Miracle-dz/UniFAR-FTUs huggingface dataset:
Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot‐Marie‐Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN‐related disorders but it is estimated that in approximately 50% of affected individuals a molecular diagnosis is not achieved. In this study, we examine the diagnostic utility of whole‐exome sequencing (WES) in a cohort of 50 families with 1 or more affected individuals with a molecularly undiagnosed IPN with or without additional features. Pathogenic or likely pathogenic variants in genes known to cause IPN were identified in 24% (12/50) of the families. A further 22% (11/50) of families carried sequence variants in IPN genes in which the significance remains unclear. An additional 12% (6/50) of families had variants in novel IPN candidate genes, 3 of which have been published thus far as novel discoveries (KIF1A, TBCK, and MCM3AP). This study highlights the use of WES in the molecular diagnostic approach of highly heterogeneous disorders, such as IPNs, places it in context of other published neuropathy cohorts, while further highlighting associated benefits for discovery.
A Hybrid-Excited Vernier Permanent Magnet Machine Using Homopolar Topology

In this paper, a hybrid-excited vernier permanent magnet (PM) machine is proposed. Two excitation sources, namely, the PM excitation and the electrical excitation are artfully combined together based on the homopolar topology, resulting in a parallel hybrid excitation. The flux regulation capability of the proposed machine is discussed and analyzed. Unlike other hybrid-excited machines, the flux regulation is realized based on the variation of the armature flux linkage rather than directly adjusting the air-gap flux. Performances of the bi-directional flux regulation are evaluated by the 3-D finite-element method. In order to verify the analytical results, the proposed machine is prototyped and tested as a generator. Both no-load and on-load performances are assessed. The experimental results agree well with the analytical ones.
Analyse d’opinion : annotation sémantique de textes chinois

Notre travail concerne l’analyse automatique des énoncés d’opinion en chinois. En nous inspirant de la théorie linguistique de l’Appraisal, nous proposons une méthode fondée sur l’usage de lexiques et de règles locales pour déterminer les caractéristiques telles que la Force (intensité), le Focus (prototypicalité) et la polarité de tels énoncés. Nous présentons le modèle et sa mise en oeuvre sur un corpus journalistique. Si pour la détection d’énoncés d’opinion, la précision est bonne (94 %), le taux de rappel (67 %) pose cependant des questions sur l’enrichissement des ressources actuelles.
From creativity to success: the evolutionary mechanism of innovation case study of Siemens

Innovation is a social process. The interaction between multiple social domains determines fierce competitive environment of innovation. This article presents a theory of evolutional mechanism of innovation, defines the specific concepts of the four social domains and analyses three selection and evolutionary stages of the process of innovation evolution. And one time, a case study of the selection process within Siemens depicts the practical application. Elaborated research on evolutional mechanism assists organizations exploit their approaches to improve their capabilities of innovation-focus on using managerial practices to improve innovative capabilities, but not simply improve individual innovative capabilities
Implicações da aprendizagem experiencial e da reflexão pública para o ensino de pesquisa qualitativa e a formação de mestres em administração

Stricto sensu postgraduate management education prepares researchers and teachers. We hope that Master's Degree students develop their learning capacity in order to conduct research. Academic procrastination and learning shock on the part of the Master's Degree students hinder this process. The purpose of this exploratory study is to examine the teaching-learning practice during and after the learning-to-research process, seeking to answer the following question: How do Master's Degree students learn through actual experience while conducting qualitative research on management related issues? Based on a theoretical reference related to teaching-learning, reflection and qualitative research, the study traced a methodological trajectory inspired by phenomenology and the socio-constructivist approach that favor a better experience for professors and students. We reached the conclusion that the experience of field research and the practice of public reflection in an on the field (a) increased the awareness of the participants concerning their importance in the teaching-learning process and (b) revealed two implications: it can help teaching staff in Master's Degree courses in management to reflect on their own practices and it can help Master's Degree managers to formulate policies for preparing staff and didactic-pedagogical policies.
Pharmacokinetics of Oxcarbazepine and Carbamazepine in Human Placenta

