bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome
Authors: Binder Gerhard , Ziegler Julian , Schweizer Roland , Habhab Wisam , Haack Tobias B. , Heinrich Tilman , Eggermann Thomas 
Published: October 2020

Abstract
Background
Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital anomalies. Recently, a maternally inherited CDKN1C missense mutation (p.Arg279Leu) was identified in several members of a single family clinically diagnosed with Silver–Russell syndrome (SRS) but without adrenal insufficiency. Thereafter, two half siblings from UK with familial SRS were described who carried the same mutation. This specific amino acid change is located within a narrow functional region containing the mutations previously associated with IMAGe syndrome.

Results
Here, we describe a third familial case with maternally inherited SRS due to a missense variant affecting the same amino acid position 279 but leading to a different amino acid substitution (p. (Arg279Ser)). The two affected family members (mother and son) presented with the complete SRS phenotype (both Netchine–Harbison CSS score 5 of 6) but without body asymmetry or adrenal insufficiency.

Conclusions
In comparison with loss-of-function genomic IGF2 mutations, CDKN1C gain-of-function mutations are a less frequent cause of SRS and seem to affect a cluster of few amino acids.
Efficacy and safety of stem cell therapy for the early-stage osteonecrosis of femoral head: a systematic review and meta-analysis of randomized controlled trials
Authors: Mao Lianghao , Jiang Pan , Lei Xuan , Ni Chenlie , Zhang Yiming , Zhang Bing , Zheng Qiping , Li Dapeng 
Published: October 2020

AbstractBackgroundOsteonecrosis of femoral head (ONFH) is a seriously degenerative disease with no effective therapies to slow its progression. Several studies have reported short-term efficacy of stem cells on early-stage ONFH. However, its long-term effect was still unclear especially on progression events. This study was performed to evaluate the long-term efficacy and safety of stem cells and analyze its optimal age group and cell number.MethodsOur review was registered on PROSPERO (http://www.crd.york.ac.uk/PROSPERO), registration number CRD42020136094. Following PRISMA guideline, we searched 8 electronic databases on January 5, 2020, and rigorous random controlled trials (RCTs) utilizing stem cell therapy on early-stage ONFH were included. Quality and bias were analyzed. Pooled analysis was performed to assess difference between various outcomes.ResultsA total of 13 RCTs (619 patients with 855 hips) were included. The application of stem cells significantly delayed collapse of femoral head(I2, 70%; RR, 0.54; 95% CI, 0.33 to 0.89;P < .00001) and total hip replacement (THR) (I2, 68%; RR, 0.55; 95% CI, 0.34 to 0.90;P = .02) in the long term. It effectively decreased the events of collapse of femoral head (≥ 60 months) (I2, 0%; RR, 0.37; 95% CI, 0.28 to 0.49;P < .00001) and THR (> 36 months) (I2, 0%; RR, 0.32; 95% CI, 0.23 to 0.44;P < .00001). There existed a beneficial effect for patients under 40 (Collapse of femoral head:I2, 56%; RR, 0.41; 95% CI, 0.23 to 0.76;P = .004) (THR:I2, 0%; RR, 0.31; 95% CI, 0.23 to 0.42;P < .00001). In addition, quantity of stem cells at 108magnitude had better effects on disease progression events (I2, 0%; RR, 0.34; 95%CI, 0.16 to 0.74;P = .007). Besides, there were no significant differences on adverse events between the stem cell group and control group (I2, 0%; RR, 0.82; 95% CI, 0.39 to 1.73;P = .60).ConclusionOur findings build solid evidence that stem cell therapy could be expected to have a long-term effect on preventing early-stage ONFH patients from progression events, such as collapse of femoral head and total hip replacement. Furthermore, patients under 40 may be an ideal age group and the optimal cell number could be at 108magnitude for this therapy. Further studies including strict RCTs are required to evaluate a clear effect of stem cells on ideal patient profile and the procedures of implantation.
[11C]PIB amyloid quantification: effect of reference region selection
Authors: Heeman Fiona , Hendriks Janine , Lopes Alves Isadora , Ossenkoppele Rik , Tolboom Nelleke , van Berckel Bart N. M. , Lammertsma Adriaan A. , Yaqub Maqsood ,   on behalf of the AMYPAD Consortium
Published: October 2020

Abstract
Background
The standard reference region (RR) for amyloid-beta (Aβ) PET studies is the cerebellar grey matter (GMCB), while alternative RRs have mostly been utilized without prior validation against the gold standard. This study compared five commonly used RRs to gold standard plasma input-based quantification using the GMCB.

