Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease

Background/Aims: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence. Recently, causative mutations in the CLDN19 gene have been identified in FHHNC patients presenting with severe ocular involvement. The aim of the study was to investigate the molecular genetic defect underlying FHHNC in a consanguineous Pakistani family. Methods: Clinical and biochemical parameters of the proband were studied during the follow-up period over 5 years. Genotyping of 7 members of the family was performed by amplifying microsatellite markers, tightly linked to the CLDN16 and CLDN19 genes. The two genes were sequenced directly in an automated sequencer. PCR-RFLP assay and bioinformatic analysis were performed to verify the identified mutation. Results: Genotyping revealed that the proband was homozygous for the marker loci tightly linked to the CLDN19 gene. Sequence analysis in the proband revealed homozygosity for a novel missense mutation in exon 3 of the CLDN19 gene (389G>A) resulting in G130D amino acid substitution. Bioinformatic analysis supported the pathogenicity of the identified mutation. Family screening revealed nephrolithiasis in 3 of 6 (50%) heterozygous carriers of the pathogenic mutation. Conclusion: This study supports the fundamental role of claudin 19 for magnesium homeostasis, normal tubular structures in the kidney, and undisturbed organization and development of the retina.
Predicting the choice of physics in secondary education

Against a background of disappointing percentages of students choosing exact and technical studies and the academic choice research tradition, a study into the choice of physics in secondary education has been carried out. It focuses on the predictive value of certain characteristics of the curriculum, the differences between schools and the stability of the choice variable. Two cohorts of students in a representative sample of schools filled in written questionnaires, four times in two years. The data were analysed in several ways that complemented each other, including multilevel analysis. The main predictor of the choice of physics in secondary education is perceived future relevance and no significant differences between schools exist. The choice variable is not stable. Many students feel uncertain about their choice of study and profession. Academic choice processes should be more connected with career choice processes. Certain characteristics of the physics curriculum can be expected to further the possibilities for students to experience physics and physics-like contents and problems as being personally meaningful and interesting.
Collecting, Integrating, and Disseminating Patient-Reported Outcomes for Research in a Learning Healthcare System

Introduction: Advances in health policy, research, and information technology have converged to increase the electronic collection and use of patient-reported outcomes (PROs). Therefore, it is important to share lessons learned in implementing PROs in research information systems. Case Description: The purpose of this case study is to describe a novel information system for electronic PROs and lessons learned in implementing that system to support research in an academic health center. The system incorporates freely available and commercial software and involves clinical and research workflows that support the collection, transformation, and research use of PRO data. The software and processes that comprise the system serve three main functions, (i) collecting electronic PROs in clinical care, (ii) integrating PRO data with non-patient generated clinical data, and (iii) disseminating data to researchers through the institution’s research informatics infrastructure, including the i2b2 (Informatics for Integrating Biology and the Bedside) system. Strategies: Our successful design and implementation was driven by three overarching strategies. First, we selected and implemented multiple interfaced technologies to support PRO collection, management, and research use. Second, we aimed to use standardized approaches to measuring PROs, sending PROs between systems, and disseminating PROs. Finally, we focused on using technologies and processes that aligned with existing clinical research information management strategies within our organization. Conclusion: These experiences and lessons may help future implementers and researchers enhance the scale and sustainable use of systems for research use of PROs.
BER performance analysis of PIN photodiode in 10Gbps fiber optical communication

In this report, the performance analysis of 10Gbps optical receiver for fiber optical link is presented. Non-Return to Zero (NRZ) electrical signals from a Pseudo-Random Bit Sequence (PRBS) Generator are used as modulation input. Signals in the optical domain are detected at the PIN photodiode (PIN-PD) and are converted into electrical output signals. These electrical signals are filtered through a low pass bessel filter. Effects of bandwidth and thermal noise of receiver on the link performance are studied in detail. For the 10Gbps fiber optical communication, a Q factor of 6.55 and the BER of 5.23E¿11 are observed for the worstcase, when the receiver is operated at 100°C. it is shown that BER heavily depends on thermal noise. The relation between the receiver sensitivity and the thermal noise is also investigated.
Molecular architecture of chemoreceptor arrays revealed by cryoelectron tomography of Escherichia coli minicells

