Miracle-dz/UniFAR-FTUs huggingface dataset:
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2‐negatively tested breast cancer patients

Hereditary breast cancer comprises a minor but clinically meaningful breast cancer (BC) subgroup. Mutations in the major BC‐susceptibility genes are important prognostic and predictive markers; however, their carriers represent only 25% of high‐risk BC patients. To further characterize variants influencing BC risk, we performed SOLiD sequencing of 581 genes in 325 BC patients (negatively tested in previous BRCA1/BRCA2/PALB2 analyses). In 105 (32%) patients, we identified and confirmed 127 truncating variants (89 unique; nonsense, frameshift indels, and splice site), 19 patients harbored more than one truncation. Forty‐six (36 unique) truncating variants in 25 DNA repair genes were found in 41 (12%) patients, including 16 variants in the Fanconi anemia (FA) genes. The most frequent variant in FA genes was c. 1096_1099dupATTA in FANCL that also show a borderline association with increased BC risk in subsequent analysis of enlarged groups of BC patients and controls. Another 81 (53 unique) truncating variants were identified in 48 non‐DNA repair genes in 74 patients (23%) including 16 patients carrying variants in genes coding proteins of estrogen metabolism/signaling. Our results highlight the importance of mutations in the FA genes' family, and indicate that estrogen metabolism genes may reveal a novel candidate genetic component for BC susceptibility.
Working memory and short-term sentence recall in young children

The primary objective of this study was to investigate links between phonological memory and short-term sentence recall. Errors in immediate sentence recall were compared for children with relatively good and relatively poor phonological short-term memory skills, matched on general nonverbal ability. The results indicate marked differences in the overall accuracy of recall between the two groups, with the high phonological memory group making fewer errors in sentence recall. Although the frequency of the different types of errors (lexical substitutions and nonsubstitutions) differed significantly between the groups, the serial position profiles of sentence recall accuracy was similar. Both groups were also more likely to substitute target words with synonyms rather than unrelated words, a finding suggesting that mechanisms responsible for maintaining semantic information may also play an important role in performance of sentence recall tasks.
Why Doesn't This Feel Empowering? Working Through the Repressive Myths of Critical Pedagogy

Elizabeth Ellsworth finds that critical pedagogy, as represented in her review of the literature, has developed along a highly abstract and Utopian line which does not necessarily sustain the daily workings of the education its supporters advocate. The author maintains that the discourse of critical pedagogy is based on rationalist assumptions that give rise to repressive myths. Ellsworth argues that if these assumptions, goals, implicit power dynamics, and issues of who produces valid knowledge remain untheorized and untouched, critical pedagogues will continue to perpetuate relations of domination in their classrooms.The author paints a complex portrait of the practice of teaching for liberation. She reflects on her own role as a White middle-class woman and professor engaged with a diverse group of students developing an antiracist course. Grounded in a clearly articulated political agenda and her experience as a feminist teacher, Ellsworth provides a critique of "empowerment," "student voice," "dialog.
Competitive facilitation of drug-resistant Plasmodium falciparum malaria parasites in pregnant women who receive preventive treatment

Intermittent preventive treatment in pregnancy (IPTp) is used to prevent Plasmodium falciparum malaria. However, parasites resistant to the IPTp drug sulfadoxine-pyrimethamine (SP) have emerged worldwide, and infections with mixed resistant and susceptible parasites are exacerbated by pyrimethamine in mice. In a prospective delivery cohort in Muheza, Tanzania, we examined the effects of SP IPTp on parasite resistance alleles, parasite diversity, level of parasitemia, and inflammation in the placenta. IPTp use was associated with an increased fraction of parasites carrying the resistance allele at DHPS codon 581, an increase in the level of parasitemia, and more intense placental inflammation. The lowest mean level of parasite diversity and highest mean level of parasitemia occurred in women after recent IPTp use. These findings support a model of parasite release and facilitation, whereby the most highly resistant parasites out-compete less fit parasite populations and overgrow under drug pressure. Use of partially effective anti-malarial agents for IPTp may exacerbate malaria infections in the setting of widespread drug resistance.
The Continual Significance of Skin Color: An Exploratory Study of Latinos in the Northeast

Previous studies have shown that skin color matters for Latinos’ life chances. Most of these studies have focused on Latinos in the Southwest, specifically Mexican and Chicano males. Using the 1994 Boston Social Survey Data, this study examines the effects of skin color for Latinos in the Northeast, specifically Puerto Rican and Dominican men and women. This exploratory study suggests that having dark skin negatively affects wages for men; however, this was not the case for females in the sample.
GeoLANMAR: geo assisted landmark routing for scalable, group motion wireless ad hoc networks

