Miracle-dz/UniFAR-FTUs huggingface dataset:
BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

CONTEXT A mutation in the BRCA1 gene may confer substantial risk for breast and/or ovarian cancer. However, knowledge regarding all possible mutations and the relationship between risk factors and mutations is incomplete. OBJECTIVES To identify BRCA1 mutations and to determine factors that best predict presence of a deleterious BRCA1 mutation in patients with breast and/or ovarian cancer. DESIGN A complete sequence analysis of the BRCA1 coding sequence and flanking intronic regions was performed in 798 women in a collaborative effort involving institutions from the United States, Italy, Germany, Finland, and Switzerland. PARTICIPANTS Institutions selected 798 persons representing families (1 person for each family) thought to be at elevated a priori risk of BRCA1 mutation due to potential risk factors, such as multiple cases of breast cancer, early age of breast cancer diagnosis, and cases of ovarian cancer. No participant was from a family in which genetic markers showed linkage to the BRCA1 locus. MAJOR OUTCOME MEASURES Sequence variants detected in this sample are presented along with analyses designed to determine predictive characteristics of those testing positive for BRCA1 mutations. RESULTS In 102 women (12.8%), clearly deleterious mutations were detected. Fifty new genetic alterations were found including 24 deleterious mutations, 24 variants of unknown significance, and 2 rare polymorphisms. In a subset of 71 Ashkenazi Jewish women, only 2 distinct deleterious mutations were found: 185delAG in 17 cases and 5382insC in 7 cases. A bias in prior reports for mutations in exon 11 was revealed. Characteristics of a patient's specific diagnosis (unilateral or bilateral breast cancer, with or without ovarian cancer), early age at diagnosis, Ashkenazi Jewish ethnicity, and family history of cancer were positively associated with the probability of her carrying a deleterious BRCA1 mutation. CONCLUSIONS Using logistic regression analysis, we provide a method for evaluating the probability of a woman's carrying a deleterious BRCA1 mutation for a wide range of cases, which can be an important tool for clinicians as they incorporate genetic susceptibility testing into their medical practice.
Differentiation of leucine and isoleucine residues in peptides by consecutive reaction mass spectrometry.

In this paper, we present a new strategy that is widely applicable for the assignment of leucine and isoleucine in peptide moledules. First, the peptides (or proteins) are digested with an endopeptidase, thermolysin. Second, the proteolytic digest is analyzed by FAB MS and MS/MS, and the peptides having leucine or isoleucine as the N-terminal residues are assigned from the peptides in the digest. Finally, leucine and isoleucine residues in each fragment peptide are identified on the basis of the MS 3 (MS/MS/MS) spectra of each MH + of the leucine/isoleucine terminal peptides
A TRANSIÇÃO DE ESTUDANTE A PROFESSOR UNIVERSITÁRIO

No momento em que se tornam docentes universitários muitos doutores, pela primeira vez, enxergam-se como professores, iniciando, nesse mesmo momento, seus processos de construção da identidade docente. Este trabalho buscou investigar o processo de transição de estudante a professor universitário, dentro da perspectiva da iniciação à docência. Ainda, analisamos a sequência formativa desses docentes, as sensações do trânsito entre a condição de estudante e a de professor e alguns desafios da iniciação à docência. A pesquisa, de abordagem qualitativa, teve como contexto a Universidade Federal de Pelotas. A coleta de dados foi feita através de observações de aulas e de entrevistas com seis professores. Eles tinham até 32 anos, possuíam até 2 anos e 7 meses de experiência docente, não possuíam formação pedagógica e eram recém-doutores que, após cursar, sequencialmente seus estudos de graduação e pós-graduação, ingressaram na docência superior. Os dados, trabalhados através da análise de conteúdo, foram interpretados e discutidos a partir de teorias sobre docência universitária, identidade docente e iniciação à docência. Observamos que a transição identitária de sses sujeitos exige aprendizagens, superação de tensões, enfrentamento das inseguranças e equilíbrio pessoal e profissional. Identificamos que eles resgatam suas experiências estudantis para fazerem-se professores. A construção de suas identidades docentes se constitui também pelo trânsito de ida e volta entre suas condições de professor e de aluno. Por ainda estarem nesse processo transitório, mesclam suas identidades de estudante e de professor. Eles estão no início de carreira e é nela que vão construindo suas novas identidades, suas identidades docentes.
Alcohol Abuse Prevention Among High-Risk Youth

