Miracle-dz/UniFAR-FTUs huggingface dataset:
Genotype‐phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen‐Tawil syndrome

Andersen‐Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been identified in patients with ATS. We aimed to clarify the genotype‐phenotype correlations in ATS patients. We screened 23 clinically diagnosed ATS patients from 13 unrelated Japanese families. Ten different forms of KCNJ2 mutations were identified in the 23 ATS patients included in this study. Their ECGs showed normal QTc intervals and abnormal U waves with QUc prolongation and a variety of ventricular arrhythmias. Especially, bidirectional ventricular tachycardia (VT) was observed in 13 of 23 patients (57%). Periodic paralysis was seen in 13 of 23 carriers (57%), dysmorphic features in 17 (74%), and seizures during infancy in 4 (17%). Functional assays for the two novel KCNJ2 mutations (c. 200G>A (p. R67Q) and c. 436G>A (p. G146S)) displayed no functional inward rectifying currents in a heterologous expression system and showed strong dominant negative effects when co‐expressed with wild‐type KCNJ2 channels (91% and 84% reduction at –50 mV respectively compared to wild‐type alone). Immunocytochemistry and confocal imaging revealed normal trafficking for mutant channels. In our study, all of the clinically diagnosed ATS patients had KCNJ2 mutations and showed a high penetrance with regard to the typical cardiac phenotypes: predominant U wave and ventricular arrhythmias, typically bidirectional VT. © 2007 Wiley‐Liss, Inc.
Face photo-sketch recognition using local and global texture descriptors

The automated matching of mug-shot photographs with sketches drawn using eyewitness descriptions of criminals is a problem that has received much attention in recent years. However, most algorithms have been evaluated either on small datasets or using sketches that closely resemble the corresponding photos. In this paper, a method which extracts Multi-scale Local Binary Pattern (MLBP) descriptors from overlapping patches of log-Gabor-filtered images is used to obtain cross-modality templates for each photo and sketch. The Spearman Rank-Order Correlation Coefficient (SROCC) is then used for template matching. Log-Gabor filtering and MLBP provide global and local texture information, respectively, whose combination is shown to be beneficial for face photo-sketch recognition. Experimental results with a large database show that the proposed approach outperforms state-of-the-art methods, with a Rank-1 retrieval rate of 81.4%. Fusion with the intra-modality approach Eigenpatches improves the Rank-1 rate to 85.5%.
Serrated polyposis: rapid and relentless development of colorectal neoplasia

Objective Serrated (hyperplastic) polyposis (SP) is a rare disorder with multiple colorectal hyperplastic polyps and often sessile serrated adenomas/polyps (SSA/P) or adenomas. Although associated with colorectal cancer, the course of SP is not well described. Design 44 patients with SP were studied. The results of 146 colonoscopies with median follow-up of 2.0 years (range 0–30) and a median of 1.0 years (range 0.5–6) between surveillance colonoscopies were evaluated. Findings from oesophogastroduodenoscopy examinations were analysed. Results The mean age at diagnosis of SP was 52.5±11.9 years (range 22–78). In two pedigrees (5%) another family member had SP. None of 22 patients had gastroduodenal polyps. All patients had additional colorectal polyps at surveillance colonoscopy. SSA/P or adenomas were found in 25 patients (61%) at first colonoscopy and 83% at last colonoscopy. Recurrent SSA/P or adenomas occurred in 68% of patients at surveillance colonoscopy. Three patients had colorectal cancer. Eleven patients (25%) underwent surgery (mean time from diagnosis of SP 2.0±0.9 years). After surgery all seven surveyed patients developed recurrent polyps in the retained colorectum (4/7 had SSA/P or adenomas). No association was found between colorectal neoplasia and sex, age at diagnosis of SP or initial number of colorectal polyps. Conclusions In SP, rapid and unrelenting colorectal neoplasia development continues in the intact colorectum and retained segment after surgery. These findings support the possibility of annual colonoscopic surveillance, consideration for colectomy when SSA/P or adenomas are encountered and frequent postoperative endoscopic surveillance of the retained colorectum.
METACOGNITION AND ITS CORRELATES: A STUDY

