jimnoneill/paper-to-field-training huggingface dataset:
After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report

Field: Medicine (Health Sciences)

Abstract Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects. One of the heterogeneous forms of albinism is observed in Hermansky–Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets. Methods In this report, we describe a case of a pair of Puerto Rican siblings with albinism that were clinically diagnosed with HPS during childhood. Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. We performed exome sequencing, validation by PCR, and cloning of PCR products followed by Sanger sequencing in the family members. Results We discovered no mutations that could explain an HPS diagnosis. Instead, we found the siblings were compound heterozygotes for 4 variants in the Tyrosinase gene: c.‐301C>T, c.140G>A (rs61753180; p.G47D), c.575C>A (rs1042602; p.S192Y), and c.1205G>A (rs1126809; p.R402Q). Our results show that the correct diagnosis for the siblings is OCA1B. Conclusion Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especially in populations were the disease prevalence is higher.
TRAINEE TEACHERS’ PREFERENCES IN THE SUBJECT ‘NATURE-HUMAN-SOCIETY’: THE ROLE OF KNOWLEDGE

Field: Social Sciences (Social Sciences)

Aim: This study investigates the role of knowledge in self-concepts and interest regarding the different areas in the subject ‘Nature-human-society’ (NMG) in Switzerland’s kindergarten and primary school. The unpopularity of some specific areas inside the NMG subject among trainee teachers is known. To be exact, only a few trainee teachers enjoy teaching issues related to chemistry, technology or physics, while most of them are pleased to teach contents from the fields of sociology, biology and geography. Sophisticated findings exist for different aspects in single areas of natural and social sciences in kindergarten and primary school but not in a holistic view for NMG. Therefore, this study’s focus is broader. All areas in NMG are considered and compared. It is especially investigated whether knowledge influences trainee teachers’ interests and beliefs of their competencies in specific areas.
Kebijakan Hukum Pidana Terkait Dengan Penanganan Pengemis dan Gelandangan di Kota Lhokseumawe

Field: Social Sciences (Social Sciences)

A total of 50 beggars and homeless people have been recorded in Lhokseumawe City. This number has increased compared to the previous year, which recorded 37 beggars and homeless people. Article 34 paragraph (1) of the 1945 Constitution of the Republic of Indonesia affirms that the poor and neglected children shall be cared for by the state. In general, under Indonesia’s positive law, the activities of begging and vagrancy are classified as criminal acts. Substantively, criminal law provisions for beggars and homeless people remain necessary to address these issues in Lhokseumawe City. Based on this, the main problems are how criminal law policy regulates the handling of beggars and homeless people in Lhokseumawe City and how the implementation of criminal law enforcement is carried out against them. This research employs an empirical juridical method. The data sources consist of primary and secondary data, collected through interviews, observation, and document study, then analyzed qualitatively. The results show that there is no specific qanun (regional regulation) regarding beggars and homeless people. The existing criminal law policy still provides a legal basis for law enforcement against them. Efforts to address this issue include law enforcement, social rehabilitation, and social empowerment in accordance with Law Number 11 of 2009 and Government Regulation Number 31 of 1980. Therefore, handling beggars and homeless people can utilize provisions in the Indonesian Penal Code (KUHP), particularly Articles 504 and 505, which regulate begging and vagrancy in public places. The implementation of criminal law enforcement against beggars and homeless people in Lhokseumawe City still faces various obstacles in terms of legal structure, legal substance, and legal culture. Overall, law enforcement in this context requires regulatory reform, capacity building of law enforcement officers, and changes in the mindset of society and law enforcers to provide more effective and comprehensive solutions in addressing this issue.
Systemic Effects of Timolol

Field: Pharmacology, Toxicology and Pharmaceutics (Life Sciences)

To the Editor.—

I read the letter from Stephen A. Shaivitz, MD (242:1612, 1979), inThe Journal, titled "Timolol and Myasthenia Gravis." I was involved in some of the early clinical evaluation of timolol maleate,1and we, like most investigators at the time, found few or no side effects. However, shortly after we submitted our article, several cases of abrupt cardiac failure were reported of patients who began receiving timolol. One patient required a pacemaker. Obviously, systemic absorption takes place and can affect systemic disorders such as cardiac insufficiency and asthma. Interestingly, while timolol is a β-adrenergic blocker and lowers intraocular pressure, epinephrine, the classic β-agonist, also is used clinically to lower intraocular pressure. Furthermore, there is evidence to show that the two drugs used together have an additive effect on lowering intraocular pressure.2It is possible that the mechanisms of action of timolol are not solely as
Attempts to establish colonies of the Purple Martin in California: First success and evaluation of failures