Network scalability becomes a critical issue when it is associated to the routing protocols for ad hoc networks. It is important to design protocols able to manage the state information stored in the mobile nodes and the control protocol overhead so that they scale to the increasing number of nodes in the network. Our proposed approach is to use a hybrid routing protocol, with local scope table-driven routing and long distance geo-forwarding. This approach permits to overcome possible location inaccuracies that affect flat geo-routing (e.g. inaccurate GPS) and most important to reduce the routing update overhead of flat link-state protocol. In this framework, the integration between geo-coordinate and table-driven IP addressing is introduced. The proposed protocol, called geo assisted landmark routing (GeoLANMAR), integrates group management with geo-forwarding and IP group management performance evaluation shows the scalability improvement of the GeoLANMAR protocol in terms of control overhead as compared with the standard landmark routing protocol
Analysis of the peripheral T‐cell repertoire in kidney transplant patients

The long‐term stability of renal grafts depends on the absence of chronic rejection. As T cells play a key role in rejection processes, analyzing the T‐cell repertoire may be useful for understanding graft function outcomes. We have therefore investigated the power of a new statistical tool, used to analyze the peripheral blood TCR repertoire, for determining immunological differences in a group of 229 stable renal transplant patients undergoing immunosuppression. Despite selecting the patients according to stringent criteria, the patients displayed heterogeneous T‐cell repertoire usage, ranging from unbiased to highly selected TCR repertoires; a skewed TCR repertoire correlating with an increase in the CD8+/CD4+ T‐cell ratio. T‐cell repertoire patterns were compared in patients with clinically opposing outcomes i.e. stable drug‐free operationally tolerant recipients and patients with the “suspicious” form of humoral chronic rejection and were found significantly different, from polyclonal to highly selected TCR repertoires, respectively. Moreover, a selected TCR repertoire was found to positively correlate with the Banff score grade. Collectively, these data suggest that TCR repertoire categorization might be included in the calculation of a composite score for the follow‐up of patients after kidney transplantation.
MHC variation reflects the bottleneck histories of New Zealand passerines

Most empirical evidence suggests that balancing selection does not counter the effects of genetic drift in shaping postbottleneck major histocompatibility complex (MHC) genetic diversity when population declines are severe or prolonged. However, few studies have been able to include data from historical specimens, or to compare populations/species with different bottleneck histories. In this study, we examined MHC class II B and microsatellite diversity in four New Zealand passerine (songbird) species that experienced moderate to very severe declines. We compared diversity from historical samples (collected c. 1884–1938) to present‐day populations. Using a Bayesian framework, we found that the change in genetic diversity from historical to contemporary samples was affected by three main factors: (i) whether the data were based on MHC or microsatellite markers, (ii) species (as a surrogate for bottleneck severity) and (iii) whether the comparison between historical and contemporary samples was made using historical samples originating from the mainland, or using historical samples originating from islands. The greatest losses in genetic diversity occurred for the most severely bottlenecked species, particularly between historical mainland and contemporary samples. Additionally, where loss of diversity occurred, the change was greater for MHC genes compared to microsatellite loci.
An Examination of the Correlates of Job Involvement

Rabinowitz and Hall (1977) suggested that the relationships between job involvement and personal situational characteristics and work outcomes are approximately equal in size. This study explored the portions of common variance shared with job involvement by combinations of personal and situational characteristics and outcome variables. Correlation and regression generally supported Rabinowitz and Hall's profile of the job-involved employee. Situational characteristics and outcome variables are each found to display comparable amounts of common variance with job involvement and considerably more than do personal characteristics.
Sky Service: The Demands of Emotional Labour in the Airline Industry

Following Hochschild's The Managed Heart, which emphasized the problematic features that emotional labour had for women flight attendants, a critical literature emerged which focused on the more enjoyable aspects of emotional labour in service employee experience. This article draws on this literature and analyses emotional labour as a gendered cultural performance but takes issue with the individualizing and pluralistic tenor in the post-Hochschild discussions. Using a qualitative and quantitative study of nearly 3000 Australian flight attendants, it focuses on organizational and occupational health and safety variables, as well as sexual harass-ment and passenger abuse — factors barely discussed by Hochschild's critics. The qualitative data indicate that emotional labour is both pleasurable and difficult at different times for the same individual. Gender is still pivotal, as Hochschild suggested, linking emotional labour with sexual harassment. At the same time, the most significant predictors from the quantitative study of whether emotional labour would be costly were organizational. Variables such as whether flight attendants felt valued by the company show that the airline management context is highly influential in the way in which emotional labour is experienced. As a means of understanding the complex relations in this important and eroticized area of service work where flight attendants, airline crews, airline management and passengers have convergent and conflicting interests, the article also deploys a new concept: ‘demanding publics’, to refer to trangressions of the legitimate boundaries of the service worker.
Variability impact on on-chip memory data paths

