bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
Authors: Chesneau Bertrand , Edouard Thomas , Dulac Yves , Colineaux Hélène , Langeois Maud , Hanna Nadine , Boileau Catherine , Arnaud Pauline , Chassaing Nicolas , Julia Sophie , Jondeau Guillaume , Plancke Aurélie , Khau Van Kien Philippe , Plaisancié Julie 
Published: March 2020

AbstractBackgroundPathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoid dissection and sudden death. These vascular damages are classically associated with premature osteoarthritis and skeletal abnormalities. However, variable expressivity and incomplete penetrance are common with SMAD3 variants.MethodsTo investigate the clinical variability observed within SMAD3 patients, we reviewed the phenotypic and genetic data of 22 new patients from our Centre and of 133 patients reported in the literature. From this cohort of 155 mutated individuals, we first aimed to delineate an estimated frequency of the main clinical signs associated with SMAD3 pathogenic variants and, then, to look for genotype‐phenotype correlations, mainly to see if the aortic phenotype (AP) could be predicted by the SMAD3 variant type.ResultsWe showed, herein, the absence of correlation between the SMAD3 variant type and the occurrence of an AP in patients.ConclusionTherefore, this report brings additional data for the genotype‐phenotype correlations of SMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype.
Novel heterozygous GATA3 and SLC34A3 variants in a 6‐year‐old boy with Barakat syndrome and hypercalciuria
Authors: Yu Sha , Chen Wen‐xia , Lu Wei , Chen Chao , Ni Yihua , Duan Bo , Wang Bin , Wang Huijun , Xu Zheng‐min 
Published: March 2020

AbstractBackgroundBarakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was to identify the underlying genetic cause of a patient who initially presented with renal failure, hypercalciuria, kidney stone, and bilateral sensorineural deafness.MethodsA 6‐year‐old boy with complex clinical presentations was investigated. Comprehensive medical evaluations were performed including auditory function tests, endocrine function tests, metabolic studies, and imaging examinations. Molecular diagnoses were analyzed by trio whole‐exome sequencing.ResultsOne novel de novo deleterious variant (c. 324del) of the GATA3 gene was identified in the patient. The patient can be diagnosed with Barakat syndrome. In addition, one novel variant (c. 589A>G) of the SLC34A3 gene was detected, which was inherited from the father. This heterozygous variant can explain the hypercalciuria and kidney stone that occurred in both the patient and his father.ConclusionThis study provides a special case which is phenotype‐driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient.
Diversity Oriented Preparation of Pillar[5]arene‐Containing [2]Rotaxanes by a Stopper Exchange Strategy
Authors: Nierengarten Iwona , Nierengarten Jean‐François 
Published: March 2020

AbstractRotaxane building blocks bearing 3,5‐bis(trifluoromethyl) benzenesulfonate (BTBS) stoppers have been efficiently prepared from a pillar[5]arene derivative, 3,5‐bis(trifluoromethyl) benzenesulfonyl chloride (BTBSCl) and different diols, namely 1,10‐decanediol and 1,12‐dodecanediol. The BTBS moieties of these compounds are good leaving groups and stopper exchange reactions could be achieved by treatment with different nucleophiles thus affording rotaxanes with ester, thioether or ether stoppers.
Overview of Polyvinyl Alcohol Nanocomposite Hydrogels for Electro‐Skin, Actuator, Supercapacitor and Fuel Cell
Authors: Wen Nan , Jiang Bojun , Wang Xiaojing , Shang Zhifu , Jiang Dawei , Zhang Lu , Sun Caiying , Wu Zijian , Yan Hui , Liu Chuntai , Guo Zhanhu 
Published: March 2020

AbstractThe properties of polyvinyl alcohol (PVA) nanocomposite hydrogels influenced by nanoparticles are reviewed. Various kinds of nanoparticles with excellent mechanical and electrical properties have been introduced into PVA hydrogel to produce stretchable and conductive PVA nanocomposite hydrogel. Understanding the mechanism between the matrix of PVA hydrogel and nanoparticles is therefore critical for the development of PVA nanocomposite hydrogels. This review focuses on the nanoparticles include carbon nanotubes, graphene oxide and metal nanoparticles, and describes the effects of nanoparticles on the mechanical and conductive properties of PVA nanocomposite hydrogels. A new promising area of soft stretchable PVA nanocomposite hydrogel is highlighted for possible applications. Finally, a brief outlook for future research is presented.
Universal properties of Kaluza-Klein gravitons
Authors: Dimmitt Kevin , Larios Gabriel , Ntokos Praxitelis , Varela Oscar 
Published: March 2020