The chemoreceptors of Escherichia coli localize to the cell poles and form a highly ordered array in concert with the CheA kinase and the CheW coupling factor. However, a high-resolution structure of the array has been lacking, and the molecular basis of array assembly has thus remained elusive. Here, we use cryoelectron tomography of flagellated E. coli minicells to derive a 3D map of the intact array. Docking of high-resolution structures into the 3D map provides a model of the core signaling complex, in which a CheA/CheW dimer bridges two adjacent receptor trimers via multiple hydrophobic interactions. A further, hitherto unknown, hydrophobic interaction between CheW and the homologous P5 domain of CheA in an adjacent core complex connects the complexes into an extended array. This architecture provides a structural basis for array formation and could explain the high sensitivity and cooperativity of chemotaxis signaling in E. coli.
Radiofrequency tissue volume reduction: multilesion vs single-lesion treatments for snoring.

OBJECTIVE To compare the safety and efficacy of single-lesion and multilesion radiofrequency tissue reduction (RFTR) of the soft palate for the treatment of snoring. DESIGN Prospective, nonrandomized clinical trial. SETTING University hospital outpatient clinic. PATIENTS Nonrandomized patients undergoing RFTR to treat socially unacceptable snoring. Of 47 patients, 16 received single-lesion treatments and 31 received multilesion treatments. INTERVENTION Soft-palate RFTR was performed using a radiofrequency generator. Patients required 1 to 3 treatments based on improvement or withdrawal from the study, and each received 1, 3, or 4 lesions per treatment. Patients who received single-lesion therapy did not cross over into the multilesion group; however, 5 patients in the multilesion group received 4-lesion therapy after a treatment with 3 lesions. MAIN OUTCOME MEASURES Outcome measures were determined using visual analog scale questionnaires assessing level of snoring (snoring index) and level of pain (pain index) associated with the procedure. Adverse events and complications during treatment were cataloged. Data were collected before the procedure, 6 weeks after each treatment, and an average of 16 months after the last procedure. RESULTS Single-lesion and multilesion groups showed significant improvement in snoring after RFTR treatments (P<.01 for both). However, compared with the single-lesion group, the multilesion group required fewer treatments (1.94 vs 2.38; P =.05) and was more than twice as likely to be cured after 2 treatments (61% vs 25%; P =.02). A trend toward improved clinical outcomes with increased number of lesions and total energy per treatment was observed when patients treated with 1, 3, or 4 lesions were compared. The 4-lesion group had the most pronounced improvement in snoring index score per treatment, the lowest number of treatments required for cure, and the greatest percentage of patients cured after 2 treatment sessions. Follow-up demonstrated minimal relapse of snoring in the multilesion group at a mean of 16 months. Although there was a statistically significant increase in pain in the multilesion group vs the single-lesion group, this increase did not increase narcotic use or time off work and was considered minimal by reporting patients. CONCLUSION Multilesion RFTR using higher energy levels per treatment is safe and has increased efficacy without increased complications relative to single-lesion therapy.
Chemotactic behavior of Campylobacter jejuni

The chemotactic behavior of Campylobacter jejuni was determined in the presence of different amino acids, carbohydrates, organic acids, and preparations and constituents of mucin and bile. L-Fucose was the only carbohydrate and L-aspartate, L-cysteine, L-glutamate, and L-serine were the only amino acids producing a chemotactic (positive) response. Several salts of organic acids, including pyruvate, succinate, fumarate, citrate, malate, and alpha-ketoglutarate, were also chemoattractants, as were bile (beef, chicken, and oxgall) and mucin (bovine gallbladder and hog gastric). Most constituents of bile tested individually were chemorepellents, but the mucin component was chemoattractant. The chemotactic behavior of C. jejuni toward L-fucose, a constituent of both bile and mucin, may be an important factor in the affinity of the organism for the gallbladder and intestinal tract.
Are flood victims more concerned about climate change than other people? The role of direct experience in risk perception and behavioural response

