bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Authors: Xu Yufei , Chen Yulin , Li Niu , Hu Xuyun , Li Guoqiang , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian 
Published: January 2018

Abstract

Background:
Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1.

Case presentation:
Clinical data were collected from the subject and analyzed. Next generation sequencing of the immediate family pedigree using peripheral blood genomic DNA was performed, and the relevant mutations were verified with Sanger sequencing. We describe the case of a 5-year-old patient with DSD, presenting with a lateral inguinal hernia accompanied by abnormal hormone tests. The genetic analysis revealed novel compound heterozygous variants in the LHCGR gene, including a splice site mutation (c.681-1 G>A) and a frameshift variant (c.1582_1585del ATAT, p.Ile528*).

Conclusions:
We identified novel compound heterozygous variants in the LHCGR gene, and expanded the genotype-phenotype correlation spectrum of LHCGR variants.
Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
Authors: Yildiz Melek , Akcay Teoman , Aydin Banu , Akgun Abdurrahman , Dogan Beyza Belde , De Franco Elisa , Ellard Sian , Onal Hasan 
Published: January 2018

Abstract

Background:
As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients.

Case presentation:
A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a KATP channel mutation. However, this empiric sulfonylurea trial did not improve the patient’s glycemic control and resulted in resistance to exogenous insulin. Genetic testing identified a previously reported homozygous INS promoter mutation (c.-331C>G), which was not responsive to sulfonylurea therapy.

Conclusions:
In light of our results, we recommend to confirm the genetic diagnosis as soon as possible and decide on sulfonylurea treatment after a genetic diagnosis is confirmed.
If Embryos and Fetuses Have Rights
Authors: GoodwIn Michele 
Published: January 2018

Abstract
What exactly does it mean to be human or for that matter a
“non-human”? This essay unpacks questions regarding the personhood
of embryos and fetuses. It takes as its lead the escalating political demand for
embryos to attain rights and the status of children. The essay argues that such
political demands are not in isolation physically, medically, or legally of
women’s health and rights. It makes the case that embryos and fetuses
cannot be granted rights without impermissibly implicating pregnant women. Thus,
the essay argues against the extension of criminal and tort law to punish
pregnant women under fetal protection laws by drawing an analogy to the duty to
rescue jurisprudence.
CRISPR Creations and Human Rights
Authors: Riley Margaret Foster 
Published: January 2018

Abstract
When the Universal Declaration of Human Rights was adopted in 1948, the
definition of human was uncontroversial. It included all
members of homo sapiens regardless of gender, ethnicity, race
or religion and it did not include animals. In the decades since then,
who—or what—should be included in that definition has become less
clear. Recently some scholars have argued that some animals should be accorded
human rights of liberty and equality. This paper considers what characteristics
and qualities should be required for a bearer of human rights. To do that, the
paper examines beings who might occupy the space between animals and
homo sapiens—a de-extincted Neanderthal or a
“humanzee,”—both of which are at least theoretically
possible with new technology. It concludes that the cognitive and moral
abilities to be both a beneficiary and a contributor to a human polity is a
central part of being a bearer of human rights in this context. It determines
that a humanzee, and possibly a de-extincted Neanderthal, might have those
capabilities. The best way to respect such human rights in those beings would be
not to create them.
The Rights of Non-Humans: From Animals to Silent Nature
Authors: Ezra Ovadia 
Published: January 2018

Abstract
During the last few decades, there have emerged organizations, as well as
theorists, that demand our respect for and acknowledgement of animal rights. The
comprehensive meaning of such a claim is virtually a demand to extend the
boundaries of morality, its range of applicability, and its validity, beyond
human beings alone. This Article intends to continue this tendency and suggests
another breakthrough in mankind’s moral attitude, this time towards
silent nature. I argue that in the same manner that we make non-anthropocentric
moral considerations with regard to animals as living creatures, we should
expand our concern toward silent nature, too.
Beyond Natural Potentiality: Brain-Death Pregnancy, Viable Fetuses, and Pre-implanted Embryos
Authors: Lavi Shai J. 
Published: January 2018

