Miracle-dz/UniFAR-FTUs huggingface dataset:
HERV‐mediated genomic rearrangement of EYA1 in an individual with branchio‐oto‐renal syndrome

Branchio‐oto‐renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio‐oto‐renal and branchio‐otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in about 20% of these individuals. However, submicroscopic deletions and the molecular characterization of genomic rearrangements involving the EYA1 gene have rarely been reported. Using the array‐comparative genomic hybridization, we identified non‐recurrent genomic deletions including the EYA1 gene in three patients with branchio‐oto‐renal syndrome, short stature, and developmental delay. One of these deletions was mediated by two human endogenous retroviral sequence blocks, analogous to the AZFa microdeletion on Yq11, responsible for male infertility. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio‐oto‐renal syndrome. © 2010 Wiley‐Liss, Inc.
Reliable Data Aided Sparsity-Aware Approaches to Clipping Noise Estimation in OFDM Systems

In this paper, we propose reliable data aided sparsity-aware approaches to estimate and cancel the clipping noise in OFDM systems. Those are motivated by the fact that reliable data can be exploited to estimate the clipping noise in a successive interference cancellation (SIC) manner. When the clipping noise has relatively large support, a data non-aided method is not class enough to estimate the clipping noise well due to the compressed sensing (CS) based measurement shortages. Simulation results demonstrate the effectiveness of our proposed methods in estimating the clipping noise and approaching the performance with no clipping noise.
Adaptive Beamforming and Recursive DOA Estimation Using Frequency-Invariant Uniform Concentric Spherical Arrays

This paper proposes recursive adaptive beamforming and broadband 2D direction-of-arrival (DOA) estimation algorithms for uniform concentric spherical arrays (UCSAs) having nearly frequency-invariant (FI) characteristics. The basic principle of the FI-UCSA is to transform the received signals to the phase mode and remove the frequency dependency of individual phase modes through a digital beamforming network. Hence, the far-field pattern of the array is determined by a set of weights. Thanks to the FI characteristic, traditional narrowband adaptive beamforming algorithms such as minimum variance beamforming and the generalized sidelobe canceller method can be applied to the FI-UCSA. Simulation results show that the proposed adaptive FI-UCSA beamformer achieves a lower steady-state error and converges faster than the conventional tapped-delay line approach while requiring fewer adaptive coefficients. A new broadband 2-D DOA estimation algorithm using ESPRIT techniques for FI-UCSA is proposed to recursively estimate the DOAs of the moving targets. Simulation results show that the proposed DOA estimation algorithm achieves a satisfactory performance for slowly varying sources at low arithmetic complexity.
A low dropout regulator with over current reminder circuits

A low voltage, low dropout (LDO) regulator with an over current reminder circuit is proposed in this paper. Based on SMIC 0. 18µm mix signal CMOS process, the circuit is able to drive a load up to 120mA, and it can give an over current warning to the customer when the load current is over 120mA, and when the load current drops down to 110mA the warning will be recalled. By using the pole-zero tracking frequency compensation, the ripple of the output voltage between 28mV∼30mV when a current pulse draws-out from the LDO1.
Altered Growth, Hypoglycemia, Hypoalaninemia, and Ketonemia in the Young Rat: Postnatal Consequences of Intrauterine Growth Retardation

ABSTRACT: We characterized some of the consequences of intrauterine growth retardation in rat pups growth retarded [small for gestational age (SGA)] due to bilateral maternal uterine artery ligation. Pups of sham and nonoperated (normal) mothers served as controls. SGA pups had significantly reduced body and carcass mass throughout the study while body mass did not differ between sham and normal pups after 4 days. Brain mass was similar in the three groups at any age, while at 21 days and later, SGA liver weight as % body mass exceeded that of sham or normals. At 21 days, a 48-h fast reduced plasma glucose significantly in SGA compared to sham and normal pups; SGA plasma insulin was decreased and glucagon increased. Hepatic phosphoenolpyruvate carboxykinase activity and glycogen content were similar among groups. SGA pups did have significantly reduced plasma alanine and elevated betahydroxybutyrate levels. No differences in the responses to fasting occurred at 28 or 35 days. These data indicate that intrauterine growth retardation has profound effects on postnatal growth and metabolism.
Pentylenetetrazol‐induced Recurrent Seizures in Rat Pups: Time Course on Spatial Learning and Long‐term Effects

Summary: Purpose: Recurrent seizures in infants are associated with a high incidence of neurocognitive deficits. Animal models have suggested that the immature brain is less vulnerable to seizure‐induced injury than is that in adult animals. We studied the effects of recurrent neonatal seizures on cognitive tasks performed when the animals were in adolescence and adulthood.
“Applied” Aspects of the Drug Resistance Strategies Project