Field: Agricultural and Biological Sciences (Life Sciences)

The Purple Martin (Progne subis), designated a species of special concern by the California Department of Fish and Wildlife, has been reported using nest boxes in California only a few times, in contrast to its extensive adoption of nest boxes in Oregon, Washington, and British Columbia and long-term use of them in eastern North America.We installed and monitored nest boxes and artificial gourds at Shelter Cove along California's northwest coast, where a substantial population of nesting martins is threatened by loss of snags.We placed three nest boxes at one nesting area in 2002, and, after the martins used two boxes in 2007, we added 15 boxes and seven gourds in groups at six other sites early in 2008.From 2008 to 2011, martins used up to 11 boxes and two gourds, as well as nesting in snags, utility poles, and buildings.We monitored their nesting success in 2008, when three of five occupied boxes successfully fledged young.We also installed boxes or advised on attempts to establish box-nesting colonies at six other sites elsewhere in northern California, none of which were successful.Reasons for failure may include too great a distance from the nearest source population, improper placement, and the martins' unfamiliarity with a novel type of nest site.Our experiment at Shelter Cove represents the first successful use of nest boxes designed and placed for Purple Martins in California and suggests boxes may be an effective tool for securing and recovering Purple Martin populations in California.
Urinary Incontinence Due to Multiple Urogenital Anomalies in a Mature Dog

Field: Veterinary (Health Sciences)

SUMMARY Urinary incontinence in a 6-year-old dog was found to be due to multiple urogenital anomalies including female pseudohermaphrodism. The urinary outflow tract was attenuated so that after the bladder was emptied, back pressure developed distal to the opening of the urethra into the vestibule and proximal to small openings in the clitoris and in an anomalous dorsal portion of the urogenital canal. This back pressure caused filling of the uterus, with subsequent gradual dripping of urine from the 2 orifices. The anomalies were corrected surgically.
Scalable Semantic Non-Markovian Simulation Proxy for Reinforcement Learning

Field: Computer Science (Physical Sciences)

Recent advances in reinforcement learning (RL) have shown much promise across a variety of applications. However, issues such as scalability, explainability, and Markovian assumptions limit its applicability in certain domains. We observe that many of these shortcomings emanate from the simulator as opposed to the RL training algorithms themselves. As such, we propose a semantic proxy for simulation based on a temporal extension to annotated logic. In comparison with two high-fidelity simulators, we show up to three orders of magnitude speed-up while preserving the quality of policy learned. In addition, we show the ability to model and leverage non-Markovian dynamics and instantaneous actions while providing an explainable trace describing the outcomes of the agent actions.
A Study of Variability Models and Languages in the Systems Software Domain

Field: Computer Science (Physical Sciences)

Variability models represent the common and variable features of products in a product line. Since the introduction of FODA in 1990, several variability modeling languages have been proposed in academia and industry, followed by hundreds of research papers on variability models and modeling. However, little is known about the practical use of such languages. We study the constructs, semantics, usage, and associated tools of two variability modeling languages, Kconfig and CDL, which are independently developed outside academia and used in large and significant software projects. We analyze 128 variability models found in 12 open--source projects using these languages. Our study 1) supports variability modeling research with empirical data on the real-world use of its flagship concepts. However, we 2) also provide requirements for concepts and mechanisms that are not commonly considered in academic techniques, and 3) challenge assumptions about size and complexity of variability models made in academic papers. These results are of interest to researchers working on variability modeling and analysis techniques and to designers of tools, such as feature dependency checkers and interactive product configurators.
Ventilatory Failure And Pulmonary Embolism In Covid-19 Requiring Enhanced Venous Drainage For Extracorporeal Membrane Oxygenation

Field: Medicine (Health Sciences)

COVID-19 infection manifests as a spectrum of respiratory and vascular complications, including acute respiratory distress syndrome (ARDS) and pulmonary embolism. Herein, we describe a case of a healthy young male who presented with ARDS refractory to mechanical ventilation and concomitant bilateral pulmonary emboli managed with extracorporeal membrane oxygenation (ECMO) and embolectomy. The embolectomy and initial veno-venous ECMO configuration failed to correct the patient’s hypoxemia despite maximal flows. This was thought to be due to a high-output state secondary to vasodilatory shock preventing adequate drainage from the existing single drainage ECMO cannulation, following which a second venous cannula was placed to form a unique veno-veno-venous ECMO circuit that resolved the persistent hypoxemia. The case underscores the importance of identifying embolic events and vasodilatory shock in COVID-19 patients, both of which need to be addressed simultaneously to avoid worsening right ventricular failure (via both mechanical and hypoxia-driven pathways) and the resulting veno-arterial ECMO along with its associated complications.
Control of Acoustical Quality of Indoor Spaces: Thorough Analysis of the Influence of Façade Typologies