Abstract
Vacua of different gaugings of D = 4 $$ \mathcal{N} $$
N
= 8 supergravity that preserve the same supersymmetries and bosonic symmetry tend to exhibit the same universal mass spectrum within their respective supergravities. For AdS4 vacua in gauged supergravities that arise upon consistent truncation of string/M-theory, we show that this universality is lost at higher Kaluza-Klein levels. However, universality is still maintained in a milder form, at least in the graviton sector: certain sums over a finite number of states remain universal. Further, we derive a mass matrix for Kaluza-Klein gravitons which is valid for all the AdS4 vacua in string/M-theory that uplift from the gaugings of D = 4 $$ \mathcal{N} $$
N
= 8 supergravity that we consider. The mild universality of graviton mass sums is related to the trace of this mass matrix.
Kontinuierliches intraoperatives Neuromonitoring (cIONM) in der Kopf-Hals-Chirurgie – eine Übersicht
Authors: Stankovic P , Wittlinger J. , Georgiew R. , Dominas N. , Hoch S. , Wilhelm T. 
Published: March 2020

ZusammenfassungObwohl die Geschichte des intraoperativen Neuromonitorings (IONM) bereits in das 19. Jahrhundert zurückdatiert werden kann, hat sich diese Methode bis vor Kurzem nicht von der reinen Differenzierung des Nervs weiterentwickelt. Erst das kontinuierliche IONM (cIONM) ermöglichte die durchgehende Analyse der Reizamplituden und -latenzen, welche mittlerweile ebenfalls in die Software gängiger Monitoringsysteme integriert wurde. Zielsetzung des cIONM ist ein Real-Time-Monitoring des Nervenstatus während des Eingriffs, um so drohende Nervenverletzung erkennen und verhindern zu können und die postoperative Funktion des Nervs vorhersehbar zu erhalten. Trotz einiger Nachteile wie falsch-positiver oder -negativer Alarme, technischer Artefakte und seltener Nebenwirkungen bleibt das cIONM ein gutes Hilfsmittel, das noch weiterentwickelt wird. In der Literatur sind sowohl aktive (acIONM) als auch passive (pcIONM) Reiz- und Ableitmethoden des cIONM beschrieben. Derzeit gängige Anwendungsgebiete des cIONM umfassen die Schilddrüsenchirurgie mit der kontinuierlichen Stimulation des N. vagus sowie die Chirurgie des Kleinhirnbrückenwinkels (KHBW) mit dem Monitoring des N. facialis; hierbei werden neben kontinuierlicher Stimulation auch die Entladungsmuster des Nervs analysiert. Des Weiteren ist in die Chirurgie des KHBW das kontinuierliche Monitoring des Hörnervs etabliert.
Global representation of Segre numbers by Monge–Ampère products
Authors: Andersson Mats , Eriksson Dennis , Samuelsson Kalm Håkan , Wulcan Elizabeth , Yger Alain 
Published: March 2020

AbstractOn a reduced analytic spaceXwe introduce the concept of a generalized cycle, which extends the notion of a formal sum of analytic subspaces to include also a form part. We then consider a suitable equivalence relation and corresponding quotient$$\mathcal {B}(X)$$B(X)that we think of as an analogue of the Chow group and a refinement of de Rham cohomology. This group allows us to study both global and local intersection theoretic properties. We provide many$$\mathcal {B}$$B-analogues of classical intersection theoretic constructions: For an analytic subspace$$V\subset X$$V⊂Xwe define a$$\mathcal {B}$$B-Segre class, which is an element of$$\mathcal {B}(X)$$B(X)with support inV. It satisfies a global King formula and, in particular, its multiplicities at each point coincide with the Segre numbers ofV. WhenVis cut out by a section of a vector bundle we interpret this class as a Monge–Ampère-type product. For regular embeddings we construct a$$\mathcal {B}$$B-analogue of the Gysin morphism.
Distribution of Prevalent and Incident Vertebral Fractures and Their Association with Bone Mineral Density in Postmenopausal Women in the Teriparatide Versus Risedronate VERO Clinical Trial
Authors: Geusens Piet , Kendler David L. , Fahrleitner-Pammer Astrid , López-Romero Pedro , Marin Fernando 
Published: March 2020