Process variations have a large impact on device and circuit reliability and performance. Few studies are focused on their impact on more complex systems, as for example their influence in a data path. In our study, the impact of variations in the memory cell block is the largest measured, as it is usually designed with the minimum device dimensions. Moreover, we observe a significant influence of the device type (p/nMOS) used to implement the memory cell in terms of delay and variability robustness.
Cloning, expression and characterization of a thermostable pullulanase from newly isolated thermophilic Geobacillus sp. LM14–3

A novel strain LM14–3 producing thermostable pullulanase was separated from Lunma hot spring of Yunnan Province of China. According to colony morphology and 16S rRNA sequence, this strain was named as Geobacillus sp. LM14–3. The thermostable pullulanase with optimal pH 6.0 and optimal temperature 60°C was accumulated in the fermentation broth of Geobacillus sp. LM14–3. The corresponding pullulanase gene, designated as pul-3, was obtained through PCR. The domain structure of the pullulanase was consistent with that of pullulanase I according to sequence similarity. Pul-3 was expressed in E. coli. Maltotriose is the unique hydrolysis product of pullulan determined by HPLC, which confirmed its high specificity for alpha-1,6-glycosidic bond. The pullulanase reported previously usually lost their activity under high temperature, which was difficult to satisfy the demand of biotechnological applications, such as sugar making, detergent, etc. The thermostable pullulanase found in this study owned excellent thermal stability over a wide temperature span, and a half-life as long as 56 h at 60°C, which favors the potential industrial application.
Interpersonal characteristics associated with different team roles in work groups

Purpose – The purpose of this study is to investigate interpersonal characteristics associated with Belbin's team roles in work groups.Design/methodology/approach – The SYMLOG Interpersonal Effectiveness Profile (an interpersonal measure of personality), the EPQ (an intrapsychic measure of personality) and a revised version of Belbin's behavioural checklist measure of team roles were administered to 145 UK managers.Findings – Canonical correlation analysis showed that SYMLOG personality dimensions were much more clearly and strongly related to team roles than were EPQ personality dimensions. The dominance (upward) SYMLOG dimension was positively associated with the roles of implementer, coordinator and resource investigator, and this was the most important canonical variate. The accepting authority (forward) SYMLOG dimension was positively associated with the roles of completer finisher, monitor evaluator and negatively associated with plant and shaper, and this was the next most important canonical varia.
Reliabilität von Kurzformen gängiger psychometrischer Instrumente zur Evaluation des therapeutischen Fortschritts in Psychotherapie und Psychiatrie

Zusammenfassung. Im Rahmen der sich in den letzten Jahren immer starker etablierenden Wissenschaftler-Praktiker-Netzwerke und Qualitatssicherungsstudien in der Psychotherapie und Psychiatrie wird der Einsatz von okonomischen, aber multidimensionalen und veranderungssensitiven klinischen Messinstrumenten zur Verlaufs- und Ergebnismessung therapeutischer Behandlungen immer wichtiger. In der vorliegenden Arbeit wird die Entwicklung von Kurzfragebogen vier gangiger Messinstrumente (der Symptom-Checkliste, SCL-90-R; dem Emotionalitatsinventar, EMI; dem Inventar Interpersonaler Probleme, IIP und dem Inkongruenzfragebogen, INK) sowie die Validitat, Reliabilitat und Veranderungssensitivitat dieser Kurzfragebogen anhand einer Stichprobe der Allgemeinbevolkerung (N = 436), einer Stichprobe ambulanter Psychotherapiepatienten (N = 169) sowie einer Stichprobe von Patienten in stationarer Psychotherapie (N = 134) dargestellt. Die psychometrischen Eigenschaften dieser Kurzformen sowie ein daraus generierter auf 43 Items.
Economics and Politics The calculus of support

L'ensemble des études contenues dans ce volume pose au politologue et à l'économiste toute une série de questions extrêmement stimulantes. On sait qu'un des fondements les plus fermes de l'école du Public Choice est l'hypothèse d'un comportement économique, donc "rationnel", des intervenants de la vie politique. C'est ici l'électeur et généralement le citoyen, plutôt que le politicien professionnel, qui fait l'objet d'un examen détaillé ; mais l'électeur "rationnel" est déjà, par définition, un être b e a u c o u p moins facile à appréhender que le politicien rationnel : on connaît, on devine, les bénéfices que ce dernier peut tirer de son action, alors que l'on ne voit pas clairement comment l'électeur apprécie les bénéfices possibles de son vote, puisqu'il sait que ce vote n'influencera sans doute pas le résultat final d 'une consultation : c'est le "paradoxe du vote", thème classique qui n'apparaît dans ce livre qu'en filigrane. Un des mérites les plus évidents de l'ouvrage édité par Helmut Norpoth, Michael S. Lewis-Beck, et Jean-Dominique Lafay est d'avoir réuni des contributions émanant de quelques-uns des meilleurs spécialistes de l'analyse économique du vote. Les chapitres qui le constituent ne se limitent pas (sauf dans un cas) à une modélisation théorique, mais proposent une analyse empirique des interactions entre performances économiques et support apporté à l'équipe dirigeante. Ce support , ou son absence , peut apparaîtrè soit périodiquement à l 'occasion d'élections, soit de façon continue à l'occasion de sondages : d'où deux problèmes,
Life Course Trajectories of Perceived Control and Their Relationship to Education1

