bluuebunny/crossref_metadata_2025_split huggingface dataset:
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
Authors: Akiyama M. 
Published: May 2021

AbstractIsolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare hereditary hair disease characterized by tightly curled sparse hair at birth or in early infancy. Patients with ARWH consist of genetically heterogeneous groups. Woolly hair autosomal recessive 1 (ARWH1) (MIM #278150), woolly hair autosomal recessive 2 (ARWH2) (MIM #604379) and woolly hair autosomal recessive 3 (ARWH3) (MIM #616760) are caused by mutations in LPAR6, LIPH and KRT25, respectively. In addition, nonsense variants in C3ORF52 (*611956) were identified in ARWH patients. The frequencies of the mutations in the causative genes in ARWH patients are thought to differ by ethnicity and country/geographical area. Large numbers of ARWH families with LIPH mutations have been described only in populations from Japan, Pakistan and the Volga–Ural region of Russia. In that region of Russia, most ARWH families have an extremely prevalent founder mutation, the deletion of exon 4, in LIPH. In the Pakistani population, 47.2% of ARWH families had the disease due to LIPH mutations and 52.8% of them carried LPAR6 mutations. The prevalent, recurrent LIPH mutation c.659_660delTA (p.Ile220Argfs*29) was found in more than half of Pakistani ARWH families with LIPH mutations. Most Japanese ARWH families (98.7%) harbour LIPH mutations, including the two highly prevalent, recurrent LIPH mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn). In ARWH patients whose disease was due to LIPH, LPAR6 or C3ORF52 mutations, the loss of function of LIPH, LPAR6 or C3ORF52 leads to reduced LIPH‐LPA‐LPAR6 signalling, resulting in the decreased transactivation of EGFR signalling and the phenotype of underdeveloped hairs. Our recent prospective interventional study suggests that topical minoxidil might be a promising treatment for ARWH due to LIPH mutations, although sufficiently effective treatments have not been established for ARWH yet.
Product selection in online marketplaces
Authors: Etro Federico 
Published: May 2021

AbstractA marketplace such as Amazon hosts many products by third party sellers and acts as a first party or private label retailer. Assuming an advantage of Amazon in logistics and of sellers in marketing, we investigate whether entry by Amazon is excessive from the point of view of consumers. With competitive sellers, entry may be either overprovided or underprovided, but the incentives of Amazon and consumers are correctly aligned for a family of power surplus functions (generating for instance linear, isoelastic, and loglinear demands). Competition for customers with other retailers reduces commissions and prices preserving the efficiency result. Market power by sellers increases (reduces) the incentives to retail private label (first party) products, and generates a bias toward underprovision of entry. We extend the analysis to delivery fulfillment by the marketplace, product differentiation with price competition on the platform, and a dynamic analysis of the incentives of sellers to enter and the marketplace to launch copycat products.
Physician survey regarding updated PCV13 vaccine recommendations for adults ≥65 years
Authors: Hurley Laura P. , O'Leary Sean T. , Kobayashi Miwako , Crane Lori A. , Cataldi Jessica , Brtnikova Michaela , Beaty Brenda L. , Gorman Carol , Lindley Megan C. , Kempe Allison 
Published: May 2021