Abstract This study examined the feasibility of a CD-ROM intervention to prevent alcohol abuse among high-risk youths. Youths from 41 community-based agencies in greater New York City participated in a randomized trial of a skills-based interactive CD-ROM. Outcome data were collected on 489 early adolescents in these agencies before and after a randomized subset of youths interacted with a 10-session alcohol abuse prevention program on CD-ROM. Compared to control participants, youths in the intervention arm had a positive increase in perceived harm of alcohol use and increased assertiveness skills. At posttest, drinking rates for control and intervention participants were equal and unchanged from pretest. These findings suggest that CD-ROM technology offers a new and promising medium for engaging high-risk youth in an alcohol abuse prevention program. Study implications and future applications of the present approach are discussed.
Characterization of transmission lines based on frequency-domain and time-domain measurement techniques

A importância de cabos eletricos em sistemas modernos de comunicacao de dados e transmissao de energia nao pode ser subestimada. A transmissao segura e eficiente de dados ou energia depende da integridade dos cabos eletricos e redes de cabos. Em muitas aplicacoes o monitoramento continuo das caracteristicas do cabo e necessario para garantir o desempenho do sistema. Neste trabalho, diferentes tecnicas no dominio do tempo e no dominio da frequencia sao aplicadas a um conjunto de experimentos para explorar diferentes meios para caracterizar linhas de transmissao de forma comparativa. Primeiro, dois cabos exemplares sao analisados por tecnicas no dominio da frequencia para obter suas capacidades em funcao de diferentes comprimentos de cabo. Os resultados mostram a influencia do comprimento sobre a capacidade do canal para ambos os cabos, os quais foram comparados a sistemas comerciais de transmissao de dados. Como segunda parte dos experimentos, um conjunto de linhas de transmissao em cascata escolhido e caracterizado no dominio do tempo e da frequencia. A analise do dominio do tempo baseada em metodos de reflectometria e transmissometria revela descasamentos de impedância ao longo da linha e resposta ao impulso, respectivamente. A analise no dominio da frequencia e baseada nos parâmetros de espalhamento e permite a extracao dos parâmetros eletricos do canal. Alem disso, a analise no dominio do tempo dos parâmetros de espalhamento pode ser realizada pela transformada inversa chirp Z, uma abordagem fraca geralmente baseada em uma solucao de norma minima. Uma vez que a natureza dos descasamentos de impedância ao longo da linha e esparsa, propoe-se uma transformada inversa chirp Z esparsa, especialmente projetada para este tipo de aplicacao. O metodo e verificado comparando-se os resultados fornecidos pela abordagem geral, mostrando desempenho promissor atraves dos perfis de reflexao e transmissao obtidos.
Fast and sparse inversion of magnetic data with truncated generalized cross validation

In this paper a fast method for sparse inversion of magnetic data is considered. The L1-norm stabilizer is used to generate models with sharp and distinct interfaces. To deal with the non-linearity introduced by the L1-norm, a model-space iteratively reweighted least squares algorithm is used. The original model matrix is factorized using the Golub-Kahan bidiagonalization and provides the projection of the problem onto a Krylov subspace of significantly reduced dimension. The model matrix of the projected system inherits the ill-conditioning of the original matrix but the spectrum of the projected system accurately captures only a portion of the full spectrum. Equipped with the singular value decomposition of the projected system matrix, the solution of the projected problem is expressed using a filtered singular value expansion. This expansion depends on a regularization parameter which is determined using the method of generalized cross validation for the truncated ∗Corresponding author Email addresses: afanaee@birjandut.ac. ir ( Gholam Abbas Fanaee Kheirabad ), svatan@ut.ac. ir (Saeed Vatankhah), renaut@asu.edu ( Rosemary A. Renaut) Preprint submitted to Elsevier July 22, 2016 spectrum. This new technique based on truncation is effective especially for high noise levels as compared with the standard method of generalized cross validation and a weighted version that has been previously suggested for solution of regularized problems at the subspace level. Numerical results for synthetic examples and real field data demonstrate the efficiency of the presented algorithm.
Power Reduction of Asynchronous Logic Circuits Using Activity Detection