This study looks for evidence of an adulthood trajectory of perceived control over one’s own life, and education’s role in shaping it. Vectors from a 1995–2001 U.S. survey of adults imply a much steeper trajectory than did previous cross‐sectional studies, peaking in late middle age rather than early adulthood. They also show a trend toward larger increases in younger cohorts. Education influences the trajectory, particularly the level at which it begins. Estimates show an increase of . 60 standard deviations with a four‐year increase in education. The sense of control also increases more outside of school the higher the level of education.
A Remez‐Type Theorem for Homogeneous Polynomials

Remez‐type inequalities provide upper bounds for the uniform norms of polynomials p on given compact sets K, provided that |p(x)| ⩽ 1 for every x ∈ K\E, where E is a subset of K of small measure. In this paper we prove sharp Remez‐type inequalities for homogeneous polynomials on star‐like surfaces in Rd. In particular, this covers the case of spherical polynomials (when d = 2 we deduce a result of Erdélyi for univariate trigonometric polynomials).
Driving While Impaired (DWI) by Alcohol Convictions Among Alcohol, Cocaine, and Cannabis Clients in Treatment

Objective. Although studies have demonstrated that clients in treatment for alcohol abuse are more at risk of driving while impaired (DWI) by alcohol than normal licensed drivers from the general population, no research was found on DWI convictions among those in treatment for abusing cannabis or cocaine. The purpose of this article is to compare DWI convictions among clients in treatment for alcohol, cannabis, cocaine, or various combinations of these substances, compared to a matched population control group. Method. A stratified random sample of driver records was drawn from seven client groups who sought treatment in 1994 for alcohol, cannabis, cocaine, or any combination of these substances (n = 445). A random sample of drivers, frequency matched by age and sex (n = 566), served as control subjects. Results. Logistic regression analysis, controlling for sex and age, was conducted to assess whether DWI convictions were elevated for each of the client groups, compared to controls. Two sets of analyses were conducted, before treatment (from 1985 to 1993) and after treatment (from 1995 to 2000). In the time period before treatment, every drug group except the “cannabis only” group had significantly more DWI convictions than controls (p < .05). In the period after treatment, the “alcohol only,” “cocaine only,” “alcohol and cocaine,” and the “cocaine and cannabis” groups still had significantly more DWI convictions than controls (p < .05). Conclusion. The results show that DWI convictions are elevated among those who abused cocaine but not among those who abused cannabis. The results suggest that cross-addiction of alcohol and cocaine is common, and problematic drinking among cocaine clients can go undetected when clients are being diagnosed for treatment.
Use of Wolbachia to drive nuclear transgenes through insect populations

Wolbachia is an inherited intracellular bacterium found in many insects of medical and economic importance. The ability of many strains to spread through populations using cytoplasmic incompatibility, involving sperm modification and rescue, provides a powerful mechanism for driving beneficial transgenes through insect populations, if such transgenes could be inserted into and expressed by Wolbachia. However, manipulating Wolbachia in this way has not yet been achieved. Here, we demonstrate theoretically an alternative mechanism whereby nuclear rather than cytoplasmic transgenes could be driven through populations, by linkage to a nuclear gene able to rescue modified sperm. The spread of a‘nuclear rescue construc’ occurs as long as the Wolbachia show imperfect maternal transmission under natural conditions and/or imperfect rescue of modified sperm. The mechanism is most efficient when the target population is already infected with Wolbachia at high frequency, whether naturally or by the sequential release of Wolbachia–infected individuals and subsequently the nuclear rescue construct. The results provide a potentially powerful addition to the few insect transgene drive mechanisms that are available.
Filtering approximation using systematic perturbations of a discrete-time stochastic dynamical system [groundwater pollutant remediation]

The standard problem of groundwater pollutant remediation by well pumping is modeled as a discrete-time LQG stochastic optimal control problem. The control is approximated by using a variation of differential dynamic programming (DDP) that includes systematic perturbations. Kalman filtering is used to estimate the partially observed state variables in a tractable format. This is a filtering application of the DDP method used by the authors in an earlier perturbation paper.
Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44

Submicroscopic deletions of 1q44–qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.