Abstract
Potentiality plays an important role in bioethical debates concerning embryos and
fetuses. In these debates, “conservatives” tend to attribute
ethical significance to an organism’s potential for human life, whereas
“liberals” are likely to deny both the logical coherence of the
concept and its ethical significance. Whether favorable or critical, both sides
of the debate have had in mind a very specific sense of potentiality, namely,
natural potentiality, a pre-given telos awaiting to unfold.
This Article argues that an equally important and novel sense of potentiality is
at play in these cases, namely, techno-potentiality, a power that medical
technology extracts from the organism and holds in-reserve for future use.
Examining three bioethical debates, brain-death pregnancy, fetus viability, and
pre-implanted embryos, the Article demonstrates the importance of
techno-potentiality for understanding how these debates have come about.
Understanding the emergence of a new kind of potentiality is as ethically
significance as is resolving the bioethical dilemmas to which it gives rise.
Qualitative study of disaster preparedness in an Indonesian village: Interviews with survivors of flash flooding near Bandung
Authors: Tejakusuma Iwan Gunawan , Sittadewi Euthalia Hanggari 
Published: January 2018

Abstract
Debris flows and flash floods pose a continuing hazard to Nyalindung, a village in a mountainous part of West Java. On 16 December 2013, three days of heavy rain and a partial breaching of a succession of landslide dams triggered a debris flow and flash flood. One person died, nine homes were damaged, and 53 residents were evacuated. We asked villagers who were directly affected by that disaster about their knowledge of the hazard, in the hope of developing adaptation strategies. The survey showed that the majority of the villagers first became aware of the hazard during the 2013 disaster. Practical solutions exclude relocation because the village has stood in flow paths for the past 70 years or more, and because the families residing there are attached to the land and each other. We recommend combining public education about existing hazards with early warning technology.
Extreme Climate Events, Household Decision-Making and Transitions in the Immediate Aftermath of Hurricane Sandy
Authors: Solecki William , Leichenko Robin , Eisenhauer David 
Published: January 2018

AbstractIt is five years since Hurricane Sandy heavily damaged the New York- New Jersey Metropolitan region, and the fuller character of the long-term response can be better understood. The long-term response to Hurricane Sandy and the flooding risks it illustrated are set in myriad of individual and collective decisions taken during the time following the event. While the physical vulnerability of this region to storm surge flooding and climate change risks including sea level rise has been well-documented within the scholarly literature, Sandy’s impact placed decision-makingpost extreme events into the forefront of public and private discussions about the appropriate response. Some of the most fundamental choices were made by individual homeowners who houses were damaged and in some cases made uninhabitable following the storm. These individuals were forced to make decisions regarding where they would live and whether Sandy’s impact would result in their moving. In the disaster recovery and rebuilding context, these early household struggles about whether to leave or stay are often lost in the wider and longer narrative of recovery. To examine this early phase, this paper presents results of a research study that documented the ephemeral evidence of the initial phase of recovery in coastal communities that were heavily impacted by Hurricane Sandy’s storm surge and flooding. Hurricane Sandy and the immediate response to the storm created conditions for a potential large-scale transformation with respect to settlement of the coastal zone. In the paper, we examine and analyze survey and interview results of sixty-one residents and two dozen local stakeholders and practitioners to understand the stresses and transitions experienced by flooded households and the implications for the longer term resiliency of the communities in which they are located.
Extracting rents through foreclosures: The rescue of Catalunya Banc as a new urban strategy following the burst of the Spanish bubble
Authors: Vives-Miró Sònia , Gutiérrez Aaron 
Published: January 2018

AbstractUsing the paradigmatic example of Catalunya Banc, this paper analyses the Spanish varieties of the new financial engineering used to appropriate urban rent by home dispossession. It aims to contribute to the study of the new forms of financialization that have appeared since 2008. Particular attention is given to the role of the state, the emergence of private equity funds as global real estate owners and how this has translated into a wave of evictions due to mortgage foreclosures. In short, this article highlights the implications of the uneven development resulting from the exhaustion of the so-called Spanish model of accumulation during the real estate boom years.
Anomalous Bessel vortex beam: modulating orbital angular momentum with propagation
Authors: Yang Yuanjie , Zhu Xinlei , Zeng Jun , Lu Xingyuan , Zhao Chengliang , Cai Yangjian 
Published: January 2018

AbstractZero-order and higher-order Bessel beams are well-known nondiffracting beams. Namely, they propagate with invariant profile (intensity) and carry a fixed orbital angular momentum. Here, we propose and experimentally study an anomalous Bessel vortex beam. Unlike the traditional Bessel beams, the anomalous Bessel vortex beam carries decreasing orbital angular momentum along the propagation axis in free space. In other words, the local topological charge is inversely proportional to the propagation distance. Both the intensity and phase patterns of the generated beams are measured experimentally, and the experimental results agree well with the simulations. We demonstrate an easy way to modulate the beam’s topological charge to be an arbitrary value, both integer and fractional, within a continuous range. The simplicity of this geometry encourages its applications in optical trapping and quantum information, and the like.
Novel and versatile solid-state chemiluminescence sensor based on TiO2-Ru(bpy)32+ nanoparticles for pharmaceutical drugs detection
Authors: Al-Hetlani Entesar , Amin Mohamed O. , Madkour Metwally 
Published: January 2018

