bluuebunny/crossref_metadata_2025_split huggingface dataset:
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population
Authors: Chen Yong-Ping , Yu Shi-Hui , Wei Qian-Qian , Cao Bei , Gu Xiao-Jing , Chen Xue-Ping , Song Wei , Zhao Bi , Wu Ying , Sun Ming-Ming , Liu Fei-Fei , Hou Yan-Bing , Ou Ru-Wei , Zhang Ling-Yu , Liu Kun-Cheng , Lin Jun-Yu , Xu Xin-Ran , Li Chun-Yu , Yang Jing , Jiang Zheng , Liu Jiao , Cheng Yang-Fan , Xiao Yi , Chen Ke , Feng Fei , Cai Ying-Ying , Li Shi-Rong , Hu Tao , Yuan Xiao-Qin , Guo Xiao-Yan , Liu Hui , Han Qing , Zhou Qing-Qing , Shao Na , Li Jian-Peng , Pan Ping-Lei , Ma Sha , Shang Hui-Fang 
Published: September 2021

BackgroundA large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers.MethodsA total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed.Findings155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition.ConclusionsOur data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.
Stent-assisted coiling of dural sinus diverticula: a case series
Authors: Keshary Sanjeev Raj , Everett Travis , Alvarado Anthony Michael , Abraham Michael G 
Published: September 2021

BackgroundDural sinus diverticula are a rare vascular etiology of pulsatile tinnitus. Patients typically present with disabling symptoms and undergo an extensive workup for common causes of pulsatile tinnitus. Endovascular treatment has been shown to be effective in several case reports. We present the largest case series of eight patients treated with endovascular therapy using stent-assisted coiling and describe the unique details of intervention.MethodsA retrospective chart review was performed on all patients who underwent endovascular dural sinus stenting.ResultsOne-hundred-twenty patients underwent dural sinus stetnting from August 2012 to February 2020. Eight of these had symptomatic pulsatile tinnitus secondary to a dural sinus diverticulum and were successfully treated with stent-assisted coil embolization. No complications occurred.ConclusionOur case series demonstrates that endovascular dural sinus stent-assisted coil embolization for symptomatic dural sinus diverticula is a safe and effective treatment.
Predictors of futile recanalization after endovascular treatment in acute ischemic stroke: a meta-analysis
Authors: Deng Gang , Xiao Jun , Yu Haihan , Chen Man , Shang Ke , Qin Chuan , Tian Dai-Shi 
Published: September 2021

BackgroundDespite successful recanalization after endovascular treatment, many patients with acute ischemic stroke due to large vessel occlusion still show functional dependence, namely futile recanalization.MethodsPubMed and Embase were searched up to April 30, 2021. Studies that reported risk factors for futile recanalization following endovascular treatment of acute ischemic stroke were included. The mean difference (MD) or odds ratio (OR) and 95% confidence interval (95% CI) of each study were pooled for a meta-analysis.ResultsTwelve studies enrolling 2138 patients were included. The pooled analysis showed that age (MD 5.81, 95% CI 4.16 to 7.46), female sex (OR 1.40, 95% CI 1.16 to 1.68), National Institutes of Health Stroke Scale (NIHSS) score (MD 4.22, 95% CI 3.38 to 5.07), Alberta Stroke Program Early CT Score (ASPECTS) (MD −0.71, 95% CI −1.23 to –0.19), hypertension (OR 1.73, 95% CI 1.43 to 2.09), diabetes (OR 1.78, 95% CI 1.41 to 2.24), atrial fibrillation (OR 1.24, 95% CI 1.01 to 1.51), admission systolic blood pressure (MD 4.98, 95% CI 1.87 to 8.09), serum glucose (MD 0.59, 95% CI 0.37 to 0.81), internal carotid artery occlusion (OR 1.85, 95% CI 1.17 to 2.95), pre-treatment intravenous thrombolysis (OR 0.67, 95% CI 0.55 to 0.83), onset-to-puncture time (MD 16.92, 95% CI 6.52 to 27.31), puncture-to-recanalization time (MD 12.37, 95% CI 7.96 to 16.79), and post-treatment symptomatic intracerebral hemorrhage (OR 6.09, 95% CI 3.18 to 11.68) were significantly associated with futile recanalization.ConclusionThis study identified female sex, comorbidities, admission systolic blood pressure, serum glucose, occlusion site, non-bridging therapy, and post-procedural complication as predictors of futile recanalization, and also confirmed previously reported factors. Further large-scale prospective studies are needed.
Cost-effectiveness analysis of endovascular coiling and neurosurgical clipping for aneurysmal subarachnoid hemorrhage in Thailand
Authors: Duangthongphon Pichayen , Kitkhuandee Amnat , Munkong Waranon , Limwattananon Phumtham , Waleekhachonloet Onanong , Rattanachotphanit Thananan , Limwattananon Supon 
Published: September 2021