This paper discusses the applied aspects of our Drug Resistance Strategies Project. We argue that a new definitional distinction is needed to expand the notion of “applied” from the traditional notion of utilizing theory, which we call “applied.1,” in order to consider theory-grounded, theory testing and theory developing applied research. We label this new definition “applied.2” research. We then explain that our descriptive work describing the social processes of adolescent substance use, identity and use, and drug norms, as well as the subsequent development and dissemination of our keepin' it REAL middle school substance use curriculum are examples of “applied.1” work. In the “applied.2” realm, we include our theory testing (e.g., tests of multiculturalism, narrative and performance theories, the Focus Theory of Norms) and theory-developing (e.g., parent–child communication, cultural grounding) research as well our new directions in theory development (e.g., adaptation processes). We conclude with a call for space in the discipline for “applied.2” work that builds and tests theory through application to significant social issues that contribute to our communities. We note obstacles in departmental and scholarly norms but express optimism about the prospects for “applied.2” research in the future of communication research.
Basic study on indoor location estimation using Visible Light Communication platform

A VLC (Visible Light Communication) system using fluorescent lights has been developed for indoor guidance of the visually impaired. While it is relatively straightforward to provide generalized location information for a blind user, precise location information is much more difficult to determine. We propose that the effective data reception range and the receiver's precise location can be calculated using measured sensor angles. A series of experiments have been performed in a practical platform with 22 fluorescent lights, 39 measuring points (MP). The average distance error could reach as low as 10 cm. This development will provide greater accuracy and therefore less stress for blind users.
Reliability, Validity, and Responsiveness of the Norwegian Versions of the Maine-Seattle Back Questionnaire and the Sciatica Bothersomeness and Frequency Indices

Study Design. Cross-sectional and prospective study of patients with sciatica and disc herniation. Objective. To describe the process of translation of the Norwegian versions of the Maine Seattle Back Questionnaire (MSBQ), the Sciatica Bothersomeness Index (SBI) and the Sciatica Frequency Index (SFI), and to test the reliability, construct validity and responsiveness of these Norwegian versions. Summary of Background Data. The instruments have been validated in English only. Methods. Reliability was assessed by internal consistency (Cronbach &agr;), test-retest reliability (ICC) and measurement error (MDC and Bland and Altman’s limits of agreement). Construct validity was assessed by comparing the 3 measures with subscales of SF-36, ratings of back and leg pain, and clinical findings. Responsiveness was assessed by standardized response means and Receiver Operating Characteristic curve analyses. Results. Four hundred sixty six patients were included in the study, of whom 87 participated in the test-retest study. Completion time for the MSBQ was 1–2 minutes and 30 seconds for the SBI and the SFI, respectively. ICCs varied between 0.86 and 0.90. Cronbach &agr; was 0.74, 0.70, and 0.65 for the MSBQ, SBI, and SFI, respectively. The measurement errors constituted 26% of the total MSBQ score range, 22% of the SBI and 27% of the SFI score range. Compared to the MSBQ the 2 Sciatica Indexes discriminated better between patients with normal versus abnormal clinical findings, but correlated less strongly with pain and physical functioning. Responsiveness was assessed by 2 external criteria at 3 months, a global change score (improved vs. unchanged) and surgical treatment status (operated vs. nonoperated). All standardized response means were ≥1.3 and all AUCs ≥0.75. Differences between the 3 measures were generally small. Conclusion. The Norwegian versions of the MSBQ and the Sciatica Frequency and Bothersomeness Indexes were rapidly administered, with acceptable internal consistency, test-retest reliability, measurement error, construct validity and responsiveness.
Combining CRISPR/Cas9 mutagenesis and a small-molecule inhibitor to probe the function of MELK in cancer

The Maternal Embryonic Leucine Zipper Kinase (MELK) has been identified as a promising therapeutic target in multiple cancer types. MELK over-expression is associated with aggressive disease, and MELK has been implicated in numerous cancer-related processes, including chemotherapy resistance, stem cell renewal, and tumor growth. On the basis of these findings, a MELK inhibitor is currently being tested in several clinical trials. Here, we report that cancer cell lines harboring CRISPR/Cas9-induced null mutations in MELK exhibit wild-type growth in vitro, under environmental stress, in the presence of multiple chemotherapy agents, and in vivo. By combining our MELK-knockout clones with a recently-described, highly-specific MELK inhibitor, we further demonstrate that the acute inhibition of MELK results in no specific anti-proliferative phenotype. Analysis of gene expression data from cohorts of cancer patients identifies MELK expression as a correlate of tumor mitotic activity, explaining its association with poor clinical prognosis. In total, our results demonstrate the power of CRISPR/Cas9-based genetic approaches to investigate cancer drug targets, and call into question the rationale for treating patients with anti-MELK monotherapies.
Chemical Colitis