AbstractThis work describes a novel and versatile solid-state chemiluminescence sensor for analyte detection using TiO2-Ru(bpy)32+-Ce(IV). Herein, we report the synthesis, characterization, optimization and application of a new type of hybrid nanoparticles (NPs). Mesoporous TiO2-Ru(bpy)32+ NPs were prepared using a modified sol-gel method by incorporating Ru(bpy)32+ into the initial reaction mixture at various concentrations. The resultant bright orange precipitate was characterized via transmission electron microscopy, N2 sorpometry, inductively coupled plasma-optical emission spectrometer (ICP-OES), Raman and UV-Vis spectroscopy techniques. The concentration of Ru(bpy)32+ complex in the NPs was quantified using ICP-OES, and its chemiluminescence (CL) response was measured and compared with the same concentration in the liquid phase using oxalate as model analyte. The results showed that this type of hybrid material exhibited a higher CL signal compared with the liquid phase due to the enlarged surface area of the hybrid NPs (~149.6 m2/g). The amount of TiO2-Ru(bpy)32+ NPs and the effect of the analyte flow rate were also investigated to optimize the CL signal. The optimized system was further used to detect oxalate and two pharmaceutical drugs, namely, imipramine and promazine. The linear range for both drugs was 1–100 pm with limits of detection (LOD) of 0.1 and 0.5 pm, respectively. This approach is considered to be simple, low cost and facile and can be applied to a wide range of analytes.
Computational insight into magnetic behavior and properties of the transition metal complexes with redox-active ligands: a DFT approach
Authors: Minkin Vladimir I. , Starikov Andrey G. , Starikova Alyona A. 
Published: January 2018

Abstract
Various aspects related to the use of DFT method for the study of magnetic, geometry and energetic properties of transition metal complexes with redox-active ligands are considered. Particular attention is given to the correct choice of model compounds and methodology of the calculations.
Effect of carbon fiber as secondary filler on the electrical, thermal and rheological properties of carbon fiber/polypropylene composites
Authors: Shaikh Hamid M. 
Published: January 2018

Abstract
In this study, hybrid composites based on carbon fiber (CF) and polypropylene (PP) were fabricated by melt mixing techniques. The composite with optimum fiber length (8 mm) was chosen as a reference material, and to it, CF of various lengths (6 mm, 100 μm, 60 μm and 100 nm) were added as secondary filler. To understand the synergism effect of these fibers, electrical, rheological, thermal and morphological properties of composites were studied. The surface resistivity of the neat PP is in the order of 1017 ohm/square. It is observed that surface resistivity of a single fiber filled composite is in the range of 104 ohm/square, while it further decreased by three-fold (101 ohm/square) in the case of secondary fiber filled composites, indicating that the electrical network remains intact. Thermal analysis shows variation in crystallization of hybrid composites that can correlate to the lengths of secondary fibers. The rheological analysis shows that the frequency dependence of storage modulus (G′) and loss modulus (G″) in the lower frequency region indicates an elastic solid like behavior of these composites. The morphological behavior showed that the CFs are well dispersed and form a good adhesion with the polymer matrix.
Neurotrophic factors hold promise for the future of Parkinson’s disease treatment: is there a light at the end of the tunnel?
Authors: Nasrolahi Ava , Mahmoudi Javad , Akbarzadeh Abolfazl , Karimipour Mohammad , Sadigh-Eteghad Saeed , Salehi Roya , Farhoudi Mehdi 
Published: January 2018

AbstractParkinson’s disease (PD) is the second most common neurodegenerative disorder and is characterized by a spectrum of clinicopathologic signs and a complex etiology. PD results from the degeneration of dopaminergic (DAergic) neurons in the substantia nigra. Current therapies for PD are only able to alleviate symptoms without stopping disease progression. In addition, the available therapeutic strategies do not have long-lasting effects. Furthermore, these therapies cause different ranges of adverse side effects. There is great interest in neurotrophic factors (NTFs) due to their ability to promote the survival of different neural cells. These factors are divided into four families: neurotrophins, neurokines, the glial cell line-derived NTF family of ligands, and the newly recognized cerebral DA NTF/mesencephalic astrocyte-derived NTF family. The protective and therapeutic effects of these factors on DAergic neurons make them suitable for the prevention of progressive cell loss in PD. Based on the above premise, we focus on the protective effects of NTFs, especially CDNF and MANF, on nigrostriatal DAergic neurons in PD.
Quality Management in the Higher Education of the Republic of Moldova as a Framework for University Performance
Authors: Prisacaru Veronica , Litvin Aurelia 
Published: January 2018