AbstractBackgroundIn June 2019, the Advisory Committee on Immunization Practices recommended discontinuing the routine use of the pneumococcal conjugate vaccine (PCV13) among adults aged ≥65 years and instead recommended PCV13 be used based on shared clinical decision making (SCDM).ObjectivesWe wanted to assess among primary care physicians (1) knowledge and attitudes regarding the new SCDM PCV13 recommendation and (2) how the new recommendation will affect their likelihood of recommending PCV13 to adults aged ≥65 years.DesignThis was done by mail and internet‐based survey, which was conducted October 2019 through January 2020. The study was carried out on a nationally representative sample of general internists (GIMs) and family physicians (FPs).ResultsThe response rate was 64% (617/968, GIM 57%, FP 71%). Only 41% of respondents were aware of the SCDM PCV13 recommendation in adults aged ≥65 years; 76% agreed (37% “Strongly,” 39% “Somewhat”) that their patients aged ≥65 years will get confused by having a SCDM recommendation for PCV13 and a routine recommendation for the pneumococcal polysaccharide vaccine (PPSV23); 60% agreed (18% “Strongly,” 42% “Somewhat”) that they were unsure of what points to emphasize when having a SCDM conversation with an adult aged ≥65 years about receiving PCV13. Just over 50% reported they would be less likely to recommend PCV13 for adults aged ≥65 years as a result of the new recommendation, but 42% reported that their recommendation for PCV13 would not change.ConclusionsWord of the new ACIP recommendation for PCV13 for adults aged ≥65 years needs to be further disseminated. Investigation into why some physicians do not plan to change their recommendations is warranted.
Social cognition and executive functioning in multiple sclerosis: A cluster‐analytic approach
Authors: Henry Audrey , Lannoy Séverine , Chaunu Marie‐Pierre , Tourbah Ayman , Montreuil Michèle 
Published: May 2021

Multiple sclerosis (MS) is associated with deficits in social cognition, the process underlying social interaction and cognitive function. However, the relationships between executive impairment and social cognition remain unclear in MS. Previous studies exclusively focused on group comparisons between healthy controls and patients with MS, treating the latter as a homogeneous population. The variability of socio‐ and neurocognitive profiles in this pathology therefore remains underexplored. In the present study, we used a cluster analytic approach to explore the heterogeneity of executive and social cognition skills in MS. A total of 106 patients with MS were compared with 53 healthy matched controls on executive (e.g., working memory) and social cognition (facial emotion recognition and theory of mind) performances. A cluster analysis was then performed, focusing on the MS sample, to explore the presence of differential patterns of interaction between executive and social cognition difficulties and their links to sociodemographic, clinical and cognitive variables. We identified three distinct functional profiles: patients with no executive or social cognition deficits (Cluster 1); patients with difficulties in facial emotion recognition and theory of mind and, to a lesser extent, executive functioning (Cluster 2); and patients with executive functioning difficulties only (Cluster 3). Clinical characteristics (disease duration, disability, fatigue) did not differ between clusters.ConclusionsThese results suggest that there are qualitative differences in the social cognition and executive difficulties that are commonly found among patients with MS. If replicated, the identification of these profiles in clinical practice could allow for more individualized rehabilitation.
Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH
Authors: Aruta Francesco , Severi Daniele , Iovino Aniello , Spina Emanuele , Barghigiani Melissa , Ruggiero Lucia , Iodice Rosa , Santorelli Filippo Maria , Manganelli Fiore , Tozza Stefano 
Published: May 2021

AbstractCharcot‐Marie‐Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain (NEFH) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH. In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory‐motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.
Digitally Fabricated Removable Complete Denture Clinical Workflows using Additive Manufacturing Techniques
Authors: Wagner Stephen A. , Kreyer Robert 
Published: May 2021

AbstractThe use of computer aided design and computer aided manufacturing in the fabrication of complete removable dentures has demonstrated that the prostheses produced are superior in many ways to removable dentures produced using analog techniques. A variety of clinical workflows that take advantage of digital technology have been shown to shorten the number of appointments required to produce high quality prostheses. This paper presents an overview of additive manufacturing in contemporary removable complete denture workflows and describes effective three appointment clinical techniques using additive manufacturing to produce a clinical trial denture and definitive prosthesis.
Public investment criteria under optimal nonlinear income taxation without commitment
Authors: Morita Shigeo , Obara Takuya 
Published: May 2021

AbstractIn this study, we highlight that the incredibility of the government's commitment to a certain tax policy is a determinant of production inefficiency. We show that if the government cannot commit to a certain tax policy and if the types of taxpayers are completely separated, then the production efficiency theorem could be violated in an optimal solution. In this case, an incremental unit of public or private capital affects taxpayers' labor supply through wage rates. In a situation where public capital is more (less) complementary to labor than private capital, public investment tightens (relaxes) the incentive compatibility constraint more than private investment.
Outcomes, complications and risk factors following fluoroscopically guided transcondylar screw placement for humeral intracondylar fissure
Authors: Carwardine D. , Burton N. J. , Knowles T. G. , Barthelemy N. , Parsons K. J. 
Published: May 2021