Chemical colitis can occur as a result of accidental contamination of endoscopes or by intentional or accidental administration of enemas containing various chemicals. Most cases have occurred after accidental contamination of endoscopes with glutaraldehyde and/or hydrogen peroxide. There have been multiple case reports of chemical colitis resulting from unintentional administration of caustic chemicals. Intentional administration of corrosive enemas has been implicated in sexual practices, bowel cleansing, or in suicide attempts. Patients present with nonspecific symptoms including abdominal pain, rectal bleeding, and/or diarrhea. As chemical colitis remains rare, the literature consists of scattered case reports and small series. Agents implicated in chemical colitis that are covered in this review include alcohol, radiocontrast agents, glutaraldehyde, formalin, ergotamine, hydrofluoric acid, sulfuric acid, acetic acid, ammonia, soap, sodium hydroxide, hydrogen peroxide, herbal medicines, chloro-m-xylenol, and potassium permanganate. Clinical, endoscopic, and histologic features are outlined for each agent in addition to the existing literature. Given the nonspecific presentation of many cases of chemically induced colitis, the diagnosis can be challenging if the pertinent history is not obtained. Most patients demonstrate the resolution of chemical-induced colitis after conservative or medical therapy. Depending on the depth and extent of injury, patients rarely require colectomy for ischemic colitis and/or peritonitis. Other postingestion complications include colonic strictures and rectovaginal fistulae. The benefits of medical therapy compared with conservative therapy are not known, as comparative clinical management trials have not been performed.
Characterization of amber mutations in bacteriophage Mu transposase: a functional analysis of the protein

We have characterized a series of amber mutations in the A gene of bacteriophage Mu encoding the phage transposase. We tested different activities of these mutant proteins either in a sup0 strain or in different sup bacteria. In conjunction with the results described in the accompanying paper by Bétermier et al. (1989) we find that the C‐terminus of the protein is not absolutely essential for global transposase function, but is essential for phage growth. Specific binding to Mu ends is defined by a more central domain. Our results also reinforce the previous findings (Bétermier et al., 1987) that more than one protein may be specified by the A gene.
Thin-film poly-SI solar cells on AIT-textured glass - importance of the rear reflector

EQE measurements were performed on thin-film poly-Si solar cells fabricated by the solid phase crystallisation method of PECVD a-Si:H (PLASMA cells). PC1D simulation showed that a SiO2/aluminium rear reflector is superior to an aluminium reflector. A promising Jsc.EQE value of 23 mA/cm2 has been obtained for a 3 microns thick PLASMA poly-Si solar cell on Aluminium-Induced Texture (AIT) textured glass having a SiO2/aluminium rear reflector.
Developing collective leadership in higher education - final report

All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording or any information storage and retrieval system, without prior permission in writing from the copywriter owner. The authors would like to acknowledge the support of the Leadership Foundation for Higher Education in funding this project. In particular we would like to thank Professor Robin Middlehurst, Ewart Wooldridge, Helen Goreham and Rob Robertson for their invaluable support and advice. We are also greatly indebted to the assistance of the leadership development managers in the 12 sample institutions although due to confidentiality agreements are unfortunately unable to name them. Without their help it would have been impossible to coordinate the extensive data collection process and their feedback on draft institutional profiles and input at two focus groups has been instrumental in the framing of the research and interpretation of findings. We would also like, of course, to thank the 12 institutions that willingly volunteered to participate in this research and the 152 people who were kind enough to spare their time to be interviewed. We hope that they found the process as interesting as we did.
Designing and enacting cross organisational business processes: a model driven, ontology-based approach