Methods
Thirteen subjects from a test–retest (TRT) study and 30 from a longitudinal study were retrospectively included (total: 17 Alzheimer’s disease, 13 mild cognitive impairment, 13 controls). Dynamic [11C]PiB PET (90 min) and T1-weighted MR scans were co-registered and time–activity curves were extracted for cortical target regions and the following RRs: GMCB, whole cerebellum (WCB), white matter brainstem/pons (WMBS), whole brainstem (WBS) and eroded subcortical white matter (WMES). A two-tissue reversible plasma input model (2T4k_Vb) with GMCB as RR, reference Logan and the simplified reference tissue model were used to derive distribution volume ratios (DVRs), and standardized uptake value (SUV) ratios were calculated for 40–60 min and 60–90 min intervals. Parameter variability was evaluated using TRT scans, and correlations and agreements with the gold standard (DVR from 2T4k_Vb with GMCB RR) were also assessed. Next, longitudinal changes in SUVs (both intervals) were assessed for each RR. Finally, the ability to discriminate between visually Aβ positive and Aβ negative scans was assessed.

Results
All RRs yielded stable TRT performance (max 5.1% variability), with WCB consistently showing lower variability. All approaches were able to discriminate between Aβ positive and Aβ negative scans, with highest effect sizes obtained for GMCB (range − 0.9 to − 0.7), followed by WCB (range − 0.8 to − 0.6). Furthermore, all approaches provided good correlations with the gold standard (r ≥ 0.78), while the highest bias (as assessed by the regression slope) was observed using WMES (range slope 0.52–0.67), followed by WBS (range slope 0.58–0.92) and WMBS (range slope 0.62–0.91). Finally, RR SUVs were stable across a period of 2.6 years for all except WBS and WMBS RRs (60–90 min interval).

Conclusions
GMCB and WCB are considered the best RRs for quantifying amyloid burden using [11C]PiB PET.
New construction of type 2 degenerate central Fubini polynomials with their certain properties
Authors: Sharma Sunil Kumar , Khan Waseem A. , Araci Serkan , Ahmed Sameh S. 
Published: October 2020

AbstractKim et al. (Proc. Jangjeon Math. Soc. 21(4):589–598, 2018) have studied the central Fubini polynomials associated with central factorial numbers of the second kind. Motivated by their work, we introduce degenerate version of the central Fubini polynomials. We show that these polynomials can be represented by the fermionic p-adic integral on $\mathbb{Z}_{p}$

Z
p

. From the fermionic p-adic integral equations, we derive some new properties related to degenerate central factorial numbers of the second kind and degenerate Euler numbers of the second kind.
Protective effects of taurine against muscle damage induced by diquat in 35 days weaned piglets
Authors: Wen Chaoyue , Li Fengna , Guo Qiuping , Zhang Lingyu , Duan Yehui , Wang Wenlong , Li Jianzhong , He Shanping , Chen Wen , Yin Yulong 
Published: October 2020

Abstract
Background
Oxidative stress is a key factor that influences piglets’ health. Taurine plays an imperative role in keeping the biological system from damage. This study was conducted to investigate the protective effect of taurine against muscle injury due to the secondary effect of diquat toxicity.

Results
Our study found that taurine effectively and dose-dependently alleviated the diquat toxicity induced rise of feed/gain, with a concurrent improvement of carcass lean percentage. The plasma content of taurine was considerably increased in a dose-dependent manner. Consequently, dietary taurine efficiently improved the activity of plasma antioxidant enzymes. Furthermore, taurine attenuated muscle damage by restoring mitochondrial micromorphology, suppressing protein degradation and reducing the percentage of apoptotic cells in the skeletal muscle. Taurine supplementation also suppressed the genes expression levels of the antioxidant-, mitochondrial biogenesis-, and muscle atrophy-related genes in the skeletal muscle of piglets with oxidative stress.