ObjectivesTo describe the surgical technique and complications for fluoroscopically guided transcondylar screw placement for humeral intracondylar fissure in dogs.Materials and MethodsA retrospective review was undertaken of cases from two hospitals where identical surgical technique was employed. Factors were analysed for any association with postoperative complications.ResultsSixty‐two dogs (82 elbows) were reviewed for which the postoperative complication rate was 45%; a total of 15% of cases required revision surgery. Complications were more likely in cases operated on earlier in the case series and with increasing dog bodyweight. Both increasing surgical time and being a neutered female were protective against postoperative complications.Clinical SignificanceFluoroscopically guided transcondylar screw placement for humeral intracondylar fissure is associated with a high postoperative complication rate (45%) with 15% of cases requiring revision surgery.
Leveraging water, sanitation and hygiene for nutrition in low‐ and middle‐income countries: A conceptual framework
Authors: Zavala Eleonor , King Shannon E. , Sawadogo‐Lewis Talata , Roberton Timothy 
Published: May 2021

AbstractIn low‐ and middle‐income countries (LMICs), access to water, sanitation and hygiene (WASH) is associated with nutritional status including stunting, which affects 144 million children under 5 globally. Despite the consistent epidemiological association between WASH indicators and nutritional status, the provision of WASH interventions alone has not been found to improve child growth in recent randomized control trials. We conducted a literature review to develop a new conceptual framework that highlights what is known about the WASH to nutrition pathways, the limitations of certain interventions and how future WASH could be leveraged to benefit nutritional status in populations. This new conceptual framework will provide policy makers, program implementors and researchers with a visual tool to bring into perspective multiple levels of WASH and how it may effectively influence nutrition while identifying existing gaps in implementation and research.
Putting self‐regulated learning in context: Integrating self‐, co‐, and socially shared regulation of learning
Authors: Bransen Derk , Govaerts Marjan J. B. , Panadero Ernesto , Sluijsmans Dominique M. A. , Driessen Erik W. 
Published: May 2021

AbstractProcesses involved in the regulation of learning have been researched for decades, because of its impact on academic and workplace performance. In fact, self‐regulated learning is the focus of countless studies in health professions education and higher education in general. While we will always need competent individuals who are able to regulate their own learning, developments in healthcare require a shift from a focus on the individual to the collective: collaboration within and between healthcare teams is at the heart of high‐quality patient care. Concepts of collaborative learning and collective competence challenge commonly held conceptualisations of regulatory learning and call for a focus on the social embeddedness of regulatory learning and processes regulating the learning of the collective. Therefore, this article questions the alignment of current conceptualisations of regulation of learning with demands for collaboration in current healthcare. We explore different conceptualisations of regulation of learning (self‐, co‐, and socially shared regulation of learning), and elaborate on how the integration of these conceptualisations adds to our understanding of regulatory learning in healthcare settings. Building on these insights, we furthermore suggest ways forward for research and educational practice.
CO2‐responsive CCT protein interacts with 14‐3‐3 proteins and controls the expression of starch synthesis–related genes
Authors: Fukayama Hiroshi , Miyagawa Fumihiro , Shibatani Naoki , Koudou Aiko , Sasayama Daisuke , Hatanaka Tomoko , Azuma Tetsushi , Yamauchi Yasuo , Matsuoka Daisuke , Morita Ryutaro 
Published: May 2021