Under the pressure of globalization, companies are urged to constantly adapt to new market situations and competitors innovations. Focusing on their core business and core competencies, they engage in Cross-organisational Business Processes (CBPs) with new partners all over the world in ever changing constellations. Companies are organized into global networks and outsource those activities that can be performed more quickly and effectively or at lower costs, by others. These developments create new challenges for enterprise Information and Communication Technology (ICT), requiring ICT systems to support constantly changing enterprise collaboration relationships and to create application systems that support or automate business process enactment starting from business level descriptions and models of CBPs. Model Driven Software Development (MDSD) provides techniques to realize and automate the propagation of changes at the business level to the technical level. MDSD can be used to provide end-to-end support for the realization of business processes, from the business level (users’ view) down to deployed applications (ICT view) on specific platforms via well-defined, largely automated model transformations and refinements. However, there still exist several problems that prevent MDSD from being practically applicable for efficient and effective CBP enactment. This thesis provides contributions that enable MDSD projects to improve their possible impact on software development and the way ICT systems support business. It develops solutions to three main problems, namely for the areas of CBP modelling and enactment infrastructure, ICT architecture selection, and model and transformation evolution. The contributions of this thesis are as follows: 1. We develop architecture patterns, a code generation framework, and model transformations that facilitate the generation of executable code from high-level, domain-specific models. These artifacts help to bridge the semantic gap between domain-specific, high-level business process descriptions and the technologies used to implement them in service-oriented ICT systems. Domain and IT experts benefit since our contribution provides a set of sensible and customizable transformations they can reuse to improve the development of their ICT systems. 2. We investigate new evaluation and decision methods as well as guidelines for the selection of appropriate ICT architectures. We develop a model for decision support that helps IT architects to derive an appropriate architecture paradigm for a given use case or application domain. The decision model combines the Analytic Hierarchy Process (AHP) with scenario-based architecture evaluation techniques. Further, we describe how contingencies influence ICT system coordination architecture. Our decision method, the scenario descriptions, and a set of guidelines
CEO Turnover, Forced Chairman Replacements and Firm Performance: Case of the Costa Rican Banking System

The paper examines the effectiveness of corporate governance mechanisms in the Costa Rican banking sector, an industry characterised by fully outside boards. Using a rich data set from the Costa Rican Central Bank for the period 1999-2004, we carry out a regression analysis using the GMM technique in order to address endogeneity and firm-specific effects. The main contribution of the paper indicates that corporate governance matters for improving performance. Empirical findings indicate that investors view forced Chairman departure followed by an outsider and the appointment of an outside CEO as positive events, since these events create the conditions for organisational change leading to significant improvements in firm performance. In addition, results suggest that forced replacement of board members is an abrupt process that creates costs that outweigh its benefits.
I ♥ FB: A Q-Methodology Analysis of Why People 'Like' Facebook

Virtually seductive qualities of identity sharing, content gratification, and ample social atmosphere have made Facebook the most popular social network, boasting 890 million daily users "Facebook Reports Fourth Quarter," 2015; Joinson, 2008; Orchard et al., 2014, Reinecke et al., 2014. Online social network studies largely overlook the individual, limiting the understanding of what exactly drives people to use, abuse, even become dependent on sites like Facebook. Based on the theory of uses and gratifications, Q methodology subjectively observes what draws users to Facebook, focusing specifically on Facebook user characteristics. Past studies neglect the existence of three of the four factor groups discovered in this study, making these effectually new discoveries for academia Alloway, Runac, Quershi, & Kemp, 2014; Cheung, Chieu & Lee, 2011; Sheldon, 2008, Tosun, 2012; Yang & Brown, 2013. These findings increase understanding of online usage, even addiction, and will help cater future social networks to specific users.
Coeliac disease in patients with cerebellar ataxia of unknown origin

BACKGROUND. Neurological symptoms of unknown origin are common in coeliac disease (CD). Evidence suggests that CD may also contribute to the development of idiopathic late-onset ataxia. AIM. To evaluate the frequency of CD in patients with cerebellar ataxia of unknown origin. METHODS. The medical files of adult patients with the diagnosis of cerebellar ataxia of unknown origin (n = 44) were evaluated. Serum gliadin, endomysial, and serum tissue transglutaminase antibodies were used as screening tests for CD. Subjects with positive results were referred to small-bowel biopsy. RESULTS. The frequency of CD was as high as 9.1% in all patients. A thorough interview and review of the patient files indicated alcohol abuse as a cause for cerebellar disease in almost half (45.5%) of our patients. When the cases with alcohol abuse were omitted, the calculated frequency of CD was 16.7% in patients with ataxia of unknown origin. CONCLUSION. CD is a common association with cerebellar disease and the disease should be considered in all patients with ataxia of unknown origin.
When UUDN meets 5G waveforms: New challenge of signal linearity?

User-centric ultra-dense networking (UUDN) had been proposed for allowing ubiquitous services for end-users on the move based on well-deployed access points. In this paper, we studied a possible scenario of well-deployed user equipment/access point device (UAD) for UUDN due to its auto-deployment and crowd-oriented nature. Considering high PAPR signal of OFDM families for 5G waveform candidates, the simulation shows that the signals transmitted by UAD are distorted severely owing to its limited power and low-complexity PA. Finally, future works for improvement in such scenario are also provided.