Climate change is a threat to human health and life, both now and in the future. Despite this, studies show that the public typically do not consider the issue a priority concern or a direct, personal threat. Furthermore, few are taking any preventive or protective action. Previous studies identify direct experience as a major influence on risk perception, learning and action. Drawing on such evidence, this paper focuses on the intangibility of climate change as a key impediment to personal engagement and explores whether relevant experiences of flooding and air pollution influence individuals' knowledge, attitudes, risk perception and behavioural responses to climate change. Perhaps surprisingly, interviews and a survey conducted in the south of England indicate flood victims differ very little from other participants in their understanding of and responses to climate change, but that experience of air pollution does significantly affect perceptions of and behavioural responses to climate change. Air pollution victims are no more likely to cite pollution as a cause of climate change than non‐victims; but they do have higher pro‐environmental values. Respondents with these values are significantly more likely to consider climate change a salient risk and to take action in response to it. Therefore the relationship between air pollution experience and responses to climate change may be indirect and mediated by environmental values. The paper concludes by highlighting implications of this research for developing climate change policies and strategies for public engagement.
Validity Issues in Assessing Linguistic Minorities

Throughout the world, tests are administered to some examinees who are not fully proficient in the language in which they are being tested. It has long been acknowledged that proficiency in the language in which a test is administered often affects examinees’ performance on a test. Depending on the context and intended uses for a particular assessment, linguistic proficiency may be relevant to the tested construct and subsequent interpretations, or may be a source of construct-irrelevant variance that undermines accurate interpretation of the test performance of linguistic minorities who are not proficient in the language of the assessment. In this article, we highlight key validity issues to be considered when testing linguistic minorities, regardless of whether language is central or construct-irrelevant. We discuss examples of the different types of studies test users and developers could conduct to evaluate the validity of scores of linguistic minorities. These issues span test development and validation activities. We conclude with a list of critical factors to consider in test development and evaluation whenever linguistic minorities are tested.
The Context of Anti-Gay Violence

Hate crimes against lesbians and gay men occur within a broader cultural context that is permeated by heterosexism. Heterosexism is defined here as an ideological system that denies, denigrates, and stigmatizes any nonheterosexual form of behavior, identity, relationship, or community. It operates principally by rendering homosexuality invisible and, when this fails, by trivializing, repressing, or stigmatizing it. This article focuses upon the nexus between cultural heterosexism and individual prejudice against lesbians and gay men. Key components of the ideologies of sex and gender from which heterosexism derives are identified: (a) the personal-public dichotomy, (b) the stigmatization of particular forms of sexuality, and (c) the linkage of heterosexuality to gender-role conformity. Supported by these ideological underpinnings, cultural heterosexism fosters individual anti-gay attitudes by providing a ready-made system of values and stereotypical beliefs that justify such prejudice as “natural. ” By imbuing homosexuality with a variety of symbolic meanings, cultural heterosexism enables expressions of individual prejudice to serve various psychological functions. Further, by discouraging lesbians and gay men from coming out to others, heterosexism perpetuates itself. Recent social trends that may affect the ideology of heterosexism are identified, and their potential for reducing anti-gay prejudice is discussed.
STRATEGY AND STRUCTURAL ADJUSTMENT TO REGAIN FIT AND PERFORMANCE: IN DEFENCE OF CONTINGENCY THEORY

Comparative, contingency approaches to organization structure have been criticized as being inherently static. The present article argues that functionalist theories and quantitative methods can explain structural change. This is exemplified by a diachronic enquiry into strategy and structure. Several propositions about organizational dynamics relating diversification, reorganization and performance are supported. However, the notion of contingency adjustment to structure to attain match as a frequent alternative to structural adjustment to contingencies is not borne out. Neither of the two prevailing theories of structural change, ‘contingency determinism’nor ‘strategic choice’, is completely adequate and a third formulation is advanced: that of ‘structural adjustment to regain fit’. While structural-functional enquiry into organizations using comparative quantitative methods has yielded information about structural statics, the contribution to knowledge of dynamics seems more problematic. This article seeks to record that structural-functionalism does inform the analysis of organizational change and to show that quantitative contingency approaches can illuminate change if the theory used in the analysis is formalized properly. This involves the partial abandonment of both of the main prevailing theories of structural change: contingency determinism and strategic choice. In their place this article offers as a potentially more fruitful model the structural adaptation to regain fit formulation. Within this the role of performance is shown to be important. The advantage of this framework is demonstrated empirically by means of an examination of the relationship between strategy and structure.
Containment of Data Graph Queries