Summary: Purpose: To study the transfer and metabolism of oxcarbazepine (OCBZ) and 10‐hydroxy‐10,11‐dihydrocarbamazepine (10‐OH‐CBZ) and carbamazepine (CBZ) metabolism and its possible induction in human placenta.
El Papel de la Dimensión Colectiva en el Estudio de la Felicidad

Los estudios sobre felicidad incluyen diversas perspectivas, conceptualizaciones y factores asociados a este concepto; sin embargo, las investigaciones sobre felicidad con frecuencia se concentran en la dimension individual de la misma. El presente trabajo hace enfasis en la concepcion de la felicidad como un constructo multidimensional conformado por aspectos individuales y por aspectos colectivos. De manera que el proposito central del articulo es presentar un analisis sobre la dimension colectiva de la felicidad, la cual ha sido poco estudiada en el contexto latinoamericano. En particular este articulo busca enfatizar el papel de las relaciones afectivas, la conducta prosocial y la inversion en los demas, en la comprension de la felicidad. En las conclusiones se identifican tematicas relevantes asociadas a la dimension colectiva que permitiran ampliar la investigacion sobre la felicidad.
Regulation of Asymmetric Smooth Muscle Myosin II Molecules*

The emerging view of smooth/nonmuscle myosin regulation suggests that the attainment of the completely inhibited state requires numerous weak interactions between components of the two heads and the myosin rod. To further examine the nature of the structural requirements for regulation, we engineered smooth muscle heavy meromyosin molecules that contained one complete head and truncations of the second head. These truncations eliminated the motor domain but retained two, one, or no light chains. All constructs contained 37 heptads of rod sequence. None of the truncated constructs displayed complete regulation of both ATPase and motility, reinforcing the idea that interactions between motor domains are necessary for complete regulation. Surprisingly, the rate of ADP release was slowed by regulatory light chain dephosphorylation of the truncated construct that contained all four light chains and one motor domain. These data suggest that there is a second step (ADP release) in the smooth muscle myosin-actin-activated ATPase cycle that is modulated by regulatory light chain phosphorylation. This may be part of the mechanism underlying “latch” in smooth muscle.
Anti-cancer selection as a source of developmental and evolutionary constraints.

Recently at least two papers have appeared that look at cancer from an evolutionary perspective. That cancer has a negative effect on fitness needs no argument. However, cancer origination is not an isolated process, but the potential for it is linked in diverse ways to other genetically determined developmental events, complicating the way selection acts on it, and through it on the evolution of development. The two papers take a totally different line. Kavanagh argues that anti-cancer selection has led to developmental constraints. Leroi et al. argue that cancer is a side-effect of recent evolutionary changes that usually will disappear over time through anti-cancer selection. Here we place the papers in a wider perspective, and in so doing discuss various alternative developmental links cancer may have together with their evolutionary implications.
Der monströse Fouleuze: Eine philosophische Lektüre von Andrej Belyjs Petersburg

This paper deals critically with the posthumous interpretation of Foucault's work by Gilles Deleuze. The inquiry begins with Deleuze's claim that the late Foucault was a topologist like Andrei Bely in his modernist novel Petersburg. In order to illuminate this Deleuzian perspective, the author discusses the concepts of dispositif and chronotope. By analyzing a key scene from Petersburg, the paper concludes that Deleuze's notion of topology is closer to his own philosophical system than to Foucault's historical research.
Expression and regulation of genes associated with cell death during murine preimplantation embryo development

