ARTICLE | doi:10.20944/preprints201802.0140.v1
Subject: Medicine & Pharmacology, Psychiatry & Mental Health Studies Keywords: unwed mother; mental health; intellectual ability
Online: 22 February 2018 (09:03:42 CET)
Although the number of unwed mothers have mental health problems and intellectual disability, little research have focused on their mental and cognitive status. Since there has been public stigma of unwed mother in South Korea, they tend to conceal their status and less likely to seek psychiatric and psychological help. In this context, this study aims to assess current status of their mental health and intellectual characteristics. A total 48 unwed mothers from two shelter homes in South Korea were agreed to participate in the study. To compare mental health and intellectual abilities of unwed mothers with the general women population, reference data from national studies was used. Unwed mothers were more likely to have mood disorder, post traumatic stress disorder(PTSD), alcohol and nicotine use disorder, attention-deficit hyperactivity disorder (ADHD) than the general women population. Among 48 participants, 20 (41.7%) were lower than 70 Intelligence Quotient (IQ) and the mean of IQ (78.31) was significantly lower than normalized IQ mean of general women population. In logistic regression analysis, psychiatric disorders were associated intellectual disability. This study confirmed that unwed mothers dwelling in Korean shelter homes have more experience of mental disorders and lower intellectual ability than general women population.
ARTICLE | doi:10.20944/preprints202101.0421.v1
Subject: Social Sciences, Accounting Keywords: intellectual capital; intellectual capital model; performance; competency; critical thinking analysis
Online: 21 January 2021 (13:26:14 CET)
The era of globalization of the industrial revolution 4.0 was also marked by rapid economic, social, scientific, and technological developments. Currently, the company was demanded to maximize all its potential to compete with other companies. For this reason, it was hoped that companies could understand the importance of knowledge management-based intellectual capital through outreach, externalization, internalization, and combinations that had implications for improving employee performance and competency. This study was to identify and describe the enhancement of performance and competency-based on the optimization of the intellectual capital model in terms of critical thinking analysis. This study used a qualitative approach with critical thinking analysis through literature study methods. The findings results of this study were to improve performance and competency were the basic measurement models of intellectual capital, new intellectual capital measurement models in empirical studies, intellectual capital measurement models with bottlenecks, and environmental-based intellectual capital models. This study concluded that intellectual capital measurement should be determined as accumulation and interpretation in the proposed model for a company that was an applied subject with a qualitative intellectual capital index system, to provide a good tool for companies to managed intellectual capital.
ARTICLE | doi:10.20944/preprints202205.0054.v1
Online: 5 May 2022 (16:42:58 CEST)
From a strategic and an economic point of view, patent prior art searches are very useful for several reasons such as avoiding the infringement of third parties’ rights, reinventing something already new in the state of the art, speeding up the prosecution of a patent application, and getting a patent granted with a lower associated cost. A prior art search is carried out in patent databases (free of charge or fee-based) through keywords or classification symbols, indexing codes (IPC – International Patent Classification or CPC – Cooperative Patent Classification), or a combination of these, using Boolean or proximity operators. The classification codes are independent of the language used and can increase the number of relevant documents retrieved. Patent databases are all incomplete and therefore a search in multiple sources is suggested.
ARTICLE | doi:10.20944/preprints202206.0237.v1
Subject: Social Sciences, Education Studies Keywords: Social; Emotional; Intellectual Development; Children; Adolescents; Schools
Online: 16 June 2022 (10:46:01 CEST)
Educating children to be informed, responsible, socially adept citizens who care about others is an overarching purpose for schools. A rising variety of preventive and child development initiatives are being implemented in schools. Insufficient coordination with other school activities and neglect of implementation and assessment variables essential for a significant program impact these programs' current implications. They are not doomed to failure in the long term. The other challenges for scholars in school-based action research are identifying practical models to prevent problem characteristics, promoting positive child development, and supporting widespread development and sustainability of evidence-based preschool through educational practice. To conceptualize good youth development programs through Social and Emotional Learning (SEL) in schools, this research presents integrated social, emotional, and intellectual education (ISEIE). School interventions are necessary to implement the social and emotional skills on self-understanding, social knowledge, self-management, relationship management, responsibility, and decision-making. Schools are the best place to implement all these programs to create a better generation. To back up this viewpoint, this study looks at research from illustrative studies and research syntheses. In the end, this paper provides suggestions for implementing programs that combine social, emotional, and intellectual development.