The present study attempts to investigate correlates of metacognition of undergraduate students. The study explored the relationship of metacognition of undergraduate students with demographic variables like gender, place of living, academic achievement and parents’ education. The study was conducted on the sample of 313 undergraduate students of Aligarh District. The metacognitive inventory (MCI) developed by Dr. Punita Govil (1) has been used as a measure of metacognition of students. ‘t’ test and analysis of variance have been employed to analyze the data. The findings of the study reveal that gender has no significant impact on the metacognition of undergraduate students on the other hand the metacognitive level of urban students differs significantly from their rural counterparts. The high and low achieving undergraduate students differ significantly on their metacognitive level. Moreover, fathers’ educational qualification found to have no significant impact on metacognition of the students under study while mothers’ education has significant impact on it. This study suggests learners to understand and regulate their own thinking process to resolve the real life complexities. Further the present study also recommends some strategies for parents and teachers to facilitate learning among students at college level.
Architecture of the ring formed by the tubulin homologue FtsZ in bacterial cell division

Membrane constriction is a prerequisite for cell division. The most common membrane constriction system in prokaryotes is based on the tubulin homologue FtsZ, whose filaments in E. coli are anchored to the membrane by FtsA and enable the formation of the Z-ring and divisome. The precise architecture of the FtsZ ring has remained enigmatic. In this study, we report three-dimensional arrangements of FtsZ and FtsA filaments in C. crescentus and E. coli cells and inside constricting liposomes by means of electron cryomicroscopy and cryotomography. In vivo and in vitro, the Z-ring is composed of a small, single-layered band of filaments parallel to the membrane, creating a continuous ring through lateral filament contacts. Visualisation of the in vitro reconstituted constrictions as well as a complete tracing of the helical paths of the filaments with a molecular model favour a mechanism of FtsZ-based membrane constriction that is likely to be accompanied by filament sliding. DOI: http://dx.doi. org/10.7554/eLife.04601. 001
Endothelial Cells Secrete Triglyceride Lipase and Phospholipase Activities in Response to Cytokines as a Result of Endothelial Lipase

Abstract— The endothelium interacts extensively with lipids and lipoproteins, but there are very few data regarding the ability of endothelial cells to secrete lipases. In this study, we investigated the ability of endothelial cells to secrete the triglyceride lipase and phospholipase activities characteristic of endothelial lipase (EL), a recently described member of the triglyceride lipase gene family. No lipase activities were detected under basal conditions, but treatment with cytokines significantly stimulated the expression of both activities. Using antibodies to EL, we determined that both activities were primarily a result of this enzyme. In addition to the increase in lipolytic activity, cytokine treatment was demonstrated to substantially upregulate EL protein and EL mRNA in a dose-dependent manner. Cytokines did not change EL mRNA stability. Both new protein synthesis and activation of NF-&kgr;B influenced the induction of EL by cytokines, suggesting that multiple pathways contribute to this process. The upregulation of EL by cytokines is in sharp contrast to the downregulation by cytokines of the other two major members of this gene family, lipoprotein lipase and hepatic lipase, and has implications for the physiological role of EL in inflammatory conditions and its potential role in the modulation of lipoprotein metabolism during inflammatory conditions, including atherosclerosis.
Updated Mortality Study of Workers at a Petroleum Refinery in Torrance, California, 1959 to 1997