BackgroundFor patients with aneurysmal subarachnoid hemorrhage (aSAH), the Universal Coverage Scheme in Thailand covers the full costs of surgical and endovascular procedures except for those of embolization coils and assisting devices. Costs and effectiveness were compared between endovascular coiling and neurosurgical clipping to inform reimbursement policy decisions.MethodsCosts and quality-adjusted life years (QALYs) were compared between coiling and clipping using the decision tree and Markov models. Mortality and functional outcomes of clipping were derived from national and hospital databases, and relative efficacies of coiling were obtained from meta-analyses of randomized controlled trials. Risks of rebleeding were abstracted from the International Subarachnoid Aneurysm Trial. Costs of the primary treatments, retreatments and follow-up care as well as utilities were obtained from hospital-based data. Non-health and indirect costs were abstracted from standard cost lists.ResultsCoiling and clipping contributed 10.59 and 9.28 QALYs to patients aged in their 50s. Under the societal and healthcare perspectives, the incremental costs incurred by coiling compared with clipping were US$1923 and $4343, respectively, which were equal to the incremental cost-effectiveness ratio of US$1470 and $3321 per QALY gained, respectively. Coiling became a cost-saving option when the costs of coil devices were reduced by 65.7%. At the country’s cost-effectiveness threshold of US$5156, the probability of coiling being cost-effective was 71.3% and 65.6%, under the societal and healthcare perspectives, respectively.ConclusionEndovascular treatment for aSAH is cost-effective and this evidence supports coverage by national insurance.
Hyperechogenic intimal lesions and wall thickness of the temporal and facial arteries in elderly patients with arterial occlusions of the eye
Authors: Czihal Michael , Köhler Anton , Prearo Ilaria , Hoffmann Ulrich , Schulze-Koops Hendrik , Dechant Claudia , Priglinger Siegfried G , Mackert Marc J , Lottspeich Christian 
Published: September 2021

ObjectiveTo determine the association of arteriosclerosis, characterised by hyperechogenic intimal lesions (HIL), with wall thickness of the temporal and facial arteries in elderly patients with ocular arterial occlusions.MethodsPatients suffering from non-arteritic ocular perfusion disorders were included. High-resolution compression sonography (18 MHz) images of the temporal arteries (frontal and parietal branch at the upper margin of the auricle) and facial arteries (at the crossing point of the artery over the mandible) were analysed for the presence of HIL (grade 0: absent; grade 1: moderate; grade 2: severe). Characteristics of patients with and without evidence of HIL >grade 1 were compared.ResultsIn total, 330 cranial artery segments of 55 patients were analysed. HIL ≥grade 1 was present in 13.0% of all artery segments and in 38.1% of all patients. Patients with HIL ≥grade 1 in at least one arterial segment displayed significantly increased maximum wall thickness of the temporal arteries (0.62±0.23 mm vs 0.50±0.13 mm; p<0.01) and facial arteries (0.71±0.20 mm vs 0.54±0.19 mm; p=0.01). Patients with at least one temporal or facial artery segment with HIL were older, more often male and more frequently suffered from diabetes mellitus.ConclusionThe presence of HIL goes along with a significantly increased wall thickness of the temporal and facial arteries. These findings should be considered when interpreting the results of sonography of the cranial arteries in the diagnostic workup of suspected giant cell arteritis.
Ligustrum luciduminvasion decreases abundance and relative contribution of soil fauna to litter decomposition but increases decomposition rate in a subtropical montane forest of northwestern Argentina
Authors: Fernandez Romina D. , Moreno María L. , Aragón Roxana , Harguindeguy Natalia Pérez 
Published: September 2021