AbstractVertebral fractures (VFx) occur most frequently in the mid-thoracic and thoraco-lumbar regions, which experience the highest mechanical loading along the spine. The prevalence and incidence of VFx by their location and severity, and their relationship with bone mineral density (BMD), are seldom reported in randomized clinical trial cohorts. The VERO trial randomized 1360 postmenopausal women with at least two moderate or one severe VFx to receive either teriparatide or risedronate for up to 24 months. In this post hoc analysis, we describe the centrally read distribution and severity of prevalent and incident VFx, and the association of their location with the baseline BMD. At baseline, 21.4% of all evaluable vertebral bodies had a prevalent VFx; most commonly at L1, T12, L2 and T11 (38.5%, 37.4%, 25.3% and 23.5% of patients, respectively). Patients with prevalent VFx only at T12/L1 showed a higher baseline BMD compared to patients with VFx at other levels. At month 24, 100 patients had 126 incident VFx (teriparatide: 35; risedronate: 91). The most frequent incident VFx occurred at T12 (n = 17, 1.6% of patients), followed by L1 and T11 (n = 14, 1.3% both). The frequency of incident VFx was lower at all vertebral levels in patients given teriparatide. These results confirm prior reports that VFx occurs more frequently at mid-thoracic and thoraco-lumbar regions of the spine. Patients with these VFx locations have higher BMD than those who fracture at other sites, suggesting a role for mechanical stress in the etiology of VFx. Teriparatide is superior to risedronate in the prevention of VFx at these common fracture locations.Trial registration ClinicalTrials.gov Identifier: NCT01709110
Role of the autophagy-related marker LC3 expression in hepatocellular carcinoma: a meta-analysis
Authors: Meng Yu-Chen , Lou Xiao-Li , Yang Li-Yuan , Li Dong , Hou Yan-Qiang 
Published: March 2020

Abstract
Background
Microtubule-associated protein 1 light chain 3 (LC3), an autophagic gene, has been reported as a vital marker for many diseases and cancers. However, the role of LC3 in hepatocellular carcinoma (HCC) was not still investigated. Therefore, we conducted a meta-analysis to examine the association of LC3 with its clinicopathological and prognostic in HCC.

Methods
We consulted the PubMed, Cochrane Library, Web of Science, EMBASE, China National Knowledge Infrastructure and Wan Fang databases for published studies on LC3 in HCC. Newcastle–Ottawa scale was used to screen the quality of the literature. The statistical analysis was calculated by STATA 14.2.

Results
Of the 1329 titles identified, 10 articles involving 949 patients in HCC were included in this meta-analysis. The results of our study show that increased LC3 expression is related to size of tumor, but not to gender, age, number of tumor, liver cirrhosis, HBsAg, TNM stage, alpha fetoprotein, vascular invasion and histological grade. Positive LC3 expression was associated with overall survival by pooled hazard ratio.

Conclusions
This meta-analysis indicated that positive LC3 expression was related to size of tumor, and could predict prognosis in human hepatocellular carcinoma.
Regulation of LCoR and RIP140 expression in cervical intraepithelial neoplasia and correlation with CIN progression and dedifferentiation
Authors: Vogelsang Tilman L. R. , Schmoeckel Elisa , Kuhn Christina , Blankenstein Thomas , Temelkov Mina , Heidegger Helene , Kolben Theresa Maria , Kolben Thomas , Mahner Sven , Mayr Doris , Jeschke Udo , Vattai Aurelia 
Published: March 2020

Abstract
Purpose
Ligand-dependent corepressor (LCoR) and receptor-interacting protein 140 (RIP140/NRIP1) play an important role in the regulation of multiple oncogenic signaling pathways and the development of cancer. LCoR and RIP140 form a nuclear complex in breast cancer cells and are of prognostic value in further prostate and cervical cancer. The purpose of this study was to analyze the regulation of these proteins in the development of cervical intraepithelial neoplasia (CIN I–III).