ARTICLE | doi:10.20944/preprints202105.0540.v1
Subject: Social Sciences, Library & Information Science Keywords: Intellectual Property Legislations; Public University Libraries; Jordan
Online: 24 May 2021 (08:46:19 CEST)
Despite the scientific and technological development, libraries of Jordanian universities suffer from an obvious lack of digital information resources, because for many reasons, the most important of these is the non-application of intellectual property legislation (IPL) related to these resources. This study investigated the reality of the application of intellectual property legislation related to digital information resources at the libraries of public universities in Jordan. The population study consisted of all employees of departments of digital information resources. The study sample was (74) employees. Texts of regulations for the intended libraries and the Jordanian copyright law No. (22) for the year (1992) were reviewed and analyzed. In addition, a questionnaire was developed regarding the actual application of intellectual property legislation relating to digital resources at the university libraries in Jordan. Results revealed that the application of IP legislation relating to digital resources at the libraries of public universities in Jordan was moderate and that the supervising to the libraries of universities from the National Library regarding the protection of intellectual property rights of digital resources was moderate. The study recommended the application of intellectual property legislation related to digital resources in the intended libraries, this could be achieved through including intellectual property legislation in the regulations of public services in the intended libraries, to provide for the terms of protecting IP rights for digital resources, improving the legislation, developing of the Jordanian copyright law to be compatible with digital information resources, providing the necessary support for these libraries, and emphasizing the role of the National Library.
SHORT NOTE | doi:10.20944/preprints202103.0195.v1
Subject: Social Sciences, Accounting Keywords: Intellectual Quotient; Gross Domestic Product; Correlation; History
Online: 5 March 2021 (21:15:17 CET)
A remarkable, unquestioned assumption in studies measuring the association between national average Intellectual Quotients (IQ) and Gross Domestic Products (GDP) per capita is that a supposedly immutable genetic factor (IQ) may be correlated with a markedly fluctuant one (the wealth of nations). Using historical GDP per capita data produced by the Maddison project, we find that, over history, the (Pearson productmoment) correlation coefficient (r) between average IQ and GDP per capita is highly variable and ranges from strong negative values to strong positive values. The correlation between national IQ and GDP per capita is thus a snapshot of the world order at some point in time, and historical data allow us to identify several other eras. Moreover, global GDP at any point in time is never difficult to predict in the first place. We show that arbitrary ad-hoc scores based on a country’s continental location present a more significant correlation with contemporary GDP per capita. We conclude this paper by a call to clarify the purpose of IQ studies in Macroeconomics and for the consideration of GDP as a time-series in this line of research.
Subject: Behavioral Sciences, Applied Psychology Keywords: screening; dementia; intellectual disability; early-onset; neuropsychology
Online: 15 October 2020 (12:01:34 CEST)
Background and Aims: Screening and assessment of cognitive changes in adults with Intellectual Disabilities, mainly Down Syndrome (DS), is crucial to offer appropriate services to their needs. We present a systematic review of the existing instruments assessing dementia, aiming to support researchers and clinicians’ best practice. Methods: Searches were carried out in the databases Web of Science; PubMed; PsycINFO in March 2019 and updated in May 2020. Studies were selected and examined if they: (1) focused on assessing age-related cognitive changes in person with ID; (2) included adults and/or older adults; (3) included scales and batteries for cognitive assessment. Results: Forty-eight cross-sectional studies and twenty-six longitudinal studies were selected representing a total sample of 5,851 participants (4,089 DS and 1,801 with other ID). In those studies, we found 38 scales, questionnaires, and inventories, and 14 batteries for assessing cognitive and behavioural changes in adults with DS and other ID. Conclusion: The most used instrument completed by an informant or carer was the Dementia Questionnaire for Learning Disabilities (DLD), and its previous versions. We discuss the strengths and limitations of the instruments and outline recommendations for future use.