Abstract
This investigation is focused on two objectives: 1) explaining the relationship between quality management and performance management in higher education; 2) evaluating the existing quality management systems in the higher education institutions of the Republic of Moldova. In order to accomplish the first objective, a comparative theoretical analysis of the quality management and performance management was carried out in terms of common aspects and distinctive peculiarities. Consequently, it was reasoned that the performance management system of a higher education institution is created and functions on the basis of the quality management system by extending the area of the quality objectives to the level at which they will ensure performance or, in other terms, by moving towards excellence. In order to achieve the second objective, an opinion survey for the teaching and managerial staff from 6 universities was carried out. As a consequence of processing the obtained results, there were identified problems related to the functioning of the quality management systems. The investigation resulted in the formulation of a set of recommendations for the higher education institutions of the Republic of Moldova in order to increase the efficiency of the quality management systems functioning and thus to ensure an efficient management.
Educating for Sustainability: Perspectives and Critical Notes on Accounting Scholars’ Role in Higher Education
Authors: del Baldo Mara , Baldarelli Maria-Gabriella 
Published: January 2018

Abstract
Education for sustainable development represents a relevant issue that allows Universities to lead and respond to social needs towards a more sustainable life and a complete change in the global paradigm of education and involvement of society. A crucial point for developing a culturally sensitive vision is to deepen the scholars’ genuine commitment to sustainability. A pillar of sustainability education should rest on authenticity, intended as coherence between the scholars’ research and teaching arguments relative to sustainability and the concrete behaviors held in their professional and personal spheres of life. Starting from this premise, the papers aims to inquire if there is a decoupling between the concepts scholars contribute to promote within the sustainability discourse and the real practice of sustainability in their personal and professional experience. “Is there a missing link between what scholars teach and study, thereby contributing to sustainability research and their daily choices and style of life?” After having presented the research design and the methodological approach adopted to empirically investigate the phenomenon the attention has been focused on the social and environmental accounting research literature, where some contributions claim for the presence of “blue meanies” that invade the world of scholarship, reflection, collegiality and hinder the development of challenges toward sustainability. The preliminary results of the explorative study suggest that a lot of tension related to education for sustainability improve the transfer of sustainable values and attitudes within the scientific community and the students, while several factors hinder sustainable behaviors in the daily professional and personal life of scholars, thus undermining relationships which are a pillar of sustainability.
A temporal profile of pro-abstinence-oriented constructs from the modified theory of planed behavior in a Slovenian clinical sample of treated alcoholics – an 18-year follow-up
Authors: Radovanović Mirjana , Rus-Makovec Maja 
Published: January 2018

AbstractIntroductionUsing the modified Theory of Planned Behaviour (mTPB), different indicators of therapeutic success were studied to understand pro-abstinence behavioural orientation during an 18-year after-care period following a 3-month intensive alcoholism treatment. The indicators were: perceived needs satisfaction (NS), normative differential (ND), perceived alcohol utility (UT), beliefs about treatment programme benefits (BE) and behavioural intentions (BI).MethodsThe sample of 167 patients who consecutively started an intensive alcoholism treatment programme has been followed-up for 18 years, using standardised ailed instruments at the end of the treatment, and in the years 4-5, 9 and 18 of follow-up. The last data collection was completed by 32 subjects in 2010. The analysis followed the standard explore-analyse-explore approach. After the initial descriptive exploration of data, multivariate analysis of variance (MANOVA) in SPSS statistical package was set to explore between-groups and within-groups differences over time.ResultsAt the between-group level, BI remained stable at the same level as at the end of the treatment programme, whereas BE and UT robustly changed over time and levelled off after 10 years of follow-up. NS and ND show a trend of pro-abstinent orientation and level off after 10 years of follow-up, although the trend is not significant. The same results were confirmed by the within-subject level.ConclusionsStudied constructs stabilised after ten years of follow-up, apart from BI. The latter suggests that BI level needed for completion of an intensive treatment programme suffices for the maintenance of abstinence when accompanied by the change in perception of alcohol usefulness.