The updated cohort consisted of 3328 workers who were employed at the Mobil (now ExxonMobil) Torrance, California, refinery for at least 1 year between 1959 and 1997. The vital status of the cohort was determined through a variety of sources, including company employment or retirement records, the Social Security Administration’s Death Master File, and the National Death Index. The updated study covered an observation period of 38 years from 1960 to 1997, with a total of 60,612 person-years of observation. A total of 705 (21.2%) cohort members were identified as having died. Mortality data were analyzed in terms of cause-specific standardized mortality ratios (SMRs) and 95% confidence intervals (95% CIs), with expected deaths based on US national cause-, gender-, race-, year-, and age-specific mortality rates. The overall mortality of the cohort was significantly lower than expected when compared with the US general population (SMR, 81.9; 95% CI, 76.0 to 88.2). Overall cancer mortality was also lower than expected (SMR, 79.8; 95% CI, 67.9 to 93.1). For specific cancer sites, significant mortality deficits were observed for cancer of the digestive system (SMR, 70.9; 95% CI, 49.4 to 98.6) and cancer of the respiratory system (SMR, 74.1; 95% CI, 55.5 to 97.0). No significant increase was reported for any site-specific cancer. For nonmalignant diseases, no significant increase was observed for any cause. In particular, significant mortality deficits were reported for ischemic heart disease (SMR, 87.7; 95% CI, 77.2 to 99.3), chronic endocardial disease and other myocardial insufficiencies (SMR, 8.3; 95% CI, 0.2 to 46.0), all other heart disease (SMR, 64.2; 95% CI, 43.0 to 92.2), and influenza and pneumonia (SMR, 59.2; 95% CI, 33.1 to 97.6). Detailed analysis by length of employment did not reveal any significant mortality excess or upward trend. Analyses of male employees by job classification (process and maintenance) were conducted. Among maintenance workers, mortality from cirrhosis of the liver (SMR, 190.1; 95% CI, 101.2 to 325.1) and suicide (SMR, 208.6; 95% CI, 111.1 to 356.7) were significantly elevated. However, these mortality excesses did not seem to be related to employment at the refinery. No other causes of death showed significant increase among maintenance workers. A similar separate analysis was conducted for process workers, and no significant excess was detected for any cause. The findings from the present study are discussed in conjunction with results from previous investigations of employees at the Torrance refinery and with results from other refinery studies. Potential limitations of the study are also discussed.
The ionization fraction gradient across the Horsehead edge: an archetype for molecular clouds

Context. The ionization fraction (i.e., the electron abundance) plays a key role in the chemistry and dynamics of molecular clouds. Aims. We study the H 13 CO + ,D CO + and HOC + line emission towards the Horsehead, from the shielded core to the UV irradiated cloud edge, i.e., the photodissociation region (PDR), as a template to investigate the ionization fraction gradient in molecular clouds. Methods. We analyze an IRAM Plateau de Bure Interferometer map of the H 13 CO + J = 1–0 line at a 6.8 �� × 4.7 �� resolution, complemented with IRAM-30 m H 13 CO + and DCO + higher-J line maps and new HOC + and CO + observations. We compare self-consistently the observed spatial distribution and line intensities with detailed depth-dependent predictions of a PDR model coupled with a nonlocal radiative transfer calculation. The chemical network includes deuterated species, 13 C fractionation reactions and HCO + /HOC + isomerization reactions. The role of neutral and charged PAHs in the cloud chemistry and ionization balance is investigated. Results. The detection of the HOC + reactive ion towards the Horsehead PDR proves the high ionization fraction of the outer UV irradiated regions, where we derive a low [HCO + ]/[HOC + ] � 75–200 abundance ratio. In the absence of PAHs, we reproduce the observations with gas-phase metal abundances, [Fe+Mg+. ], lower than 4 × 10 −9 (with respect to H), and a cosmic-ray ionization rate of ζ = (5 ± 3) × 10 −17 s −1 . The inclusion of PAHs modifies the ionization fraction gradient and increases the required metal abundance. Conclusions. The ionization fraction in the Horsehead edge follows a steep gradient, with a scale length of ∼0.05 pc (or ∼25 �� ), from [e − ] � 10 −4 (or ne ∼ 1–5 cm −3 )i n the PDR to af ew times∼10 −9 in the core. PAH − anions play a role in the charge balance of the cold and neutral gas if substantial amounts of free PAHs are present ([PAH] > 10 −8 ).
Quantum random-walk search algorithm

Quantum random walks on graphs have been shown to display many interesting properties, including exponentially fast hitting times when compared with their classical counterparts. However, it is still unclear how to use these novel properties to gain an algorithmic speedup over classical algorithms. In this paper, we present a quantum search algorithm based on the quantum random-walk architecture that provides such a speedup. It will be shown that this algorithm performs an oracle search on a database of N items with $O(\sqrt{N})$ calls to the oracle, yielding a speedup similar to other quantum search algorithms. It appears that the quantum random-walk formulation has considerable flexibility, presenting interesting opportunities for development of other, possibly novel quantum algorithms.
Colorado Tick Fever. A review of 115 laboratory confirmed cases.