REVIEW | doi:10.20944/preprints201806.0182.v1
Subject: Social Sciences, Law Keywords: intellectual property, geographic indication, cashew nuts, Mozambique
Online: 12 June 2018 (10:18:52 CEST)
The protection of Geographic Indications (GIs) is part of the intellectual property (IP) rights described in the Agreement on Trade Related Aspects of Intellectual Property Rights (TRIPS) after the Uruguay Round (1986-1994). The members of the World Trade Organisation (WTO), including Mozambique, have adopted it. This country legislated GI under Decree 18/99 (04/05/1999, title II, chapter VI) of the national Industrial Property Code, harmonised with TRIPS. However, there is little information about its enforcement and impact in the industry. This review analyses the possibility of protecting the Mozambican cashew nuts industry under the GI act. The industry, with major participation of smallholders and employing mostly women, produces one of the most profitable export commodities, though it has suffered colossal losses over the last thirty-five years. The analysis has shown that it is suitable and probably advantageous to protect the cashew nuts under the Decree 18/99. On the other hand, other local trade policies from 1991 are negatively impacting the entire industry and these might create the illusion of inefficacy of the new IP rights including the protection of GIs.
REVIEW | doi:10.20944/preprints202105.0398.v1
Subject: Biology, Agricultural Sciences & Agronomy Keywords: intellectual property; intellectual property protection; plant variety protection, plant breeders’ rights, essentially derived variety; utility patent; plant breeding; biotechnology.
Online: 17 May 2021 (17:03:30 CEST)
This review examines the categorization of Essentially Derived Varieties (EDV) introduced in the 1991 revision of the Convention of the Union internationale pour la protection des obtentions végétales (UPOV). Challenges in the implementation of the concept and progress made on a crop-by-crop basis to provide greater clarity and more efficient implementation are reviewed. The current approach to EDV remains valid provided i) clarity on thresholds can be achieved including through resource intensive research on an individual crop species basis and ii) that threshold clarity does not lead to perverse incentives to avoid detection of essential derivation. However, technological advances leading to new varieties resulting from the simultaneous introduction or change in expression of more than “a few” genes will so challenge the concept to require a new Convention. Revision could include deletion of the concept of essential derivation and revision on a crop-by-crop basis of the breeder exception. Countries that allow utility patents for individual plant varieties per se should consider removing that possibility unless plant breeders utilize those encouragements for risk taking and investment to broaden the germplasm base upon which the long-term sustainability of plant breeding resides.