Invasive plant species can alter litter decomposition rates through changes in litter quality, environment conditions, and decomposer organisms (microflora and soil fauna), but limited research has examined their direct impact on soil fauna. We assessed the abundance and relative contribution of soil meso- and macrofauna to litter decomposition in a forest invaded by Ligustrum lucidum W.T. Aiton and in a noninvaded forest in a subtropical mountain forest in northwestern Argentina, using litterbags (0.01, 2, and 6 mm mesh size). Additionally, we analyzed the litter quality and soil properties of both forest types. Soil fauna abundance was lower in the invaded forest than in the noninvaded forest. The contribution of soil macrofauna to litter decomposition was important in both forest types, but soil mesofauna contribution was significant only in noninvaded forest. Litter decomposition was significantly faster in the invaded forest, consistent with its higher quality litter compared with the uninvaded forest. Invaded forest had significantly lower litter accumulation, lower soil moisture, and greater soil pH than noninvaded forest. Our results showed that although soil fauna was less abundant and played a less pronounced role in litter decomposition in invaded forest, these changes did not translate into a reduced litter decomposition rate due to the higher quality of litter produced in the invaded forest.
Radioactive decay of $$\mathrm {{}^{90}Sr}$$ in cement: a non-equilibrium first-principles investigation
Authors: Kohanoff Jorge , Correa Alfredo A. , Gribakin Gleb , Johnston Conrad , Saúl Andrés 
Published: September 2021

Abstract
Cement is an inexpensive and relatively easily manageable material that is used as a last barrier for nuclear waste disposal. Under these conditions, the cement is in contact with low radiation doses, but there is a distinct possibility of being contaminated with radioactive products. Of particular concern is the medium lived half-life product $$\mathrm {{}^{90}Sr}$$

90

Sr

(28.8 years) due to its ability to replace Ca. $$\mathrm {{}^{90}Sr}$$

90

Sr

undergoes $$\beta $$
β
-decay to $$\mathrm {{}^{90}Y}$$

90

Y

which, in turn, $$\beta $$
β
-decays to stable $$\mathrm {{}^{90}Zr}$$

90

Zr

. In this work, we discuss systematically the chain of non-equilibrium processes that result as a consequence of $$\beta $$
β
-decay events in cement. We first use density functional-based methods to study the consequences of the sudden increase of the nuclear charge from $$Z$$
Z
to $$Z+1$$

Z
+
1

, a possible induced ionization and the perturbation of the surrounding electronic charge. Secondly, we use molecular dynamics simulations to study the recoil of the daughter nucleus. Finally, we discuss the damage caused by the ionization cascade produced during the propagation of the $$\beta $$
β
-electron and the resulting chemical and structural perturbation.

Graphic Abstract
External-memory Dictionaries in the Affine and PDAM Models
Authors: Bender Michael A. , Conway Alex , Farach-Colton Martín , Jannen William , Jiao Yizheng , Johnson Rob , Knorr Eric , Mcallister Sara , Mukherjee Nirjhar , Pandey Prashant , Porter Donald E. , Yuan Jun , Zhan Yang 
Published: September 2021

Storage devices have complex performance profiles, including costs to initiate IOs (e.g., seek times in hard drives), parallelism and bank conflicts (in SSDs), costs to transfer data, and firmware-internal operations.

The Disk-access Machine (DAM) model simplifies reality by assuming that storage devices transfer data in blocks of size
B
and that all transfers have unit cost. Despite its simplifications, the DAM model is reasonably accurate. In fact, if
B
is set to the half-bandwidth point, where the latency and bandwidth of the hardware are equal, then the DAM approximates the IO cost on any hardware to within a factor of 2.

Furthermore, the DAM model explains the popularity of B-trees in the 1970s and the current popularity of B
ɛ
-trees and log-structured merge trees. But it fails to explain why some B-trees use small nodes, whereas all B
ɛ
-trees use large nodes. In a DAM, all IOs, and hence all nodes, are the same size.

In this article, we show that the affine and PDAM models, which are small refinements of the DAM model, yield a surprisingly large improvement in predictability without sacrificing ease of use. We present benchmarks on a large collection of storage devices showing that the affine and PDAM models give good approximations of the performance characteristics of hard drives and SSDs, respectively.