AbstractCO2‐responsive CCT protein (CRCT) is a positive regulator of starch synthesis–related genes such as ADP‐glucose pyrophosphorylase large subunit 1 and starch branching enzyme I particularly in the leaf sheath of rice (Oryza sativa L.). The promoter GUS analysis revealed that CRCT expressed exclusively in the vascular bundle, whereas starch synthesis–related genes were expressed in different sites such as mesophyll cell and starch storage parenchyma cell. However, the chromatin immunoprecipitation (ChIP) using a FLAG‐CRCT overexpression line and subsequent qPCR analyses showed that the 5′‐flanking regions of these starch synthesis–related genes tended to be enriched by ChIP, suggesting that CRCT can bind to the promoter regions of these genes. The monomer of CRCT is 34.2 kDa; however, CRCT was detected at 270 kDa via gel filtration chromatography, suggesting that CRCT forms a complex in vivo. Immunoprecipitation and subsequent MS analysis pulled down several 14‐3‐3‐like proteins. A yeast two‐hybrid analysis and bimolecular fluorescence complementation assays confirmed the interaction between CRCT and 14‐3‐3‐like proteins. Although there is an inconsistency in the place of expression, this study provides important findings regarding the molecular function of CRCT to control the expression of key starch synthesis–related genes.
Collecting truths: A paradox in two guises
Authors: Updike Eric 
Published: May 2021

AbstractTwo proofs are given which show that if some set of truths fall under finitely many concepts (so‐called ), then they all fall under at least one of them even if we do not know which one. Examples are given in which the result seems paradoxical. The first proof crucially involves Moorean propositions while the second is a reconstruction and generalization of a proof due to Humberstone free from any reference to such propositions. We survey a few solution routes including Tennant‐style restriction strategies. It is concluded that accepting for some set of truths while also denying that any of the involved concepts in isolation capture all of them requires that one of these concepts cannot be closed under conjunction elimination. This is surprising since the paper surveys several applications in which and the latter closure condition seemed jointly satisfiable for concepts of actual philosophical interest.
Study on spore release of Polytrichum commune Hedw. var. commune by synergetic effects of sub‐hygroscopic movement and wind
Authors: Zhang Z. Q. , Min H. X. , Wang Z. H. , Zhang Z. H. 
Published: May 2021

Abstract

The effect of humidity change on spore release of the Nematodontae Polytrichaceae has never been tested experimentally. Similarly, the impact of humidity alterations on structure of the peristome have never been studied.

Polytrichum commune Hedw. var. commune from Guizhou Province, China, was selected as the research object to examine effects of simulated wind in the laboratory. By controlling humidity and wind, the mechanism of spore dispersal was revealed.

When humidity increased, the size of the peristome and epiphragm enlarged significantly (the peristome has no obvious spatial displacement, unlike the hygroscopic movement of Arthrodontae mosses. Thus, we named it ‘sub‐hygroscopic movement’), then recovered to normal size when humidity decreased. When humidity was controlled and wind applied, the scattering of spores gradually decreased as the capsule dried out and finally reached a very low level; when the capsule was wetted or rewetted, the amount of spores released rose and returned to the initial state. Through comparison of moist and dry capsules, only enhanced humidity of the sporophytes led to increases in spore release.

The results show that the dispersal of spores was significantly improved in windy conditions and the sub‐hygroscopic movement of the capsule peristome, which ensure the continuity and effectiveness of P. commune reproduction.
Is Sjogren's syndrome a risk factor/contraindication for dental implants? An umbrella review
Authors: Barros Ana Waleska Pessôa , Sales Pedro Henrique da Hora , Carvalho Alessandra de Albuquerque Tavares , Patel Preeyan , Porter Stephen , Leão Jair Carneiro 
Published: May 2021