REVIEW | doi:10.20944/preprints202211.0563.v1
Subject: Behavioral Sciences, Developmental Psychology Keywords: physical environment; conduct disorders; intellectual disabilities; aggression; review
Online: 30 November 2022 (04:19:22 CET)
The physical environment is of critical importance to child development. Understanding how exposure to domains of the physical environment such as greenspace, urbanicity, air pollution or noise affects externalising problems in typical and neurodiverse children is of particular importance given the significant long-term impact of those problems. In this narrative review we investigated the evidence for domains of the physical environment that may ameliorate or contribute to the display of externalising behaviours. We have considered a broad range of study designs that include typically developing and neurodiverse children and young people aged 0-18 years. We used the GRADE system to appraise the evidence. Searches were performed in 8 databases in July 2020 and updated in June 2022. Additional articles were further identified by hand-searching reference lists of included papers. The protocol for the review was preregistered with PROSPERO. Results: We retrieved 7174 studies of which 67 are included in this review. The studies reported on green space, environmental noise and music, air pollution, meteorological effects, spatial density, urban or rural setting, and home elements (e.g., damp/sensory aspects/colour). They all used well validated parent and child reported measures of externalising problems. Most of the studies were rated as having high or probably high risk of bias. Greenspace rurality and interior design had most evidence, although the certainty of the association was low. As expected, noise, air pollution, urbanicity, spatial density, colour and humidity appeared to increase the display of externalising behaviours. There was a dearth of studies on the role of the physical environment in neurodiverse children. The studies were heterogeneous and measured a range of externalising behaviours from symptoms to full syndromes. Greenspace exposure was the most common domain studied but certainty of evidence for the association between environmental exposures and externalising problems in the child or young person was low across all domains. We found a large knowledge gap in the literature concerning neurodiverse children, which suggests that future studies should focus on these children, who are also more likely to experience adverse early life experiences including living in more deprived environments as well as being highly vulnerable to the onset of mental ill health. Such research should also aim to dis-aggregate the mechanisms of action for both environmental influences on the externalising problems the results of which may point to pathways for public health interventions and policy development to address inequities that can be relevant to ill health in neurodiverse young people.
ARTICLE | doi:10.20944/preprints202102.0437.v1
Subject: Social Sciences, Accounting Keywords: Jordanian; Bibliometric; Libraries and Information; Intellectual; Articles; Publications
Online: 19 February 2021 (12:34:23 CET)
This study provides the bibliographical analysis of the articles produced by various authors from the year 1965 to 2017. Bibliometric approach is used to analyze data that is provided through standard statistical calculations. Findings indicated that, the highest rate of researches were produced during 1980s, with the average publication of 28.6 articles each year. Findings further indicated that the ratio of male population was high in producing articles, where most of the articles were based on single authorship. The analysis of the trend in terms of article type indicated researchers high level interest in producing biographies during 90s, which was then shifted to the production of articles related to library management after the beginning of 2000. Following the findings of this study, it is suggested to encourage researchers to explore diverse topics that lacked the interest of different authors.
ARTICLE | doi:10.20944/preprints201904.0268.v1
Subject: Social Sciences, Economics Keywords: intellectual capital; sustainability; harness; bio-economy; global crisis
Online: 24 April 2019 (12:10:55 CEST)
Bio-economy is a major area of the strategy that can afford the European Union to achieve growth: (i) smart, through the development of knowledge and innovation; and (ii) sustainable, based on a greener, more efficient economy in resource management. We believe that the progress of bio-economy cannot be achieved without the harnessing of intellectual capital. Our research aimed to emphasize the benefits of the dynamics of the intellectual capital growth on the evolution of the bio-economy. Thus, the information published by Eurostat (European Statistic Institute) during a period spanning seven years (2011-2018) was used to assess the influence exerted by the conduct of the harness of intellectual capital related to sustainability as well as for the reporting of indicators relevant to appreciating an economic progress and sustainability (renewable waste material, share of renewable energy and energy intensity of the economy). The ultimate goal was represented by the generation of a regression model to see what factor influences mostly the progress of the bio-economy at European and Romanian level. Significant dependency relationships were identified. The results remain robust even after the introduction of certain control variables, such as gross domestic product rate, food production, population growth, urbanization growth and inflation. Our paper sets out to contribute to expanding the specialty literature by highlighting the involvement of intellectual capital as a factor in optimizing sustainability growth and, at a methodological level, by using a multiple regression.
