
Authors: Holgado G. , Simón-Díaz S. , Haemmerlé L. , Lennon D. J. , Barbá R. H. , Cerviño M. , Castro N. , Herrero A. , Meynet G. , Arias J. I. 
Published: May 2020

Context. The apparent lack of massive O-type stars near the zero-age main sequence, or ZAMS (at ages <2 Myr), is a topic that has been widely discussed in the past 40 yr. Different explanations for the elusive detection of these young massive stars have been proposed from the observational and theoretical side, but no firm conclusions have been reached yet.
Aims. We reassess this empirical result here, benefiting from the high-quality spectroscopic observations of (more than 400) Galactic O-type stars gathered by the IACOB and OWN surveys.
Methods. We used effective temperatures and surface gravities resulting from a homogeneous semi-automatized IACOB-GBAT/FASTWIND spectroscopic analysis to locate our sample of stars in the Kiel and spectroscopic Hertzsprung-Russell (sHR) diagrams. We evaluated the completeness of our magnitude-limited sample of stars as well as potential observational biases affecting the compiled sample using information from the Galactic O star catalog. We discuss limitations and possible systematics of our analysis method, and compare our results with other recent studies using smaller samples of Galactic O-type stars. We mainly base our discussion on the distribution of stars in the sHR diagram in order to avoid the use of still uncertain distances to most of the stars in our sample. However, we also performed a more detailed study of the young cluster Trumpler-14 as an illustrative example of how Gaia cluster distances can help to construct the associated classical HR diagram.
Results. We find that the apparent lack of massive O-type stars near the ZAMS with initial evolutionary masses in the range between ≈30 and 70 M⊙ still persist even when spectroscopic results from a large non-biased sample of stars are used. We do not find any correlation between the dearth of stars close to the ZAMS and obvious observational biases, limitations of our analysis method, and/or the use of one example spectroscopic HR diagram instead of the classical HR diagram. Finally, by investigating the effect of the efficiency of mass accretion during the formation process of massive stars, we conclude that an adjustment of the mass accretion rate towards lower values than canonically assumed might reconcile the hotter boundary of the empirical distribution of optically detected O-type stars in the spectroscopic HR diagram and the theoretical birthline for stars with masses above ≈30 M⊙. Last, we also discuss how the presence of a small sample of O2-O3.5 stars found much closer to the ZAMS than the main distribution of Galactic O-type star might be explained in the context of this scenario when the effect of nonstandard star evolution (e.g. binary interaction, mergers, and/or homogeneous evolution) is taken into account.
Using computerized assessment in simulated colonoscopy: a validation study
Authors: Vilmann Andreas Slot , Lachenmeier Christian , Svendsen Morten Bo Søndergaard , Søndergaard Bo , Park Yoon Soo , Svendsen Lars Bo , Konge Lars 
Published: May 2020

Abstract
Background and study aims Patient safety during a colonoscopy highly depends on endoscopist competence. Endoscopic societies have been calling for an objective and regular assessment of the endoscopists, but existing assessment tools are time-consuming and prone to bias. We aimed to develop and gather evidence of validity for a computerized assessment tool delivering automatic and unbiased assessment of colonoscopy based on 3 dimensional coordinates from the colonoscope.
Methods Twenty-four participants were recruited and divided into two groups based on experience: 12 experienced and 12 novices. Participants performed twice on a physical phantom model with a standardized alpha loop in the sigmoid colon. Data was gathered directly from the Olympus ScopeGuide system providing XYZ-coordinates along the length of the colonoscope. Five different motor skill measures were developed based on the data, named: Travel Length, Tip Progression, Chase Efficiency, Shaft movement without tip progression, and Looping.
Results The experinced had a lower travel length (P < 0.001), tip progression (P < 0.001), chase efficiency (P = 0.001) and looping (P = 0.006), and a higher shaft movement without tip progression (P < 0.001) reaching the cecum compared with the novices. A composite score was developed based on the five measurements to create a combined score of progression, the 3D-Colonoscopy-Progression-Score (3D-CoPS). The 3D-CoPS revealed a significant difference between groups (experienced: 0.495 (SD 0.303) and novices –0.454 (SD 0.707), P < 0.001).
Conclusion This study presents a novel, real-time computerized assessment tool for colonoscopy, and strong evidence of validity was gathered in a simulation-based setting. The system shows promising opportunities for automatic, unbiased and continuous assessment of colonoscopy performance.
Use of ERCP in the United States over the past decade
Authors: Kröner Paul T. , Bilal Mohammad , Samuel Ronald , Umar Shifa , Abougergi Marwan S. , Lukens Frank J. , Raimondo Massimo , Carr-Locke David L. 
Published: May 2020