We show that the affine model explains node-size choices in B-trees and B
ɛ
-trees. Furthermore, the models predict that B-trees are highly sensitive to variations in the node size, whereas B
ɛ
-trees are much less sensitive. These predictions are born out empirically.

Finally, we show that in both the affine and PDAM models, it pays to organize data structures to exploit varying IO size. In the affine model, B
ɛ
-trees can be optimized so that all operations are simultaneously optimal, even up to lower-order terms. In the PDAM model, B
ɛ
-trees (or B-trees) can be organized so that both sequential and concurrent workloads are handled efficiently.

We conclude that the DAM model is useful as a first cut when designing or analyzing an algorithm or data structure but the affine and PDAM models enable the algorithm designer to optimize parameter choices and fill in design details.
Effect of Dry Thermal Oxidation on Bulk GaN Substrates Grown by HVPE during CMP
Authors: Kang Hyo Sang , Lee Joo Hyung , Lee Hee Ae , Lee Seung Hoon , Park Won Il , Lee Seong Kuk , Park Jae Hwa , Yi Sung Chul 
Published: September 2021

Chemical mechanical polishing (CMP) of bulk GaN substrates via dry thermal oxidation is investigated in this paper. In this work, we study the effects of oxidation with respect to different thermal treatments, change in morphology and thickness on bulk GaN substrates. The results of the study show that a defect-free surface with roughness average (Ra) and material removal rate (MRR) of 0.377 nm and 51 μm/h respectively is achievable by CMP after thermal treatment at 800°C. However, for thermal treatments above 900°C, several pits and defects are observed with significant deformation of the surface likely due to the domination of diffusion-controlled reaction over interfacial reaction-controlled. The molar fractions of the chemical components remained on the polished GaN surfaces are characterized via X-ray photoelectron spectroscopy. It is found that the conversion rate from GaN to Ga2O3 is dependent on the real contact area between CMP pad and GaN substrate surface during the CMP.
IL13Rα2 Promotes Proliferation and Outgrowth of Breast Cancer Brain Metastases
Authors: Márquez-Ortiz R. Alejandro , Contreras-Zárate Maria J. , Tesic Vesna , Alvarez-Eraso Karen L.F. , Kwak Gina , Littrell Zachary , Costello James C. , Sreekanth Varsha , Ormond D. Ryan , Karam Sana D. , Kabos Peter , Cittelly Diana M. 
Published: September 2021

Abstract

Purpose:
The survival of women with brain metastases (BM) from breast cancer remains very poor, with over 80% dying within a year of their diagnosis. Here, we define the function of IL13Rα2 in outgrowth of breast cancer brain metastases (BCBM) in vitro and in vivo, and postulate IL13Rα2 as a suitable therapeutic target for BM.

Experimental Design:
We performed IHC staining of IL13Rα2 in BCBM to define its prognostic value. Using inducible shRNAs in TNBC and HER2+ breast–brain metastatic models, we assessed IL13Rα2 function in vitro and in vivo. We performed RNAseq and functional studies to define the molecular mechanisms underlying IL13Rα2 function in BCBM.

Results:
High IL13Rα2 expression in BCBM predicted worse survival after BM diagnoses. IL13Rα2 was essential for cancer-cell survival, promoting proliferation while repressing invasion. IL13Rα2 KD resulted in FAK downregulation, repression of cell cycle and proliferation mediators, and upregulation of Ephrin B1 signaling. Ephrin-B1 (i) promoted invasion of BC cells in vitro, (ii) marked micrometastasis and invasive fronts in BCBM, and (iii) predicted shorter disease-free survival and BM-free survival (BMFS) in breast primary tumors known to metastasize to the brain. In experimental metastases models, which bypass early tumor invasion, downregulation of IL13Rα2 before or after tumor seeding and brain intravasation decreased BMs, suggesting that IL13Rα2 and the promotion of a proliferative phenotype is critical to BM progression.