When the clinical and epidemiologic features of 115 laboratory confirmed cases of Colorado Tick Fever (CTF) were reviewed, comparison of the initial clinical impression with virus isolations and serologic results revealed that physicians frequently mistook CTF for Rocky Mountain Spotted Fever (RMSF). Analysis of selected clinical data showed that biphasic fever, a highly specific feature of CTF, was seen in 48% of cases. Rash was seen in 12% and was faint, transient, and inconsistent in distribution in contrast with the progressive, specifically distributed rash of RMSF. Although the course of these two illnesses can be readily distinguished, their similar onset may account for the high frequency of misdiagnosis. Three patients had central nervous system disease associated with CTF, similar to eight other cases found in the literature.
Design, Validation, and Application of a Seven-Strain Staphylococcus aureus PCR Product Microarray for Comparative Genomics

ABSTRACT Bacterial comparative genomics has been revolutionized by microarrays, but the power of any microarray is dependent on the number and diversity of gene reporters it contains. Staphylococcus aureus is an important human pathogen causing a wide range of invasive and toxin-mediated diseases, and more than 20% of the genome of any isolate consists of variable genes. Seven whole-genome sequences of S. aureus are available, and we exploited this rare opportunity to design, build, and validate a comprehensive, nonredundant PCR product microarray carrying reporters that represent every predicted open reading frame (3,623 probes). Such a comprehensive microarray necessitated a novel design strategy. Validation with the seven sequenced strains showed correct identification of 93.9% of genes present or absent/divergent but was dependent on the method of analysis chosen. Microarray data were highly reproducible, reducing the need for many replicate slides. Interpretation of microarray data was enhanced by focusing on the major areas of variation—the presence or absence of mobile genetic elements (MGEs). We compiled “composite genomes” of every individual MGE and visualized their distribution. This allowed the sensitive discrimination of related isolates, including the first clear description of how isolates of the same clone of epidemic methicillin-resistant S. aureus differ substantially in their carriage of MGEs. These MGEs carry virulence and resistance genes, suggesting differences in pathogenic potential. The novel methods of design and interpretation of data generated from this microarray will enable further studies of S. aureus evolution, epidemiology, and pathogenesis.
Doctors talking to patients: A study of the verbal behaviour of general practitioners consulting in their surgeries

Studying the verbal behavior and patterns of general practitioners consultation skills in Britain are the focus of this report. Chapters 1 and 2 provide the rationale for the study and give an overview of doctors behavior in consultation with patients. The structure of the consultation with in-depth analyses of behavioral phases verbal behaviors and relating skills are then examined. Specific behaviors such as forms of questioning telling encouraging using silence and dysfunctional openings are reviewed. Chapter 6 examines the interactive skills of summarizing reassuring directing probing seeking out and using patient ideas and termination issues. These skills are presented with positive examples of consultation interactions. The problems encountered when consultation interactions are dysfunctional are also examined. Doctors negativity as a factor in dysfunctional interaction is discussed. Chapters 9 10 and 11 attempt to group items of behavior and identify behaviors which lead to decision making by the doctor. Several styles of decision making behavior and the way those styles relate to patient interaction are included in these chapters. Consultation behaviors are broken down into phases and further analysis of these behaviors is provided which also affords a method of identifying basic styles of interaction. The final chapter offers methods of measuring consulting styles. Checklists with score values for each area of consultation interaction--style diagnostic and prescriptive--are reproduced in this section. The concluding section explains the advantages of using the style behavior and interactive skills outlined in this book to achieve greater effectiveness for patients and greater job satisfaction for the physician.
Advancement in nanotechnology-based approaches for the treatment and diagnosis of hypercholesterolemia