The graph database model is currently one of the most popular paradigms for storing data, used in applications such as social networks, biological databases and the Semantic Web. Despite the popularity of this model, the development of graph database management systems is still in its infancy, and there are several fundamental issues regarding graph databases that are not fully understood. Indeed, while graph query languages that concentrate on topological properties are now well developed, not much is known about languages that can query both the topology of graphs and their underlying data. Our goal is to conduct a detailed study of static analysis problems for such languages. In this paper we consider the containment problem for several recently proposed classes of queries that manipulate both topology and data: regular queries with memory, regular queries with data tests, and graph XPath. Our results show that the problem is in general undecidable for all of these classes. However, by allowing only positive data comparisons we nd natural fragments that enjoy much better static analysis properties: the containment problem is decidable, and its computational complexity ranges from PSPACE-complete to EXPSPACEcomplete. We also propose extensions of regular queries with an inverse operator, and study query evaluation and query containment for them.
The Electronic Monitoring of Offenders Released from Jail or Prison: Safety, Control, and Comparisons to the Incarceration Experience

A number of concerns have surfaced about the use of electronic monitoring as a sanction since its inception in 1984. Research into these concerns has examined the sanction’s breadth, pitfalls, and successes. This research focuses on the way electronically monitored offenders define various issues about the sanction. Results suggest that offenders do not necessarily see the sanction in ways that are consistent with the portrayal of the sanction in the literature and the media. Implications are provided.
Practice parameter Atopic dermatitis : A practice parameter update 2012

This parameter was developed by the Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology (AAAAI); the American College of Allergy, Asthma & Immunology (ACAAI); and the Joint Council of Allergy, Asthma and Immunology. The AAAAI and the ACAAI have jointly accepted responsibility for establishing ‘‘Atopic dermatitis: a practice parameter update 2012. ’’ This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion. Published practice parameters of the Joint Task Force on
Initiation and spread of escape waves within animal groups

The exceptional reactivity of animal collectives to predatory attacks is thought to be owing to rapid, but local, transfer of information between group members. These groups turn together in unison and produce escape waves. However, it is not clear how escape waves are created from local interactions, nor is it understood how these patterns are shaped by natural selection. By startling schools of fish with a simulated attack in an experimental arena, we demonstrate that changes in the direction and speed by a small percentage of individuals that detect the danger initiate an escape wave. This escape wave consists of a densely packed band of individuals that causes other school members to change direction. In the majority of cases, this wave passes through the entire group. We use a simulation model to demonstrate that this mechanism can, through local interactions alone, produce arbitrarily large escape waves. In the model, when we set the group density to that seen in real fish schools, we find that the risk to the members at the edge of the group is roughly equal to the risk of those within the group. Our experiments and modelling results provide a plausible explanation for how escape waves propagate in nature without centralized control.
Discrete Regularization for Perceptual Image Segmentation via Semi-Supervised Learning and Optimal Control

In this paper, we present a regularization approach on discrete graph spaces for perceptual image segmentation via semi-supervised learning. In this approach, first, a spectral clustering method is embedded and extended into regularization on discrete graph spaces. In consequence, the spectral graph clustering is optimized and smoothed by integrating top-down and bottom-up processes via semi-supervised learning. Second, a designed nonlinear diffusion filter is used to maintain semi-supervised learning, labeling and differences between foreground or background regions. Furthermore, the spectral segmentation is penalized and adjusted using labeling prior and optimal window-based affinity functions in a regularization framework on discrete graph spaces. Experiments show that the algorithm achieves perceptual and optimal image segmentation. The algorithm is robust in that it can handle images that are formed in variational environments.
A novel putative M9.2 isoform of V-ATPase expressed in the nervous system

We have identified a cDNA encoding a novel putative neuron-specific isoform of vacuolar proton-translocating ATPase (V-ATPase), NM9.2, from rat and mouse. Sequence analysis revealed that NM9.2 conserved similar characteristic amino acid sequences with 60–70% identity to M9.2 previously isolated from V-ATPase in chromaffin granules. Using Northern blot analysis, NM9.2 mRNA was specifically detected in the brain, whereas M9.2 mRNA was widely expressed in various tissues. In situ hybridization showed that NM9.2 gene expression was restricted mainly to neuronal cells and consistent with that of the a1/Ac116 subunit of V-ATPase. NM9.2 is a putative neuronal isoform of the 9.2 kDa subunit in V-ATPase.