ARTICLE | doi:10.20944/preprints201810.0282.v2
Subject: Social Sciences, Economics Keywords: intellectual capital; sustainability; harness; bio-economy; global crisis
Online: 3 January 2019 (11:08:57 CET)
Bio-economy is a major area of the strategy that must enable the European Union to achieve growth: smart, through the development of knowledge and innovation; and sustainable, based on a greener, more efficient economy in resource management. We believe that the progress of bio-economy cannot be achieved without the harnessing of intellectual capital. Our research aimed to emphasize the benefits of the dynamics of the intellectual capital growth on the evolution of the bio-economy. The aim of this analysis was to study the established link between the Energy Intensity of the Economy (EIE) and a number of factors that can measure the intellectual capital, such as: Market Capitalization of Bitcoin, Patent applications listed by European Patent Office and the Turnover from Innovation as a proportion of the total Turnover. The ultimate goal was represented by the generation of a regression model to see what factor influences mostly the progress of the bio-economy at European and Romanian level.
ARTICLE | doi:10.20944/preprints202201.0470.v1
Subject: Social Sciences, Economics Keywords: General; Innovation and Invention: Processes and Incentives; Management of Technological Innovation; Technological Change: Choices and Consequences; Intellectual Property and Intellectual Capital.
Online: 31 January 2022 (14:02:47 CET)
The determinants of enterprises providing ICT training in Europe are analyzed in this article. Data are collected from the European Innovation Scoreboard-EIS of the European Commission for 36 European countries in the period 2000-2019. Data are analyzed with Panel Data with Fixed Effects, Panel Data with Random Effects, Dynamic Panel, WLS and Pooled OLS. Results show that the number of enterprises providing ICT training in Europe is positively associate with “Innovation Index”, “Innovators”, “New Doctorate Graduates”, “Tertiary Education” and negatively associated with “Government Procurement of Advanced Technology Products”, “Human Resources”, and “Marketing or Organisational Innovators”. In adjunct a cluster analysis is performed by using k-Means algorithm optimized with the Silhouette Coefficient and we find the presence of four clusters. Finally, we use eight different machine learning algorithms to predict the value of the enterprises providing ICT training in Europe. We found that the Simple Tree Regression is the best predictor and that the number of enterprises providing ICT training in Europe is expected to growth of the 5,02%.
ARTICLE | doi:10.20944/preprints201901.0318.v1
Subject: Social Sciences, Finance Keywords: intellectual capital; firm value; managerial ownership; Tobin's Q; VAIC
Online: 31 January 2019 (06:44:01 CET)
Rapidly changing dynamics of globalization and increasing market competition are causing the companies all around the world confronting several new challenges and opportunities. To be competitive and successful apart from relative importance of physical resources, companies must adapt modern strategies and policies regarding market flexibility and development. The purpose of this study is to empirically investigate the relationship between intellectual capital and firm value. Furthermore, the moderating role of managerial ownership has been evaluated with the help of regression analysis. The sample included the panel data taken from non-financial firms listed on Pakistan stock exchange (PSX) covering the period 2010-2015. A sample of 79 firms out of 384 firms have been selected with the help of systematic sampling technique. VAIC (Value Added Intellectual Coefficient) model has been used for the calculation of intellectual capital. Tobin's Q has been taken as a measure of firm value. Managerial ownership has been tested as moderator. Based on data analysis, it is concluded that the relationship between intellectual capital and firm value is positively significant. It is also concluded that managerial ownership moderates the relationship between intellectual capital and firm value negatively.
ARTICLE | doi:10.20944/preprints202009.0092.v1
Subject: Behavioral Sciences, Clinical Psychology Keywords: intellectual disability; children; South Africa; access to services; poverty; inequality
Online: 4 September 2020 (08:15:25 CEST)
1) Background: Intellectual disability is more common in low- and middle-income countries than in high-income countries. Stigma and discrimination have contributed to barriers to people with intellectual disability accessing healthcare. As part of a larger study on caregiving of children with intellectual disability in urban Cape Town, South Africa, we interviewed a sub-group of families who had never used the intellectual disability services available to them, or who had stopped using them; 2) Methods: We employed a qualitative research design and conducted semi-structured interviews to explore the views and perspectives of parents and caregivers of children with intellectual disability who are not using specialised hospital services. We developed an interview guide to help explore caregivers’ and parents’ views; 3) Results: Results revealed that caregivers and parents of children with intellectual disability did not use the service due to financial difficulties, fragile care networks and opportunity costs, community stigma and lack of safety, lack of faith in services and powerlessness at effecting changes, and self-stigmatisation; 4) Conclusion: Current findings highlight a need for increased intervention at community level and collaboration with community-based projects to facilitate access to services, and engagement with broader issues of social exclusion.