Abstract Cardiovascular diseases have been the major cause of mortality and morbidity all over the world accounting for more than 80% of the deaths from heart attacks and strokes. Hypercholesterolemia, an autosomal disorder of lipoprotein metabolism is one of the foremost causes of CVDs. An increased level of low-density lipoprotein cholesterol (LDL-C) in the plasma results in the rise of incidence rates in disease patients. Several conventional and combinational therapies have been proposed for lowering the LDL-C levels in the blood. These therapeutic agents are designed to target some crucial molecules that participates in the lipid metabolism such as apolipoprotein B, HMGCoA reductase, proprotein convertase subtilisin/kexin 9, etc. Although these therapies are effective but are associated with certain side effects. This article presents an overview on different conventional and nanotechnology-based approaches for the treatment and diagnosis of hypercholesterolemia. Numerous nanomaterial-based therapies including polymeric nanoparticles, cationic lipids, liposomes, dendrimers and inorganic nanoparticles have been discussed in lowering the cholesterol level along with recent advancement in diagnosis and imaging.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing algorithms, especially in light of molecular diagnostic follow-up to universal newborn hearing screening.Methods: Mutation types, frequencies, ethnic distributions, and genotype-phenotype correlations for GJB2 and GJB6 were assessed in a very large North American cohort.Results: GJB2 variants were identified in 1796 (24.3%) of the 7401 individuals examined, with 399 (5.4%) homozygous and 429 (5.8%) compound heterozygous. GJB6 deletion testing was performed in 12.0% (888/7401) of all cases. The >300-kb deletion was identified in only nine individuals (1.0%), all of whom were compound heterozygous for mutations in GJB2 and GJB6. Among a total of 139 GJB2 variants identified, 53 (38.1%) were previously unreported, presumably representing novel pathogenic or benign variants.Conclusions: The frequency and distribution of sequence changes in GJB2 and GJB6 in North America differ from those previously reported, suggesting a considerable role for loci other than GJB2 and GJB6 in the etiology of autosomal recessive nonsyndromic sensorineural hearing loss, with minimal prevalence of the GJB6 deletion.
The Handbook of Transformative Learning: Theory, Research, and Practice

The leading resource for the field, this handbook provides a comprehensive and critical review of more than three decades of theory development, research, and practice in transformative learning. The starting place for understanding and fostering transformative learning, as well as diving deeper, the volume distinguishes transformative learning from other forms of learning, explores future perspectives, and is designed for scholars, students, and practitioners.
Psychological factors on irrational financial decision making: Case of day-of-the week anomaly

Purpose - This research aims to explore and explain the determinants of irrational financial decision making, especially the day-of-the week anomaly, by using psychological approach. Design/methodology/approach - As it is a conceptual paper, this research explores the psychological biases literature and links it to the day-of-the week anomaly. Using Ellis' ABC (Activating Event, Belief, and Consequences) Model, the authors survey and classify the stimulant as the occasion that stimulates the psychological biases of investors, and these psychological biases will bring a consequence in behaviour which is irrationality in weekend effect. Findings - Adopting Ellis' ABC model, the paper constructs a theoretical framework that link the psychological biases and day-of-the week anomaly. The theoretical model is also given as a proposed model for future empirical research. Research limitations/implications - This paper contributes to research by giving the theoretical model and its framework. The latter, future research can examine the proposed psychological biases as the determinant of day-of-the week anomaly empirically. Originality/value - This paper conceptually builds a framework and derives a proposed equation model linking the psychological biases (weather, moon, attention bias, heuristic bias, regret, and cognitive bias) to the day-of-the week anomaly.
Consumer Rapport to Luxury: Analyzing Complex and Ambivalent Attitudes

The very nature of luxury goods, the variety of consumption situations and the everlasting philosophical debate over luxury lead to particularly complex and ambivalent consumer attitudes, as evidenced by a first study based on the content analysis of in-depth interviews. A second study, based on surveys in twenty countries using finite mixture modeling, identifies three types of consumer rapport to luxury.