Conclusions
These results showed that the dose of 0.60% taurine supplementation in the diet could attenuate skeletal muscle injury induced by diquat toxicity. It is suggested that taurine could be a potential nutritional intervention strategy to improve growth performance.
Compare the epidemiological and clinical features of imported and local COVID-19 cases in Hainan, China
Authors: Wu Biao , Lei Zi-Ying , Wu Kun-Liang , He Jian-Rong , Cao Hui-Juan , Fu Juan , Chen Feng , Chen Yuan , Chen Bao , Zhou Xiao-Li , Huang Tao , Wu Tao , Du Yong-Guo , Chen Suo-Xian , Xiao Fu-Rong , Gao Zhi-Liang , He Jing , Lin Feng , Lin Bing-Liang 
Published: October 2020

Abstract
Background
Effective management of imported cases is an important part of epidemic prevention and control. Hainan Province, China reported 168 coronavirus disease 2019 (COVID-19), including 112 imported cases on February 19, 2020, but successfully contained the epidemic within 1 month. We described the epidemiological and clinical characteristics of COVID-19 in Hainan and compared these features between imported and local cases to provide information for other international epidemic areas.

Methods
We included 91 patients (56 imported and 35 local cases) from two designated hospitals for COVID-19 in Haikou, China, from January 20 to February 19, 2020. Data on the demographic, epidemiological, clinical and laboratory characteristics were extracted from medical records. Patients were followed until April 21, 2020, and the levels of antibodies at the follow-ups were also analysed by the Wilcoxon matched-pairs signed ranks test.

Results
Of the 91 patients, 78 (85.7%) patients were diagnosed within the first three weeks after the first case was identified (Day 1: Jan 22, 2020), while the number of local cases started to increase during the third week. No new cases occurred after Day 29. Fever and cough were two main clinical manifestations. In total, 15 (16.5%) patients were severe, 14 (15.4%) had complicated infections, nine (9.9%) were admitted to the intensive care unit, and three died. The median duration of viral shedding in feces was longer than that in nasopharyngeal swabs (19 days vs 16 days, P = 0.007). Compared with local cases, imported cases were older and had a higher incidence of fever and concurrent infections. There was no difference in outcomes between the two groups. IgG was positive in 92.8% patients (77/83) in the follow-up at week 2 after discharge, while 88.4% patients (38/43) had a reduction in IgG levels in the follow-up at week 4 after discharge, and the median level was lower than that in the follow-up at week 2 (10.95 S/Cut Off (S/CO) vs 15.02 S/CO, P <  0.001).

Conclusion
Imported cases were more severe than local cases but had similar prognoses. The level of IgG antibodies declined from week 6 to week 8 after onset. The short epidemic period in Hainan suggests that the epidemic could be quickly brought under control if proper timely measures were taken.
Making context the central concept in privacy engineering
Authors: Hoel Tore , Chen Weiqin , Pawlowski Jan M. 
Published: October 2020

AbstractThere is a gap between people’s online sharing of personal data and their concerns about privacy. Till now, this gap is addressed by attempting to match individual privacy preferences with service providers’ options for data handling. This approach has ignored the role different contexts play in data sharing. This paper aims at giving privacy engineering a new direction putting context centre stage and exploiting the affordances of machine learning in handling contexts and negotiating data sharing policies. This research is explorative and conceptual, representing the first development cycle of a design science research project in privacy engineering. The paper offers a concise understanding of data privacy as a foundation for design extending the seminal contextual integrity theory of Helen Nissenbaum. This theory started out as a normative theory describing the moral appropriateness of data transfers. In our work, the contextual integrity model is extended to a socio-technical theory that could have practical impact in the era of artificial intelligence. New conceptual constructs such as ‘context trigger’, ‘data sharing policy’ and ‘data sharing smart contract’ are defined, and their application is discussed from an organisational and technical level. The constructs and design are validated through expert interviews; contributions to design science research are discussed, and the paper concludes with presenting a framework for further privacy engineering development cycles.
Co-evolution of port business ecosystem based on evolutionary game theory
Authors: Li Wenjuan , Vanelslander Thierry , Liu Wei , Xu Xu 
Published: October 2020