AbstractIntroductionThere have been concerns that longstanding oral dryness secondary to Sjogren's syndrome may increase the risk of failure of dental implants.AimsThe aim of the present study was to determine the level of methodological quality of systematic reviews that evaluated the effectiveness of dental implants in patients diagnosed with Sjogren's syndrome.Methods and resultsDatabases of PubMed/Medline, LILACS, Science Direct and Dare Cochrane to October 2020 were evaluated. A total of 833 articles were initially identified but following use of appropriate inclusion and exclusion criteria 4 papers were identified for detailed analysis. An eventual study sample comprised 722 implants placed in 189 patients with a 95.22% success rate, the minimum follow‐up time was 45.2 ± 23.8 months and the maximum 125.5 months. The studies were assessed for their methodological quality by the AMSTAR 2 tool, in which 3 had critically low quality and one low quality.ConclusionOral rehabilitation with dental implants in patients with Sjogren's syndrome seems to have a high success rate; however, the low quality of relevant reports highlights the need for primary and secondary studies with better methodological design in order to reduce bias and provide reassurance for this treatment option.
Facing an unexpected reality – oscillating between health and suffering 4–6 years after bariatric surgery
Authors: Lindberg Susan , Wennström Berith , Larsson Anna‐Karin 
Published: May 2021

AbstractBackgroundObesity is a significant public health problem that is on the increase worldwide, and treatment with bariatric surgery is becoming more and more common. This type of surgery has proved to be good for weight reduction and for preventing complications, but few studies have investigated patients’ long‐term experiences of health and suffering.AimTo explore people's experiences of health after bariatric surgery. What are their thoughts about their life, body and sexuality?MethodsThis study is based on semi‐structured interviews with eight women and eight men, 4–6 years after bariatric surgery. The data were analysed using qualitative content analysis and resulted in 5 main themes and 14 subthemes.ResultsThe new body enabled a healthy life due to better treatment in society, enhanced self‐esteem, the pleasure of purchasing clothes and the courage to become more sexually active. At the same time, the body could be experienced as so unfamiliar that their life was dominated by despondency, a lack of freedom and a feeling of being lost, which made them wish to return to their old body.Conclusion and implicationsThe participants received extensive information before as well as follow‐up conversations up to one year after surgery. Nevertheless, they all experienced that changing from life as an obese person to a radically reduced body often meant a confrontation with an unexpected reality that oscillated between health and suffering. This indicates that preparedness for the life changes that bariatric surgery may entail is inadequate and that moving towards health and suffering takes its own time.Therefore, more time should be allocated to talking about how life is and can become in the long term, which may facilitate a dialogical, person‐centred approach to the setbacks and situations each person needs to manage in order to improve her/his health.
The next generation: Nationalism and violence in the narratives of Serbian students on the break‐up of Yugoslavia
Authors: Jovanović Rodoljub , Bermúdez Ángela 
Published: May 2021

AbstractTwenty years after the end of the violent break‐up of Yugoslavia, new generations of young people in Serbia are living with its legacies. Despite the socio‐psychological implications of violent conflict in post‐conflict societies being well established in the literature, there are still only a few studies which focus on young Serbians’ meaning‐making in relation to the recent wars. The present study focuses on how a group of young Serbians, born after the violence was over, understands the violent break‐up of Yugoslavia. The article presents the analysis of interviews and group discussions with 31 first‐year university students in Serbia about these events. The goal of the analysis is to determine a) whether participants’ narratives contain identifiable themes of a collective memory of conflict and b) whether participants normalize past violence through narrative. The relationship between the two as well as the relationship between history textbooks and participants’ narratives will be discussed. Finally, the findings are discussed in regard to how participants’ understandings of past violence might shape their political positioning in relation to nationalism.
Protection by whom, for whom? Muslim refugee women facing a contested European identity
Authors: Golesorkhi Lara‐Zuzan 
Published: May 2021

AbstractThe protection of the ‘European way of life’ has come at the expense of protecting the human rights of migrants. This trade‐off has occurred at border crossings and in host countries, and has left third‐country nationals, including Muslim refugee women, in grey areas of protection. How can we explain these limited protections across the EU? I argue that the limited protections of Muslim refugee women can be explained through a combination of the EU’s fragmented non‐discrimination framework and surging nationalist dynamics. By using Germany as my case study and by drawing on ethnographic research, I propose that Muslim refugee women have been securitized through three distinct but connected ‘threat logics’: refugees as threat, Muslims and Islam as threat, and Muslim women as threat. All three threat logics have been employed by nationalist and right‐wing groups to simultaneously target migration and Islam qua Muslim refugee women.