Field: Engineering (Physical Sciences)

Building shape is of prime importance with regard to the acoustic aspects of achieving adequate indoor environmental quality. This paper presents experimental results obtained in a measurement programme carried out at CSTB, using reduced-scale models. The objectives were to identify the architectural forms of façades' best for noise mitigation, and to address the influence of façade architecture on indoor acoustic quality. Many façade typologies have been assessed in different situations involving combinations of structural and architectural elements, such as balustrades, balconies, loggias, etc. A systematic simulation of real configurations (buildings in front of one another, stacked or contiguous rooms, L or U buildings, etc.) contributes to developing our knowledge of sound propagation and insulation effects for improvement of urban dwellings.
Narrativas docentes de innovación educativa desde la práctica docente

Field: Social Sciences (Social Sciences)

An indisputable challenge for higher education institutions has been to incorporate educational innovation in training processes, particularly for one of the agents involved in said process, the university professor. From this, the present study has the purpose of knowing the narratives of teachers when carrying out innovation processes in their work. The theoretical support for the conception of teaching practice and its dimensions is based on what was proposed by Becerril (2001), Silva (2000), Fierroet al. (2012); and Bojalil (2006) and Cañal, 2002. regarding educational innovation. The study was carried out under the qualitative approach, the instrument to collect information was an interview script, piloted through expert judgment. Among the main findings,it was identified that teachers are clear about the implications of educational innovation in their teaching practice; however, it is not the panacea to multiple educational problems; The innovation processes that they carry out from their teaching practice favor the comprehensive training of students, mainly in the dimensions: theoretical, heuristic, axiological, critical, social and professional. Finally, the resistance to incorporating educational innovation processes is due to not sharing how the university's educational policy is executed.
Statistical Analysis of Spatio-Temporal Data Based on Poisson Conditional Autoregressive Model

Field: Mathematics (Physical Sciences)

Poisson conditional autoregressive model of spatio-temporal data is proposed. Markov property and probabilistic characteristics of this model are presented. Algorithms for maximum likelihood estimation of the model parameters are constructed. Optimal forecasting statistic minimizing probability of forecast error is given. The "plug-in" principle based on ML-estimators is used for forecasting in the case of unknown parameters. The results of computer experiments on simulated and real medical data are presented.
The Effectiveness of Evacuation Alarms in Multi-Hazard Environments

Field: Social Sciences (Social Sciences)

The aim of this thesis is to investigate the effectiveness of using specific alarms for each hazard versus the effectiveness of using a single alarm for all hazards in multi-hazard facilities. The research was conducted by disseminating online questionnaires containing audio files of different alarms to occupants of multi-hazards facilities and conducting interviews with safety experts working at multi-hazard facilities. Responses show variability concerning the perceived urgency of an alarm and what respondents associate with that alarm. Each of the alarms were perceived as both ‘not urgent’ and ‘very urgent’ at least once by different respondents, however a trend was observed, suggesting that there might be other factors affecting the perceived urgency than those identified in the literature, for example the pulse pattern. As for the meaning, it could range from a hazard (such as radiation) to a computer error or a reversing truck for the same alarm. The results also indicated that alarms that were perceived as more urgent were also more often associated to a hazard as opposed to alarms that were perceived as less urgent that were more often considered as less hazardous. Responses indicated that people having experienced a real emergency situation preferred the use of multiple alarms more than the people with no experience. Based on the responses, it is recommended that the number of alarms used at a multi-hazard facility should depend on the number of evacuation responses rather than on the number of hazards. (Less)
Noncoding RNA Expression in Myocardium From Infants With Tetralogy of Fallot

Field: Medicine (Health Sciences)