The newly fertilized preimplantation embryo depends entirely on maternal mRNAs and proteins deposited and stored in the oocyte prior to its ovulation. If the oocyte is not sufficiently equipped with maternally stored products, or if zygotic gene expression does not commence at the correct time, the embryo will die. One of the major abnormalities observed during early development is cellular fragmentation. We showed previously that cellular fragmentation in human embryos can be attributed to programmed cell death (PCD). Here, we demonstrate that the PCD that occurs during the 1‐cell stage of mouse embryogenesis is likely to be regulated by many cell death genes either maternally inherited or transcribed from the embryonic genome. We have demonstrated for the first time the temporal expression patterns of nine cell death regulatory genes, and our preliminary experiments show that the expression of these genes is altered in embryos undergoing fragmentation. The expression of genes involved in cell death (MA‐3, p53, Bad, and Bcl‐xS) seems to be elevated, whereas the expression of genes involved in cell survival (Bcl‐2) is reduced. We propose that PCD may occur by default in embryos that fail to execute essential developmental events during the first cell cycle. Mol. Reprod. Dev. 51:243–253, 1998. © 1998 Wiley‐Liss, Inc.
Isolation and enumeration of Campylobacter jejuni from poultry products by a selective enrichment method

A direct selective enrichment procedure was developed for the isolation of Campylobacter jejuni from poultry products. The selective enrichment medium (ATB) consisted of (per liter) tryptose (20 g), yeast extract (2.5 g), sodium chloride (5 g), FBP supplement (ferrous sulfate [0.25 g], sodium metabisulfite [0.25 g], sodium pyruvate [0.25 g]), bicine (10 g), and agar (1 g). Hematin solution (6.25 ml; prepared by dissolving 0.032 g of bovine hemin in 10 ml of 0.15 N sodium hydroxide solution and autoclaving at 0.35 kg/cm2 for 30 min), rifampin (25 mg), cefsulodin (6.25 mg), and polymyxin B sulfate (20,000 IU) were added after the medium was sterilized. The pH was adjusted to 8.0. Samples were enriched in the above medium at 42 degrees C for 48 h under an atmosphere of 5% O2, 10% CO2, and 85% N2. Enrichment cultures were streaked on a plating medium composed of Brucella agar, hematin solution, FBP supplement, and the above antibiotics. Plates were incubated under the same conditions as above. Suspect colonies from the plates were confirmed to be C. jejuni by morphological examination, growth characteristics, and biochemical tests. The above method yielded 25 isolates of C. jejuni from 50 samples of retail cut-up chicken and chicken parts, whereas a more complex method involving filtration, centrifugation, selective enrichment under a flowing atmosphere, and membrane filtration yielded only 6 positives from the same samples. The new isolation procedure was particularly effective in isolating C. jejuni in the presence of large numbers of Pseudomonas aeruginosa. (ABSTRACT TRUNCATED AT 250 WORDS)
Allantoin and Allantoic Acid in Tissues and Stem Exudate from Field-grown Soybean Plants.

Samples of stem exudate and plant tissue collected from field-grown soybean (Glycine max [L.] Merr.) plants were analyzed for allantoin and allantoic acid. Nitrogen in nitrate plus amino acids exceeded ureide N concentration in stem exudate prior to flowering. During all of reproductive development (from about 40 days after planting until maturity), ureide N concentration was two to six times greater than amino acid plus nitrate N concentration. Allantoin and allantoic acid, not asparagine, are the principal forms of nitrogen transported from nodulated roots to shoots of the soybean plant. During pod and seed development ureide N comprised as high as 2.3, 37.7, and 15.8% of total N in leaf blades, stems + petioles, and fruits, respectively. The concentration of ureide in stems and fruits declined to nearly zero at maturity.Maximum ureide concentration of exudate collected from soybean nodules was 5.3 milligrams N per milliliter (94 micromoles allantoin per milliliter). This result supports evidence published by others that the site of allantoin synthesis is the nodule.
Early post-operative prediction of morbidity and mortality after a major liver resection for colorectal metastases.