AbstractAs distributing centres of trade and transportation network, ports play an important role in the development of the national economy. With the changing of the global business environment, the port enterprise operation environment is continuously changing, and growing problems are becoming increasingly complex. Since challenges, uncertainties, risks, and crisis exist side by side, it is indispensable and beneficial to do a systematic analysis of the development of port enterprises from the perspective of biological co-evolution. This paper uses the evolutionary game model to discuss the dynamic change process and evolutionary stable strategy of the collaborative development of the core enterprise and cooperative enterprise in the port business ecosystem. Then, the influencing factors of enterprise decision-making or action selection are analysed, and the numerical model verifies the accuracy of the model. Finally, suggestions on the development of the port business ecosystem are put forward.
NILM-based approach for energy efficiency assessment of household appliances
Authors: Garcia Fernando D. , Souza Wesley A. , Diniz Ivando S. , Marafão Fernando P. 
Published: October 2020

AbstractThis paper presents a novel Non-Intrusive Load Monitoring (NILM) approach focusing on the Energy Efficiency (EE) assessment of residential appliances. This approach (NILMEE) is able to identify the individual consumption of several household devices, providing proper information for evaluating energy efficiency and pointing out the operational issues or labelling mismatches of appliances, while recommending better practices for energy usage in specific consumer installations. The proposed approach was developed and evaluated by embedding the NILM engine on an electronic power meter, which performs a microscopic analysis on measured voltages and currents and provides the load disaggregation using the Conservative Power Theory for the feature extraction, K-Nearest Neighbours for the appliance classification, and the Power Signature Blob for the energy disaggregation. The disaggregation algorithm performance evaluation is carried out using NILMTK. Results show that NILM transcends the regular energy usage calculation, serving as a tool that enables the diagnosis of household appliances using the energy efficiency indexes provided by labels and standards.
Effect of acute citalopram on self-referential emotional processing and social cognition in healthy volunteers
Authors: Hobbs Catherine , Murphy Susannah E. , Wright Lucy , Carson James , Assche Indra Van , O'Brien Jessica , Oyesanya Mayowa , Sui Jie , Munafò Marcus R. , Kessler David , Harmer Catherine J. , Button Katherine S. 
Published: October 2020

Background
Depression is characterised by negative views of the self. Antidepressant treatment may remediate negative self-schema through increasing processing of positive information about the self. Changes in affective processing during social interactions may increase expression of prosocial behaviours, improving interpersonal communications.

Aims
To examine whether acute administration of citalopram is associated with an increase in positive affective learning biases about the self and prosocial behaviour.

Method
Healthy volunteers (n = 41) were randomised to either an acute 20 mg dose of citalopram or matched placebo in a between-subjects double-blind design. Participants completed computer-based cognitive tasks designed to measure referential affective processing, social cognition and expression of prosocial behaviours.

Results
Participants administered citalopram made more cooperative choices than those administered placebo in a prisoner's dilemma task (β = 20%, 95% CI: 2%, 37%). Exploratory analyses indicated that participants administered citalopram showed a positive bias when learning social evaluations about a friend (β = 4.06, 95% CI: 0.88, 7.24), but not about the self or a stranger. Similarly, exploratory analyses found evidence of increased recall of positive words and reduced recall of negative words about others (β = 2.41, 95% CI: 0.89, 3.93), but not the self, in the citalopram group.

Conclusions
Participants administered citalopram showed greater prosocial behaviours, increased positive recall and increased positive learning of social evaluations towards others. The increase in positive affective bias and prosocial behaviours towards others may, at least partially, be a mechanism of antidepressant effect. However, we found no evidence that citalopram influenced self-referential processing.
Dapagliflozin Added to Verinurad Plus Febuxostat Further Reduces Serum Uric Acid in Hyperuricemia: The QUARTZ Study
Authors: Stack Austin G , Han David , Goldwater Ronald , Johansson Susanne , Dronamraju Nalina , Oscarsson Jan , Johnsson Eva , Parkinson Joanna , Erlandsson Fredrik 
Published: October 2020

Abstract

Context
Combining a sodium-glucose cotransporter 2 inhibitor with a xanthine oxidase inhibitor (XOI) and a urate transporter 1 (URAT1) inhibitor may enhance serum uric acid (sUA) lowering. However, concerns exist regarding high urinary UA (uUA) excretion rates and subsequent crystallization in renal tubules.

Objective
To assess whether dapagliflozin added to verinurad, a selective URAT1 inhibitor, and febuxostat, an XOI, increases uUA excretion.

Design
Randomized, placebo-controlled, 2-way crossover study (NCT03316131).

Patients
Adults with asymptomatic hyperuricemia.