Abstract
Background and study aims With newer imaging modalities, indications for use of endoscopic retrograde cholangiopancreatography (ERCP) have changed in the last decade. Despite advances in ERCP, paucity in recent literature regarding utilization and outcomes of ERCP exists. Thus, the aim of this study was to assess the inpatient use of ERCP, outcomes, and most common indications.
Patients and methods Retrospective-cohort study using the Nationwide Inpatient Sample 2007–2016. All patients with ICD9–10CM procedural codes for ERCP were included. The primary outcome was the use of ERCP. Secondary outcomes included determining procedural specifics (stenting, sphincterotomy and dilation), complications (post-ERCP pancreatitis [PEP], bile duct perforation), hospital length of stay, total hospital costs and charges. Multivariate regression analysis was used to adjust for confounders.
Results A total of 1,606,850 patients underwent inpatient ERCP. The mean age was 59 years (60 % female). The total number of ERCPs increased over the last decade. Patients undergoing ERCP in 2016 had greater odds of undergoing bile duct stent placement, pancreatic duct (PD) stenting, biliary dilation, pancreatic sphincterotomy, PEP and biliary perforation. Inpatient mortality decreased. Hospital charges increased, while length of stay (LOS) decreased.
Conclusions The number of ERCPs increased in the past decade. Odds of therapeutic interventions and complications increased. The most common principal diagnoses were choledocholithiasis and gallstone-related AP. Hence, physicians must be aware to promptly diagnose and treat complications. These findings may reflect the increased case complexity and fact that ERCP continues to evolve into an increasingly interventional tool, contrasting from its former role as a predominantly diagnostic and gallstone extraction tool.
Pathophysiology of the Venous Thromboembolism Risk in Preeclampsia
Authors: Kelliher Sarah , Maguire Patricia B. , Szklanna Paulina B. , Weiss Luisa , Ewins Karl , O'Doherty Roseann , Angelov Daniel , Ní Áinle Fionnuala , Kevane Barry 
Published: May 2020

AbstractPreeclampsia complicates up to 8% of pregnancies and is a leading cause of fetomaternal morbidity andmortality. Treatment options are limited, with supportive care and delivery of the placenta representing the cornerstone of current management strategies. Derangements in blood coagulation are wellrecognised in this disorder and appear to favour an increased risk of venous thromboembolism among affected women. This risk appears to be most significant in the postpartum period. The mechanisms underlying this increased thrombosis risk remain to be fully elucidated although increased expression of procoagulant factors, endothelial dysfunction, attenuation of endogenous anticoagulant activity and increased platelet activity have been implicated in the prothrombotic tendency. Preeclampsia is also occasionally complicated by life-threatening haemorrhagic events and current evidence suggests that in some severe manifestations of this disease a coagulopathy with a clinical bleeding tendency may be the predominant haemostatic abnormality. Identifying affected women at significant risk of thrombosis and managing the competing thrombotic and haemorrhagic risks continue to be a significant clinical challenge. Derangements in blood coagulation are also implicated in the pathogenesis of preeclampsia; however, the role of antiplatelet or anticoagulant drugs in the prevention and treatment of this disorder remains a source of considerable debate. In addition, the potential role of specific haemostatic markers as diagnostic or screening tools for preeclampsia has also yet to be determined. Further characterisation of the underlying molecular mechanisms would likely be of major translational relevance and could provide insights into the pathogenesis of this disease as well as the associated haemostatic dysfunction.
Intralesional steroids and endoscopic dilation for anastomotic strictures after esophagectomy: systematic review and meta-analysis
Authors: Dasari Chandra S. , Jegadeesan Ramprasad , Patel Harsh K. , Desai Madhav , Aziz Muhammad , Thoguluvachandrasekar Viveksandeep , Duvvuri Abhiram , Kohli Divyanshoo R. , Repici Alessandro , Siersema Peter D. , Sharma Prateek 
Published: May 2020