BACKGROUND An early prediction of poor outcomes is essential in the management of patients after a liver resection. The aim of this study was to evaluate the role of selected biochemical parameters on post-operative day 1 (POD 1) in the prediction of morbidity and mortality after a liver resection for colorectal metastases. METHOD This retrospective study was based on 236 major liver resections for colorectal metastases performed between 2006 and 2011. Results of biochemical tests of blood samples obtained on POD 1 were assessed as predictors of primary outcome measures (hepatic and overall morbidity, 90-day mortality) using multiple regression and receiver-operating characteristics (ROC). RESULTS Hepatic morbidity, overall morbidity and 90-day mortality rates were 18.6%, 28.0% and 4.7%, respectively. On the basis of multiple regression analysis and comparisons of the prediction models, serum bilirubin was selected for the prediction of hepatic (>2.05 mg/dl, sensitivity 69.2%, specificity 71.2%) and overall (>2.05 mg/dl, sensitivity 61.1% and specificity 71.2%) morbidity, and aspartate aminotransferase (AST) was selected for the prediction of 90-day mortality (>798 U/l, sensitivity 62.5% and specificity 90.4%). DISCUSSION Biochemical analyses of blood on POD1 enables stratification of patients into low- and high-risk groups for negative outcomes, with serum bilirubin associated with overall and hepatic morbidity and AST associated with mortality.
In this issue: Role of immune cells, immune modulating factors and immunotoxins in cancer immunotherapy

The host immunity is not only critical for defense againt infections but it also plays a pivotal role in early removal of transformed or neoplastic cells induced by dysregulation of proto-oncogenes. Immune cells such as macrophages, dendritic cells, natural killer (NK) cells, cytotoxic T cells, etc. can recognize a wide range of neoplastic cells and induce cell death via triggering anti-tumor cytokines or effector molecules; conversely, dysregulation of some immune cells and factors can also promote oncogenesis. This issue of the International Reviews of Immunology showcases the interaction of transformed cells with immunity, and the potential of immune cells or associated factors in the development of anti-cancer immunotheraputics. Additionally, this issue discusses the impact of maternal hormones on immunity of developing offspring (Fig. 1). NK cells induce cell death of virally infected and transformed cells by a process known as antibody-dependent cell-mediated cytotoxicity (ADCC). In the first review of this issue, Preethy et al highlighted the potential of NK cells in development of novel therapeutics against solid and blood tumors. The article discusses extensively protocols for expansion of autologous and allogenic NK cells and benefits of cell-based thearapy in combination with radioand/or chemotheraphy. This article, increasing the current knowledge of cell-based therapies, may be of interest to both oncologists, immunologists and clinicians(Fig. 1).
MYO 1 F as a Candidate Gene for Nonsyndromic Deafness , DFNB 15

Background: Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea and maps to chromosome 19p13.3-13.2.
Altered methionine metabolism occurs in all members of a set of diverse human tumor cell lines

Methionine dependence is a metabolic defect found thus far only in transformed and malignant cells. The defect is manifested as the inability of cells to grow in media in which methionine (Met) is replaced by its immediate precursor homocysteine (Hcy). We have termed this Met − Hcy + media. We demonstrate here that methionine‐dependent cells derived from human tumors, compared to normal methionine‐independent cells, have low levels of free Met, low levels of S‐adenosylmethionine (AdoMet) and elevated levels of S‐adenosylhomocysteine (AdoHcy) when incubated in Met − Hcy + medium. Methionine‐independent human tumor cells also have very low levels of free Met compared to normal cells but generally have levels of AdoMet and AdoHcy comparable to normal cells in Met − Hcy+ medium. All tumor cell types incorporate amounts of Met into protein similar to normal methionine‐pindependent human fibroblasts when incubated in Met − Hcy+ medium, thereby indicating apparently normal levels of Met synthesis in the tumor cells. The methionine‐independent tumor cell lines in Met − Hcy+ medium seem able to regulate their AdoMet/AdoHcy ratios normally despite this defect in having very low levels of free Met. Thus, in a diverse set of human tumor cell lines, all are defective in at least one aspect of Met metabolism, giving rise to the possibility of a general metabolic defect in cancer.
Phonetic Typology and Positional Allophones for Alveolar Rhotics in Catalan