Subject: Biology, Agricultural Sciences & Agronomy Keywords: public sector science; agriculture; equity; seed sovereignty; food security; intellectual property
Online: 26 January 2022 (12:48:26 CET)
Plant breeding is central to agriculture, and shifts in plant breeding practices (e.g., hybrid development) and selection goals (e.g., response to synthetic fertilizer) have catalyzed monumental and persistent changes in agricultural production systems of all scales with social, political, economic, and environmental repercussions. While plant breeders are largely trained in the sciences of biology, genetics, and statistics, we posit an ethical imperative to examine the degree of equity with which the benefits of new research and plant varieties are distributed. In the United States, the history of plant breeding parallels the colonial history of agriculture, which compels reflection by current plant breeders about their role in shaping our agricultural system. In this perspective essay, we examine longstanding ideas about equitable food systems through the lens of public plant breeding in the United States. We propose a framework for equitable public plant breeding with respect to both its process and outcomes, and we intend for the ideas presented herein to catalyze reflection, discussions, and actions as the plant breeding community seeks greater equity in the food and seed systems our work supports.
ARTICLE | doi:10.20944/preprints202211.0273.v1
Subject: Medicine & Pharmacology, General Medical Research Keywords: intellectual disability; KAT6A syndrome; Lysine acetyltransferase 6 A; pantothenate; L-carnitine; histone acetylation
Online: 15 November 2022 (04:14:12 CET)
Autism Spectrum disorder (ASD) and intellectual disability (ID) are the most frequent develop-mental disorders with a prevalence between 3% and 5% of the population. In addition, both ASD and ID can be found in the same patient. Mutations in several genes involved in the epigenetic regulation of gene expression have been linked to different ID associated with ASD features including alterations of the ly-sine-acetyltransferase 6A (KAT6A) gene in KAT6A syndrome. KAT6A enzyme participates in a wide range of critical cellular functions such as chromatin remodeling, gene expression, protein synthesis, cell metabolism, and replication. In this manuscript, we examined the pathophysiolog-ical alterations in fibroblasts derived from three patients harboring KAT6A mutations. We ad-dressed survival in stress medium, histone acetylation, protein expression patterns and tran-scriptome analysis as well as cell bioenergetics. In addition, we evaluated the therapeutic effec-tiveness of epigenetic modulators and mitochondrial boosting agents such as pantothenate and L-carnitine in correcting the mutant phenotype. Pantothenate and L-carnitine treatment increased histone acetylation and corrected protein and transcriptomic expression patterns in mutant KAT6A cells. Furthermore, cell bioenergetics of mutant cells was significantly improved. Our results suggest that pantothenate and L-carnitine can significantly correct the mutant phe-notype in cellular models of KAT6A syndrome.
ARTICLE | doi:10.20944/preprints202111.0013.v1
Subject: Life Sciences, Molecular Biology Keywords: Nonsense-mediated mRNA Decay; UPF3B-knockout; RNA-Sequencing; Intellectual disability; Neuro-developmental disorders
Online: 1 November 2021 (12:17:15 CET)
UPF3B is a constituent of the classical nonsense-mediated mRNA decay (NMD) pathway that degrades both the aberrant transcripts and a set of physiological transcripts. In higher eukaryotes, UPF3B have significant biochemical functions in diverse cellular processes including NMD and translation. UPF3B plays a crucial role in neuronal development and differentiation. Next-generation sequencing technologies identified several loss-of-function mutations in the UPF3B gene that results in neuro-developmental disorders in humans. To uncover the mechanistic role of UPF3B in neuronal functions, we have generated the UPF3B-knockout mammalian cell line model system using CRISPR-Cas9 gene editing method. RNA-Sequencing Analysis of cellular transcriptome from UPF3B-KO cells identified specific genes involved in cell growth and neuronal functions. Altered expression of genes related to the axon guidance pathway delineated the UPF3B function to regulate the neuron-specific genes. Functional enrichment analysis identified the genes involved in the disorders related to mental health and intellectual disability. Our study has the potential to identify the direct players of intellectual disability and will have broader implications.