Abstract
Background Post-esophagectomy anastomotic strictures are difficult to treat. The impact of adding local steroid injection to endoscopic dilation for the treatment of post-esophagectomy anastomotic strictures is unclear. We conducted a systematic review and meta-analysis to assess the efficacy of performing steroid injection in addition to dilation.
Methods A search was conducted in MEDLINE, Cochrane Library, EMBASE, and Web of Science from inception to January 2019. Randomized controlled trials (RCTs) comparing the efficacy of endoscopic dilation plus either local steroid injection (steroid group) or saline injection (placebo group) were included in the analysis.
Results Three RCTs were eligible for the final analysis: 72 patients (mean age 61.3 years, 74 % male) in the steroid group and 72 patients (mean age 59.6 years, 71 % male) in the placebo group. The mean number of dilations required to resolve the stricture was significantly lower in the steroid group compared with the placebo group, with a mean weighted difference of –1.62 (95 % confidence interval [CI] –2.73 to –0.50; P = 0.004). After 6 months of follow-up, there was a trend toward more patients in the steroid group remaining dysphagia free compared with the placebo group, with a pooled odds ratio of 2.36 (95 %CI 0.94 to 5.91; P = 0.07, I2
= 24 %).
Conclusion This meta-analysis showed that the addition of local steroid injection at the time of dilation for benign anastomotic strictures led to a significant decrease in the number of procedures required to resolve the stricture and may well reduce dysphagia symptoms during follow-up.
Local Ablative Therapies in Oligometastatic NSCLC: New Data and New Directions
Authors: Lang Pencilla , Gomez Daniel R. , Palma David A. 
Published: May 2020

AbstractThe oligometastatic and oligoprogressive disease states have been recently recognized as common clinical scenarios in the management of non-small cell lung cancer (NSCLC). As a result, there has been increasing interest in treating these patients with locally ablative therapies including surgery, conventionally fractionated radiotherapy, stereotactic ablative radiotherapy, and radiofrequency ablation. This article provides an overview of oligometastatic and oligoprogressive disease in the setting of NSCLC and reviews the evidence supporting ablative treatment. Phase II randomized controlled trials and retrospective series suggest that ablative treatment of oligometastases may substantially improve progression-free survival and overall survival, and additional large randomized studies testing this hypothesis in a definitive context are ongoing. However, several challenges remain, including quantifying the possible benefits of ablative therapies for oligoprogressive disease and developing prognostic and predictive models to assist in clinical decision making.
VATS and Minimally Invasive Resection in Early-Stage NSCLC
Authors: Salfity Hai , Tong Betty C. 
Published: May 2020

AbstractLung carcinoma widely affects men and women in the sixth and seventh decades of life. Thorough workup with radiographic imaging, pathologic diagnosis, and cardiopulmonary functional assessment is key to successful treatment. Accurate staging is essential for both assessing prognosis and directing therapy. Early-stage lung cancer is most often treated with anatomic lobectomy; locally advanced cancers may require induction or adjuvant therapies. Any nonnodal metastases will require definitive systemic therapy. Traditionally, surgery was performed with a posterolateral thoracotomy incision, division of the hilar vessels, removal of affected lung parenchyma, and a complete mediastinal and hilar lymph node dissection for accurate pathologic staging. In recent years, however, video-assisted thoracoscopic (VATS) or other minimally invasive approaches have emerged as the standard of care for early-stage disease. Compared with standard thoracotomy, VATS lobectomy offers improved postoperative outcomes as well as potential survival benefit. Thoracoscopic lobectomy is also cost-effective. This article focuses on the technique, outcomes, adaptation, and evolution of thoracoscopic lobectomy and other minimally invasive techniques in the treatment of lung cancer.
All-Polyethylene Tibial Component Does Not Affect Survivorship of Medial Unicompartmental Knee Arthroplasty at Mid-Term Follow-Up
Authors: Gagliardi Michele , Zambianchi Francesco , Franz Alois , Digennaro Vitantonio , Catani Fabio 
Published: May 2020

AbstractThe present study's primary aim was to determine the survivorship of a large cohort of patients implanted with a single design all-polyethylene tibial component medial unicompartmental knee arthroplasty (UKA). Its secondary purpose was to investigate the reasons underlying implant failure, with specific attention to component positioning and limb alignment. Between 2007 and 2013, 166 patients underwent medial UKA with a single design all-polyethylene tibial component at two centers. Preoperatively and postoperatively, patients were administered clinical outcome scores and radiographic information were collected. Postoperative complications and causes of revision were recorded. A total of 140 patients (80 in Center A and 60 in Center B) who underwent all-polyethylene tibial component medial UKA (82 cases in Center A and 60 in Center B) were taken into account. Kaplan–Meier cumulative survivorship of implants was 96.5% (confidence interval [CI]: 91.7–98.6%) at an average follow-up of 61.1 months. Tibial aseptic loosening was accounted for failure in one case, while no correlation was found between implant positioning and failure. Two revisions were performed in Center A and three in Center B. Slight correction of the preoperative varus deformity was performed at both centers. All-polyethylene tibial component UKA provided satisfactory clinical and functional outcome, with excellent survival rate in the early and mid-term follow-up. Continued patient follow-up is needed to determine long-term survivorship of the examined UKA model.