Asynchronous circuits are well known for their benefits in terms of dynamic power savings because asynchronous logic does not switch when inactive. Nevertheless, in deep-submicron technologies, leakage currents have become an increasing issue, and thus, asynchronous circuits need to focus on static-power-consumption reduction. In this paper, we propose an innovative way to detect incoming asynchronous activity. Associated to an automatic power regulation, it efficiently reduces the supply voltage and, thus, both energy per operation and leakage currents. The proposed technique has been applied to an asynchronous network-on-chip node and successfully implemented in an ST Microelectronics CMOS 65-nm technology.
Detection of kidney disease using various intelligent classifiers

Scientists are interesting to develop and improve analytical tools for medical diagnosis. Machine learning technique is one of the tools that is used in medical analysis and diagnosis. This research considers the implementation of data mining classification tools on the kidney patient data sets. The aim of this paper is to predict kidney function failure through the implementation of data mining classifiers tools. The experiment is performed on different algorithms like Back Propagation Neural Network, Naïve Bayes, Decision Table, Decision trees, K nearest neighbor and One Rule classifier. The experimental results show that the Naïve Bayes algorithm provides better result than the other classification algorithms and produces 99.36 % accuracy and 0.977 sensitivity.
About face: signals and genes controlling jaw patterning and identity in vertebrates.

The embryonic vertebrate face is composed of similarly sized buds of neural crest-derived mesenchyme encased in epithelium. These buds or facial prominences grow and fuse together to give the postnatal morphology characteristic of each species. Here we review the role of neural crest cells and foregut endoderm in differentiating facial features. We relate the developing facial prominences to the skeletal structure of the face and review the signals and genes that have been shown to play an important role in facial morphogenesis. We also examine two experiments one at the genetic level and one at the signal level in which transformation of facial prominences and subsequent change of jaw identity was induced. We propose that signals such as retinoids and BMPs and downstream transcription factors such as Distal-less related genes specify jaw identity.
Impulsions électromagnétiques dans des milieux ultra-dispersifs nanostructurés : une approche théorique et numérique

L’etude de l’interaction entre une impulsion electromagnetique et un materiau dispersif est un vieux sujet qui remonte au moins au tournant du vingtieme siecle avec Sommerfeld et Brillouin. Depuis lors, de nombreux scientifiques ont apporte leur contribution mais il reste un certain nombre de questions, y compris dans des domaines supposes completement defriches. Le but de cette these est d’aborder, de la maniere la plus systematique qui soit, les problemes les plus emblematiques du domaine de ce qu’il est convenu d’appeler “l’electrodynamique classique dans la matiere”. Dans un premier temps, nous avons cherche a repondre a la question simple et fondamentale suivante: un certain nombre de points experimentaux etant donnes trouver une procedure qui permette d'obtenir un modele analytique pour la permittivite. Maintenant equipe d’un modele phenomenologique pour la permittivite, on s’attache a determiner les caracteristiques essentielles liees a la propagation d’une impulsion electromagnetique dans un milieu arbitrairement dispersif. Apres quoi, nous changeons de dimension en nous attaquant aux problemes tridimensionnels. Nous commencons par l’etude du champ electromagnetique diffuse par une particle chargee ponctuelle oscillant a une frequence fixe donnee, et placee a cote d’un objet. La derniere partie est une partie plus pratique ou l'on aborde des problemes qui touchent a la technologie. Chercher les resonances de structures ouvertes n’est pas une mince affaire et met en scene des resonances dans le plan complexe. Ici on determine a la main les QNM (Quasi-Normal Modes) d’une cavite Fabry-Perot.
Using Unstructured Data to Identify Readmitted Patients