Background— The importance of noncoding RNAs (ncRNA), especially microRNAs (miRNAs), for maintaining stability in the developing vertebrate heart has recently become apparent; however, there is little known about the expression pattern of ncRNA in the human heart with developmental anomalies. Methods and Results— We examined the expression of miRNAs and small nucleolar RNAs (snoRNAs) in right ventricular myocardium from 16 infants with nonsyndromic tetralogy of Fallot (TOF) without a 22q11.2 deletion, 3 fetal heart samples, and 8 normally developing infants. We found 61 miRNAs and 135 snoRNAs to be significantly changed in expression in myocardium from children with TOF compared with normally developing comparison subjects. The pattern of ncRNA expression in TOF myocardium had a surprising resemblance to expression patterns in fetal myocardium, especially for the snoRNAs. Potential targets of miRNAs with altered expression were enriched for gene networks of importance to cardiac development. We derived a list of 229 genes known to be critical to heart development and found 44 had significantly changed expression in TOF myocardium relative to normally developing myocardium. These 44 genes had significant negative correlation with 33 miRNAs, each of which also had significantly changed expression. The primary function of snoRNAs is targeting specific nucleotides of ribosomal RNAs and spliceosomal RNAs for biochemical modification. The targeted nucleotides of the differentially expressed snoRNAs were concentrated in the 28S and 18S ribosomal RNAs and 2 spliceosomal RNAs, U2 and U6. In addition, in myocardium from children with TOF, we observed splicing variants in 51% of genes that are critical for cardiac development. Taken together, these observations suggest a link between levels of snoRNA that target spliceosomal RNAs, spliceosomal function, and heart development. Conclusions— This is the first report characterizing ncRNA expression in a congenital heart defect. The striking shift in expression of ncRNAs reflects a fundamental change in cell biology, likely impacting expression, transcript splicing, and translation of developmentally important genes and possibly contributing to the cardiac defect.
Evaluation of credit guarantee policy using propensity score

Field: Economics, Econometrics and Finance (Social Sciences)

In this article, we evaluate the effect of the credit guarantee policy by comparing a large sample of guaranteed firms and matched non-guar- anteed firms from 2000 to 2003. The sample firms are compared with respect to growth rates of different performance indicators including: productivity, sales, employment, investment, R&D, wage level, and the survival of firms in the post crisis period. In order to avoid the selectivity problem, propensity score matching methodologies are adopted. Results suggest that credit guarantees influenced significantly firms' ability to maintain their size, and increase then- survival rate, but not to increase their R&D and investment and hence, their growth in productivity. Moreover, due to the adverse selection problem, firms with lower productivity were receiving guarantees.
An Elaboration of a Cardinal Goal of Science Instruction: Scientific Thinking

Field: Arts and Humanities (Social Sciences)

Summary

In this essay I offer a set of characteristic scientific activities, accompanied by principles to be used as guides in performing these activities, and dispositions that are desirable for the person performing these activities to have. This set is intended to provide a rough and ready elaboration of scientific thinking as a goal for our schools and colleges.

Although they are here labeled scientific, they are intended to apply to other activities than doing what is standardly called science. This wider application is part of the justification for offering science in our schools and colleges. We want people to think scientifically about many other aspects of their lives, as well as about science content.

There is no suggestion that science content is not important, nor that scientific thinking should be taught apart from science content. In fact I think that a very good way to teach scientific thinking is by infusing such instruction in the instruction of science content. See Swartz (1987) for a discussion of infusion, and Ennis, (1985, 1989, 1990) for treatments of the subject-specificity issue that is generally raised when thinking and content are discussed.

This essay contains one brief case study that exemplifies most of the activities, principles, and dispositions suggested as goals for the schools. I realize that the validity and comprehensiveness of these goals has not been here demonstrated. The scientists, science educators, philosophers of science, and critical thinking specialists to whom1 have shown them are in general agreement about them, but the ultimate test will be in whether the goals are widely adopted and successfully serve as guidance in the promotion of scientific thinking.

I hope that this elaboration of scientific thinking and its formulation in terms of a suggested set of goals are “dear and precise as is needed in the situation”.
The Elderly's Perspective of the Relative importance of Pharmacy Selection Factors for Long-Term Care Facility Residents

Field: Health Professions (Health Sciences)

The objectives of this study were to: (1) determine the importance of the right to choose a pharmacy relative to other selected long-term care facility (LTCF) resident rights, (2) examine which pharmacy selection factors were most important to potential LTCF residents, and (3) assess whether differences existed between categories of respondents relating to the importance rankings of general pharmacy selection factor categories. A pretested questionnaire was mailed to an elderly population consisting of 428 residents of 4 apartment buildings for the aged and disabled. A total of 214 usable responses were included in the data analysis. Of those responding, 48% reported that the right to choose a pharmacy was one of the more important resident rights, while 40% reported that it was an average or less important right. However, almost all respondents (95%) reportedly would choose the same pharmacy they go to now if they were moving into an LTCF. The most important general pharmacy selection factor categories were pharmacist competence and accessibility of the pharmacist. Dillerences existed between categories of respondents classified by resident rights knowledge, past LTCF experience, and current prescription drug experience relating to the importance rankings of general pharmacy selection factor categories.