Methods
Immunohistochemical analysis was obtained to quantify RIP140 and LCoR expression in formalin-fixed paraffin embedded tissue sections of cervical intraepithelial neoplasia samples. Tissue (n = 94) was collected from patients treated in the Department of Gynecology and Obstetrics, Ludwig-Maximilians-University of Munich, Germany, between 2002 and 2014. Correlations of expression levels with clinical outcome were carried out to assess for prognostic relevance in patients with CIN2 progression. Kruskal–Wallis test and Mann–Whitney U test were used for data analysis.

Results
Nuclear LCoR overexpression correlates significantly with CIN II progression. Nuclear RIP140 expression significantly increases and nuclear LCoR expression decreases with higher grading of cervical intraepithelial neoplasia. Cytoplasmic RIP140 expression is significantly higher in CIN III than in CIN I or CIN II.

Conclusion
A decrease of nuclear LCoR expression in line with an increase of dedifferentiation of CIN can be observed. Nuclear LCoR overexpression correlates with CIN II progression indicating a prognostic value of LCoR in cervical intraepithelial neoplasia. Nuclear and cytoplasmic RIP140 expression increases significantly with higher grading of cervical intraepithelial neoplasia underlining its potential role in the development of pre-cancerous lesions. These findings support the relevance of LCoR and RIP140 in the tumorigenesis indicating a possible role of LCoR and RIP140 as targets for novel therapeutic approaches in cervical intraepithelial neoplasia and cervical cancer.
A dual perspective on first-session therapeutic alliance: strong predictor of youth mental health and addiction treatment outcome
Authors: van Benthem Patty , Spijkerman Renske , Blanken Peter , Kleinjan Marloes , Vermeiren Robert R. J. M. , Hendriks Vincent M. 
Published: March 2020

AbstractWe investigated the potential role of first-session therapeutic alliance ratings to serve as an early marker of treatment outcome in youth mental health and addiction treatment. The present study is among the first to incorporate both a youths’ and a therapists’ perspective of the therapeutic alliance in order to maximize predictive value of the alliance for treatment outcome. One hundred and twenty-seven adolescents participated in a multi-site prospective naturalistic clinical cohort study, with assessments at baseline and at 4 months post-baseline. Main outcome measure was favorable or unfavorable treatment outcome status at 4-month follow-up. Early therapeutic alliance had a medium and robust association with treatment outcome for youth’ (b = 1.29) and therapist’ (b = 1.12) perspectives and treatment setting. Based on the two alliance perspectives four subgroups were distinguished. Incorporating the alliance-ratings from both perspectives provided a stronger predictor of treatment outcome than using one perspective. Youth with a strong alliance according to both perspectives had an eightfold odds of favorable treatment outcome compared with youth with a weak alliance according to both perspectives. The association between therapeutic alliance and treatment outcome in youth mental health and addiction treatment may be substantially stronger than earlier assumed when both a youths’ and therapists’ perspective on alliance is considered.
Task load modulates tDCS effects on brain network for phonological processing
Authors: Rodrigues de Almeida Lílian , Pope Paul A. , Hansen Peter C. 
Published: March 2020

AbstractMotor participation in phonological processing can be modulated by task nature across the speech perception to speech production range. The pars opercularis of the left inferior frontal gyrus (LIFG) would be increasingly active across this range, because of changing motor demands. Here, we investigated with simultaneous tDCS and fMRI whether the task load modulation of tDCS effects translates into predictable patterns of functional connectivity. Findings were analysed under the “multi-node framework”, according to which task load and the network structure underlying cognitive functions are modulators of tDCS effects. In a within-subject study, participants (N = 20) performed categorical perception, lexical decision and word naming tasks [which differentially recruit the target of stimulation (LIFG)], which were repeatedly administered in three tDCS sessions (anodal, cathodal and sham). The LIFG, left superior temporal gyrus and their right homologues formed the target network subserving phonological processing. C-tDCS inhibition and A-tDCS excitation should increase with task load. Correspondingly, the larger the task load, the larger the relevance of the target for the task and smaller the room for compensation of C-tDCS inhibition by less relevant nodes. Functional connectivity analyses were performed with partial correlations, and network compensation globally inferred by comparing the relative number of significant connections each condition induced relative to sham. Overall, simultaneous tDCS and fMRI was adequate to show that motor participation in phonological processing is modulated by task nature. Network responses induced by C-tDCS across phonological processing tasks matched predictions. A-tDCS effects were attributed to optimisation of network efficiency.
Das Auslandspraktikum im Studium der Sozialen Arbeit aus übergangstheoretischer Perspektive
Authors: Haßler Hannah Juliane 
Published: March 2020