Readmission rate is a quality metric for hospitals. The electronic medical record is the main source to identify readmitted patients and calculating readmission rates. Difficulties remain in identifying patients readmitted to a facility different than the one performing the procedure. In this study, we assessed the impact of using unstructured data in detecting readmission within 30 days of surgery. We implemented two rule-based systems to recognize any mention of readmission in follow-up phone call conversions. We evaluated our systems on datasets from two hospitals. Our evaluation showed using unstructured data, in addition to structured data, increased sensitivity in the both dataset, from 53 to 81 and 66 to 87 percent.
Intraspecific interference influences the use of prey hotspots

This research was funded by the projects CGL2004-00346/BOS (Spanish Ministry of Education and Science) and 17/2005 (Spanish Ministry of the Environment; National Parks Research Programme), and BP-Oil Spain. Regional Government of Andalusia partly funded the supplementary feeding programme (LIFE-02NAT/8609). Land-Rover Espana S.A. kindly lended two vehicles for this work. JVLB was supported by a FPU fellow (Ministry of Education).
A Compact Four-way Dual-band Power Divider Using Lumped Elements

A compact four-way dual-band microstrip power divider is investigated and demonstrated in this letter. The proposed divider reduces the number of transmission line sections by decomposing a single dual-band transformer into a four-way power divider. The theoretical equations for isolation structures and the design procedures of the power divider are presented. For demonstration, a prototype operating at 1 and 2 GHz is fabricated and measured. Good agreements can be observed between the simulated and measured results.
[Efficacy and safety of gene therapy for Wiskott-Aldrich syndrome].

m/s n° 12, vol. 31, decembre 2015 DOI : 10.1051/medsci/20153112006 7. Bansil R and Turner BS. Mucin structure, aggregation, physiological functions and biomedical applications. Curr Opin Colloid Interface 2006 ; 11 : 164-70. 8. Gouyer V, Dubuquoy L, Robbe-Masselot C, et al. Delivery of a mucin domain enriched in cysteine residues strengthens the intestinal mucous barrier. Sci Rep 2015 ; 5 : 9577. 9. Desseyn JL. Mucin CYS domains are ancient and highly conserved modules that evolved in concert. Mol Phylogenet Evol 2009 ; 52 : 284-92. 10. Borges S, Silva J, Teixeira P. The role of lactobacilli and probiotics in maintaining vaginal health. Arch Gynecol Obstet 2014 ; 289 : 479-89. 11. Brunelli R, Papi M, Arcovito G, et al. Globular structure of human ovulatory cervical mucus. FASEB J 2007 ; 21 : 3872-6. 12. Perez-Vilar J and Boucher RC. Reevaluating gelforming mucins’ roles in cystic fibrosis lung disease. Free Radic Biol Med 2004 ; 37 : 1564-77. 13. Backstrom M, Ambort D, Thomsson E, et al. Increased understanding of the biochemistry and biosynthesis of MUC2 and other gel-forming mucins through the recombinant expression of their protein domains. Mol Biotechnol 2013 ; 54 : 250-6. LIENS D’INTERET Les auteurs declarent n’avoir aucun lien d’interet concernant les donnees publiees dans cet article.
Stretchable Microfluidic Radiofrequency Antennas