Interventions
Subjects (N = 36) were randomized to oral once-daily 9 mg verinurad plus 80 mg febuxostat plus 10 mg dapagliflozin for 7 days and 7 days of oral once-daily 9 mg verinurad plus 80 mg febuxostat plus placebo with an intervening 7- to 21-day washout period.

Main Outcome Measure
Difference in peak uUA excretion between groups from baseline to day 7. Secondary outcomes included changes in sUA levels and 24-h uUA excretion.

Results
Both regimens lowered mean peak uUA excretion (least squares mean changes from baseline: −12.9 mg/h [95% confidence interval (CI): −21.0 to −4.7], dapagliflozin; −13.2 mg/h [95% CI −21.3 to –5.0], placebo). sUA concentrations were lower with dapagliflozin (mean treatment difference –62.3 µmol/L [95% CI −82.8 to −41.8]). Dapagliflozin did not impact verinurad pharmacokinetics, its main metabolites, or febuxostat or fasting plasma glucose levels vs verinurad plus febuxostat. There were no clinically relevant changes in safety parameters.

Conclusions
Dapagliflozin further reduced sUA without influencing uUA excretion, suggesting that its combination with verinurad and febuxostat at the doses tested does not adversely affect kidney function.

Clinical trial registration number
NCT03316131.
An autophagy-dependent tubular lysosomal network synchronizes degradative activity required for muscle remodeling
Authors: Murakawa Tadayoshi , Kiger Amy A. , Sakamaki Yuriko , Fukuda Mitsunori , Fujita Naonobu 
Published: October 2020

ABSTRACT
Lysosomes are compartments for the degradation of both endocytic and autophagic cargoes. The shape of lysosomes changes with cellular degradative demands; however, there is limited knowledge about the mechanisms or significance that underlies distinct lysosomal morphologies. Here, we found an extensive tubular autolysosomal network in Drosophila abdominal muscle remodeling during metamorphosis. The tubular network transiently appeared and exhibited the capacity to degrade autophagic cargoes. The tubular autolysosomal network was uniquely marked by the autophagic SNARE protein Syntaxin17 and its formation depended on both autophagic flux and degradative function, with the exception of the Atg12 and Atg8 ubiquitin-like conjugation systems. Among ATG-deficient mutants, the efficiency of lysosomal tubulation correlated with the phenotypic severity in muscle remodeling. The lumen of the tubular network was continuous and homogeneous across a broad region of the remodeling muscle. Altogether, we revealed that the dynamic expansion of a tubular autolysosomal network synchronizes the abundant degradative activity required for developmentally regulated muscle remodeling.
A Framework for Solving Chance-Constrained Linear Matrix Inequality Programs
Authors: Karimi Roya , Cheng Jianqiang , Lejeune Miguel A. 
Published: October 2020

We propose a novel partial sample average approximation (PSAA) framework to solve the two main types of chance-constrained linear matrix inequality (CCLMI) problems: CCLMI with random technology matrix and CCLMI with random right-hand side. We propose a series of computationally tractable PSAA-based approximations for CCLMI problems, analyze their properties, and derive sufficient conditions that ensure convexity for the two most popular—normal and uniform—continuous distributions. We derive several semidefinite programming PSAA reformulations efficiently solved by off-the-shelf solvers and design a sequential convex approximation method for the PSAA formulations containing bilinear matrix inequalities. The proposed methods can be generalized to other continuous random variables whose cumulative distribution function can be easily computed. We carry out a comprehensive numerical study on three practical CCLMI problems: robust truss topology design, calibration, and robust control. The tests attest to the superiority of the PSAA reformulation and algorithmic framework over the scenario and sample average approximation methods. Summary of Contribution: In line with the mission and scope of IJOC, we study an important type of optimization problems, chance-constrained linear matrix inequality (CCLMI) problems, which require stochastic linear matrix inequality (LMI) constraints to be satisfied with high probability. To solve CCLMI problems, we propose a novel partial sample average approximation (PSAA) framework: (i) develop a series of computationally tractable PSAA-based approximations for CCLMI problems, (ii) analyze their properties, (iii) derive sufficient conditions ensuring convexity, and (iv) design a sequential convex approximation method. We evaluate our proposed method via a comprehensive numerical study on three practical CCLMI problems. The tests attest the superiority of the PSAA reformulation and algorithmic framework over standard benchmarks.