ZusammenfassungDas Erkenntnisinteresse des hier vorgestellten Dissertationsprojektes liegt in der Analyse der subjektiven Erfahrungsräume von Studierenden der Sozialen Arbeit im Auslandspraktikum. Diese werden aus berufsbiographischer und übergangstheoretischer Perspektive erfasst und rekonstruiert. Ziel ist es, den doppelten Übergangsraum (Praktikum und Ausland), den Studierende der Sozialen Arbeit im Auslandspraktikum erleben, im Hinblick auf private und ausbildungsbezogene Erfahrungsräume, Bewältigungsstrategien und der Entdeckung von neuen oder anderen Perspektiven zu untersuchen. Damit versucht diese Studie die Forschungslücke bezüglich der biographischen Bedeutung eines Auslandspraktikums für Studierende der Sozialen Arbeit zu schließen. Die Datenerhebung erfolgt im Rahmen narrativer Interviews mit ehemaligen Auslandspraktikant*innen aus dem gesamten Bundesgebiet. Aus den gewonnenen Erkenntnissen werden Empfehlungen für die Gestaltung zukünftiger Auslandspraktika sowie die Integration einer Internationalisierung in das Studium der Sozialen Arbeit erstellt.
Defining the role of the public in Health Technology Assessment (HTA) and HTA-informed decision-making processes
Authors: Street Jackie , Stafinski Tania , Lopes Edilene , Menon Devidas 
Published: March 2020

ObjectivesThe terminology used to describe community participation in Health Technology Assessment (HTA) is contested and frequently confusing. The terms patients, consumers, public, lay members, customers, users, citizens, and others have been variously used, sometimes interchangeably. Clarity in the use of terms and goals for including the different groups is needed to mitigate existing inconsistencies in the application of patient and public involvement (PPI) across HTA processes around the world.MethodsWe drew from a range of literature sources in order to conceptualize (i) an operational definition for the “public” and other stakeholders in the context of HTA and (ii) possible goals for their involvement. Draft definitions were tested and refined in an iterative consensus-building process with stakeholders from around the world.ResultsThe goals, terminology, interests, and roles for PPI in HTA processes were clarified. The research provides rationales for why the role of the public should be distinguished from that of patients, their families, and caregivers. A definition for the public in the context of HTA was developed: A community member who holds the public interest and has no commercial, personal, or professional interest in the HTA processConclusionsThere are two distinct aspects to the interests held by the public which should be explicitly included in the HTA process: the first lies in ensuring democratic accountability and the second in recognising the importance of including public values in decision making.
Reconsidering perfect: a qualitative study of the experiences of internet-based cognitive behaviour therapy for perfectionism
Authors: Rozental Alexander , Kothari Radha , Wade Tracey , Egan Sarah , Andersson Gerhard , Carlbring Per , Shafran Roz 
Published: March 2020

AbstractBackground:Internet-based cognitive behaviour therapy (ICBT) is a promising format for treating different psychiatric disorders. In addition, several clinical trials have found positive results when using it to target transdiagnostic processes, such as perfectionism. However, few qualitative investigations have been conducted on the experiences of clients undergoing such treatments.Method:In the current study, clients completing 12-week guided ICBT for perfectionism responded to open-ended questions at post-treatment. In total, 30 out of 62 (48.4%) described their impressions of its content and the support provided by their guide.Results:The results were analysed qualitatively using thematic analysis. Five themes were found in the responses: Learning how to do things differently, Noticing the positives, Feeling safe to be honest, A comfortable treatment format and Barriers to treatment.Conclusions:The results suggest that many clients were able to achieve a change in perspective in relation to their perfectionism and started facing their fears. They were also able to report the benefits of doing things differently as part of treatment, such as an improvement in their interpersonal relationships. Most clients were also positive about the treatment format, enjoying its flexibility and the encouragement offered by their therapist. However, obstacles such as conflicting commitments, personal difficulties, time-consuming and comprehensive treatment modules, and a desire for more support were brought up by some, suggesting that there are aspects that could be considered in the future.