Conclusions:
Non-genomic phenotypic adaptations at metastatic sites are critical to BM progression and patients' prognosis. This study opens the road to use IL13Rα2 targeting as a therapeutic strategy for BM.
Effect of Adjusted Antiplatelet Therapy on Preventing Ischemic Events After Stenting for Intracranial Aneurysms
Authors: Li Wenqiang , Zhu Wei , Wang Anxin , Zhang Guojun , Zhang Yisen , Wang Kun , Zhang Ying , Wang Chao , Zhang Limin , Zhao Hui , Wang Ping , Chen Kelin , Liu Jian , Yang Xinjian 
Published: September 2021

Background and Purpose:
This study tests whether patients with unruptured intracranial aneurysm who underwent stent placement benefitted from platelet function monitoring–guided adjustment of antiplatelet therapy.

Methods:
We conducted a randomized, open-label, parallel group, assessor-blinded trial. Patients with unruptured intracranial aneurysm who underwent stent placement were assigned in a 1:1 ratio to receive either drug adjustment (patients who had high on-treatment platelet reactivity to antiplatelet therapy on the basis of platelet function monitoring [monitoring group]) or conventional therapy (without monitoring and drug adjustment [conventional group]). The second monitoring was performed 14 days after randomization in patients with drug adjustment. The primary outcome was the composite frequency of ischemic stroke, transient ischemic attack, stent thrombosis, urgent revascularization, and cerebrovascular death within 7 days after stent implantation. The safety outcome was the composite frequency of major, minor, or minimal bleeding within 1 month after stent implantation.

Results:

In total, 314 patients were included (n=157 per group). The primary combined outcome occurred in 19 patients (12.1%) in the conventional group and 8 patients (5.1%) in the monitoring group (hazard ratio, 0.39 [95% CI, 0.17–0.92];
P
=0.03). Ischemic stroke occurred at a lower frequency in the monitoring group compared with that in the conventional group (4.5% versus 12.1%; hazard ratio, 0.34 [95% CI, 0.14–0.83];
P
=0.01), which drove the overall primary combined outcome. The safety outcome occurred in the monitoring group (7.0%) and in the conventional group (1.9%; hazard ratio, 3.87 [95% CI, 1.06–14.14];
P
=0.03). A significant difference was observed in the frequency of minor or minimal bleeding events between the two groups (monitoring group versus conventional group, 6.4% versus 1.3%;
P
=0.02) but not in the frequency of major bleeding events between the two groups.

Conclusions:
Platelet function monitoring–guided antiplatelet therapy reduces thromboembolic events in patients with unruptured intracranial aneurysm after stent placement, significantly enhancing minor or minimal bleeding events but not major bleeding events.

Registration:

URL:
https://www.clinicaltrials.gov
; Unique identifier: NCT03989557.
Relation Between the Corticospinal Tract State and Activities of Daily Living in Patients With Intracerebral Hemorrhage
Authors: Jang Sung Ho , Choi Eun Bi 
Published: September 2021

Background and Purpose:
We investigated the relation between the ipsilesional corticospinal tract (CST) state and activity of daily living independence in patients with chronic intracerebral hemorrhage.

Methods:
Fifty-six consecutive patients with unilateral intracerebral hemorrhage and 38 healthy control subjects were recruited for this study. The Motricity index and the modified Barthel index were used to evaluate motor function of the affected extremities and activity of daily living independence, respectively. The diffusion tensor imaging parameter values for fractional anisotropy (FA) and voxel number (VN) of the CST were determined. Ratios of the ipsilesional to the contralesional CST measures were calculated and are presented as the CST-ratio (FA value and VN).

Results:

The FA value and VN of the ipsilesional CST and the CST-ratio in the patient group were lower than those of the control group (
P
<0.05). There was a strong positive correlation between the Motricity index score of the affected extremities and the modified Barthel index score (
P
<0.05), while the FA value and VN of the ipsilesional CST and the CST-ratio showed moderate and strong positive correlations with the Motricity index and modified Barthel index scores, respectively (
P
<0.05). In addition, the VN of the ipsilesional CST showed excellent utility as a classifier, whereas the FA value of the ipsilesional CST and the FA value and VN of the CST-ratio showed good classifier utility (
P
<0.05).

Conclusions:
We demonstrated that impairment of activity of daily living independency was closely related to the injury severity of the ipsilesional CST in patients with chronic intracerebral hemorrhage. In addition, the injury severity of the ipsilesional CST can be used to classify the degree of activity of daily living independency.

Registration:

URL:
http://www.e-irb.com/index.jsp
; Unique identifier: 2021-03-014.