www.MaterialsViews. com C O M Stretchable Microfl uidic Radiofrequency Antennas M U N I By Masahiro Kubo , Xiaofeng Li , Choongik Kim , Michinao Hashimoto , Benjamin J. Wiley , Donhee Ham , and George M. Whitesides * C A IO N This paper describes a new method for fabricating stretchable radiofrequency antennas. The antennas consist of liquid metal (eutectic gallium indium alloy, EGaIn [ 1 , 2 ] ) enclosed in elastomeric microfl uidic channels. In particular, a microfl uidic structure made of two types of elastomers (polydimethylsiloxane (PDMS) and Ecofl ex (type 0030, Reynolds Advanced Materials)) with different stiffness has been developed to improve the stretchability and mechanical stability of the antennas. These antennas can be stretched up to a strain [defi ned as the percentage change in length or ( l – l 0 )/ l 0 ] of 120 %. This high stretchability allows the resonance frequencies of the antennas to be mechanically tuned over a wide range of frequencies. The antennas can also be repeatedly stretched, while retaining a high effi ciency (> 95 %) in radiation. “Stretchability” in electronics has the potential to open new opportunities, particularly for large-area devices and systems, and in systems that require the device to conform to a nonplanar surface, or to bend and stretch while in use. [ 3–5 ] Compared to “fl exible” electronics built on nonstretchable polymer or paper substrates, [ 6 , 7 ] stretchable electronics can cover almost arbitrarily curved surfaces and movable parts. Mechanical compliance may increase the comfort of the user for wearable electronics or implantable medical devices, and simplify the integration for a range of applications. [ 3–5 , 8 ] New approaches to stretchable electronics are now being developed. In a recent advance, Rogers et al. [ 4 , 5 ] described stretchable integrated circuits with elongation of up to 100 % using wavy, thin silicon ribbons on pre-stretched elastic substrates. Antennas offer new, attractive applications for stretchable electronics; these applications might include reconfi gurable antennas, [ 9 ] antennas for limited and nonplanar spaces, [ 10 ] and wearable sensors. Two methods are commonly used to build antennas for commercial applications. The most common method uses sheet-metal processing; in this method, a metal sheet is punched, bent, and welded into the desired structure. A second method uses chemical etching and plating to make small patterns of metal. This method can make fl exible antennas by patterning metal on a fl exible substrate. Neither
Long-Term Follow-Up of Autonomic and Enteric Measures in Patients Undergoing Vertical Banded Gastroplasty for Morbid Obesity

Background A multi-component model of autonomic and enteric factors may correlate with ultimate weight loss or gain after restrictive obesity surgery. This study aimed to determine relevant parameters to predict successful long-term weight loss. Methods Thirty-nine patients (four males and 35 females) with a mean age of 37.2 years were followed for over 15 years after vertical banded gastroplasty. Baseline adrenergic: postural adjustment ratio (PAR) and vasoconstriction (VC); cholinergic: electrocardiogram R-to-R interval (RRI) and enteric measure: electrogastrogram (EGG) were utilized by a discriminant function analysis to classify patients as a long-term loser or gainer. Using latest weight compared to baseline, patients were divided as 10 gainers and 29 losers. Results A discriminate model successfully predicted ultimate weight gain in 8/10 (80%) of patients who subsequently gained weight and weight loss in 24/29 (83%) of patients who lost weight for a total correct classification of 32/39 (82%). The same model with data at 3 months postoperatively predicted weight gain in 9/10 (90%) of patients and weight loss in 24/29 (83%) of patients, for a total correct classification of 34/39 (87%). Conclusions A multi-component model at baseline and 3 months postoperative can predict long-term weight outcome from restrictive obesity surgery.
Análisis contextual - relacional del sujeto: Herramienta para la entrevista psiquiátrica

La entrevista medica es el momento en que se produce y reproduce en acto la Medicina. La evidencia muestra que existen limitaciones del modelo medico dominante. Es necesaria una reconfiguracion de la practica y de las herramientas que ayuden a un abordaje eficaz y accesible. Se presenta una herramienta practica para la historia clinica que permita recolectar informacion mostrando la interaccion con el sujeto, con las dimensiones contextuales y que acompanan al sintoma que presenta. Se desarrollo un instrumento a manera de esquema que permite incluir informacion relacionada tanto con cuestiones estaticas como dinamicas de las personas. Resulta una sintesis entre el genograma, el ecomapa y la Matriz de Procesos Criticos (Breilh, 2003). El esquema plantea una nueva herramienta que debe resultar en utilidad, practicidad y posibilidad de explorar nuevas dimensiones y debe convertirse en indispensable para el abordaje integral de la persona que consulta y su familia.
Desarrollo del conocimiento profesional docente sobre espectroscopía durante un proceso de investigación-acción

En este trabajo se plantea un estudio cualitativo que documenta el conocimiento profesional de un docente que se inicia en la investigacion en educacion cientifica. Para ello, se partio de una experiencia disenada para la ensenanza de la espectroscopia en una clase de Fisica de nivel medio, se planteo una investigacion-accion que permitiera la reflexion sobre su propia practica, llevando la experiencia personal a un objeto a analizar. Se presentan los procesos involucrados en la seleccion del tema, la base para el diseno e implementacion de la actividad practica y las observaciones del docente.