ARTICLE | doi:10.20944/preprints202011.0635.v1
Subject: Social Sciences, Accounting Keywords: Intellectual property protection; independent R&D investment; green technology innovation; masking effect; threshold effect
Online: 25 November 2020 (11:20:02 CET)
Due to the continuous trade friction between China and the United States, for domestic enterprises in China, the cost of importing foreign technologies is increasing. Thus, the independent research and development (R&D) becomes particularly important for the realization of green technology innovation (GTI). This paper establishes a non-linear mediating effect model based on the data of various regions in China from 2012 to 2018. The main results are shown in the following. Firstly, there is an inverted U-shaped relationship between the intensity of intellectual property protection (IPP) and the level of GTI. Furthermore, the independent R&D investment has a masking effect between them. Secondly, by taking the independent R&D investment as a threshold variable, we prove our findings. Considering that the intensity of IPP is at a high level in most regions of China, the above statements mean that the enterprises need to continuously increase their investment in R&D, in order to further improve the regional ability in GTI. Meanwhile, local governments should also stimulate enterprises' willingness to expand their scale in R&D by issuing incentive policies, such as R&D tax incentives and government subsidies.
ARTICLE | doi:10.20944/preprints201811.0422.v1
Subject: Life Sciences, Biochemistry Keywords: snyder-robinson syndrome; spermine synthase; X-linked intellectual disability; polyamine transport; spermidine; spermine; transglutaminase
Online: 19 November 2018 (06:49:46 CET)
Loss-of-function mutations of the spermine synthase gene (SMS) result in Snyder-Robinson Syndrome (SRS), a recessive X-linked syndrome characterized by intellectual disability, osteoporosis, hypotonia, speech abnormalities, kyphoscoliosis, and seizures. As SMS catalyzes the biosynthesis of the polyamine spermine from its precursor spermidine, SMS deficiency causes a lack of spermine with an accumulation of spermidine. As polyamines, spermine and spermidine play essential cellular roles that require tight homeostatic control to ensure normal cell growth, differentiation, and survival. Using patient-derived lymphoblast cell lines, we sought to comprehensively investigate the effects of SMS deficiency on polyamine homeostatic mechanisms including polyamine biosynthetic and catabolic enzymes, derivatives of the natural polyamines, and polyamine transport activity. In addition to decreased spermine and increased spermidine in SRS cells, ornithine decarboxylase activity and its product putrescine were significantly decreased. Treatment of SRS cells with exogenous spermine revealed that polyamine transport was active, as the cells accumulated spermine, decreased their spermidine level, and established a spermidine-to-spermine ratio within the range of wild type cells. SRS cells also demonstrated elevated levels of tissue transglutaminase, a change associated with certain neurodegenerative diseases. These studies form a basis for further investigations into the leading biochemical changes and properties of SMS-mutant cells that potentially represent therapeutic targets for the treatment of Snyder-Robinson Syndrome.
Subject: Life Sciences, Biochemistry Keywords: zoonotic risk; viral emergence; viral ecology; genomics; machine learning; access and benefit sharing; intellectual property law; global health
Online: 7 April 2021 (11:53:59 CEST)
In light of the urgency raised by the COVID-19 pandemic, global investment in wildlife virology is likely to increase, and new surveillance programs will identify hundreds of novel viruses that might someday pose a threat to humans. Our capacity to identify which viruses are capable of zoonotic emergence depends on the existence of a technology—a machine learning model or other informatic system—that leverages available data on known zoonoses to identify which animal pathogens could someday pose a threat to global health. We synthesize the findings of an interdisciplinary workshop on zoonotic risk technologies to answer the following questions: What are the prerequisites, in terms of open data, equity, and interdisciplinary collaboration, to the development and application of those tools? What effect could the technology have on global health? Who would control that technology, who would have access to it, and who would benefit from it? Would it improve pandemic prevention? Could it create new challenges?
CASE REPORT | doi:10.20944/preprints202011.0710.v1
Subject: Medicine & Pharmacology, Allergology Keywords: 22q13.3 duplication; Auditory steady state response, ASSR; SHANK3; biomarker; auditory event-related potential, ERP; autism spectrum disorders; intellectual disabilities
Online: 30 November 2020 (08:33:26 CET)
SHANK3 encodes scaffold protein involved in postsynaptic receptor density in glutamatergic synapses, including those in the parvalbumin (PV)+inhibitory neurons – the key players in generation of sensory gamma oscillations, such as 40-Hz auditory steady-state response(ASSR). Here we describe a clinical and neurophysiological phenotype of a 15-years old girl (SH01) with microduplication of 16389 bp in 22q13.33, affecting the SHANK3 gene in comparison to typically developing children (n=32). EEG were recorded during the binaurally presentation of 40-Hz clicks’ trains lasting for 500 ms with inter-trial intervals 500-800 ms. SH01 was diagnosed with mild mental retardation and learning disabilities(F70.88) and had problems with reading and writing, as well as smaller vocabulary than TD peers. Her clinical phenotype generally resembled the phenotype of previously described patients with 22q13.33 microduplication. SH01 had mild autistic symptoms but below the threshold for ASD diagnosis. No seizures or MRI abnormalities were reported. While SH01 had relatively preserved auditory event-related potential(ERP) with slightly attenuated P1, her 40-Hz ASSR was totally absent significantly deviating from TD’s ASSR. Absence of 40-Hz ASSR in patient with microduplication, affected SHANK3 gene, indicates deficient temporal resolution of the auditory system, that might underlie language problems, and represent neurophysiological biomarker of SHANK3 abnormalities.
REVIEW | doi:10.20944/preprints202009.0399.v1
Subject: Biology, Other Keywords: inositide; phosphoinositide; 5-phosphatase; INPP5K; SKIP; phosphatidylinositol 3,4,5-trisphosphate; phosphatidylinositol 4,5-bisphosphate; congenital muscular dystrophy; cataract; intellectual disability; insulin signaling; insulin resistance; endoplasmic reticulum; endoplasmic reticulum stress; unfolded protein response
Online: 17 September 2020 (11:19:10 CEST)
INPP5K (Inositol Polyphosphate 5-Phosphatase K, or SKIP (for Skeletal muscle and Kidney enriched Inositol Phosphatase) is a member of the phosphoinositide 5-phosphatases family. Its protein structure is comprised of a N-terminal catalytic domain which hydrolyses both PtdIns(4,5)P2 and PtdIns(3,4,5)P3, followed by a SKICH domain at the C-terminus which is responsible for protein-protein interactions and subcellular localization of INPP5K. Strikingly, INPP5K is mostly concentrated in the endoplasmic reticulum, although it is also detected at the plasma membrane, in the cytosol and the nucleus. Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystrophy with cataract, short stature and intellectual disability. INPP5K functions extend from control of insulin signaling, endoplasmic reticulum stress response and structural integrity, myoblast differentiation, cytoskeleton organization, cell adhesion and migration, renal osmoregulation, to cancer. The goal of this review is thus to summarize and comment recent and less recent data in the literature on INPP5K, in particular on the structure, expression, intracellular localization, interactions and functions of this specific member of the 5-phosphatases family.