Abstract The present study reports electropalatographic and acoustic data on the positionaland contextual characteristics of alveolar taps and trills in Majorcan,Valencian and Eastern Catalan. The two consonant classes are invariably opposedby degree of tongue dorsum contact and F2, but only differentiated by place ofarticulation when constriction location for the trill is sufficiently retracted. Trillsare produced with less than three contacts and may exhibit a single contact inutterance-initial position and, less often, in /Cr, VrV/ sequences. Word-final and, toa lesser extent, preconsonantal rhotics are implemented as taps in Majorcan andValencian, and strengthened into trills in Eastern Catalan. Moreover, thereappears to be an inverse relationship between initial strengthening, and intervocalicweakening and the absence of syllable-final strengthening, for Valencianrhotics, which could be indicative of a pattern of intersegmental organization.Shortening and articulatory reduction turned out not to be necessarily related forextremely short Valencian taps, which undergo much undershoot intervocalicallybut are highly constricted in /Cɾ , rC/ sequences. Other research aspects suchas devoicing and intergestural timing for Catalan alveolar rhotics are alsoinvestigated.
Estimation of Premorbid Intelligence: The Word Accentuation Test - Buenos Aires Version

We have sought to adapt and validate a NART-like Spanish test, the Word Accentuation Test (WAT: Del Ser, Montalvo, Espinosa, Villapalos, & Bermejo, 1997) to estimate acquired intelligence in local normal older adults. The test requires examinees to read aloud infrequent, irregularly stressed Spanish words, a situation that presumably requires lexical knowledge. Results in a sample of 74 participants show that the revised WAT (i.e., the WAT for Buenos Aires) has good concurrent validity with the WAIS Vocabulary subtest and number of years of formal education, as well as high internal consistency. Performance on this test was dissociated from age, memory, or frontal/executive measures.
Happy Eyeballs: Success with Dual-Stack Hosts

When a server's IPv4 path and protocol are working, but the server's IPv6 path and protocol are not working, a dual-stack client application experiences significant connection delay compared to an IPv4-only client. This is undesirable because it causes the dual- stack client to have a worse user experience. This document specifies requirements for algorithms that reduce this user-visible delay and provides an algorithm. [STANDARDS-TRACK]
Optimality Conditions via Exact Penalty Functions

In this paper, we study KKT optimality conditions for constrained nonlinear programming problems and strong and Mordukhovich stationarities for mathematical programs with complementarity constraints using $l_p$ penalty functions, with $0\leq p\leq1$. We introduce some optimality indication sets by using contingent derivatives of penalty function terms. Some characterizations of optimality indication sets are obtained by virtue of the original problem data. We show that the KKT optimality condition holds at a feasible point if this point is a local minimizer of some $l_p$ penalty function with $p$ belonging to the optimality indication set. Our result on constrained nonlinear programming includes some existing results from the literature as special cases.
NAT2 polymorphisms and risk for Parkinson’s disease: a systematic review and meta-analysis

ABSTRACT Introduction: Several studies suggested a possible association between certain polymorphisms in the N-acetyl-transferase 2 (NAT2) gene (which encodes a very important enzyme involved in xenobiotic metabolism) and the risk for Parkinson’s disease (PD). As the results of studies on this issue are controversial, we conducted a systematic review and a meta-analysis of eligible studies on this putative association. Areas covered: The authors revised the relationship between NAT2 polymorphisms and the risk of developing PD using several databases, and performed a meta-analysis using the software Meta-Disc1.1. 1. In addition heterogeneity between studies was analyzed. A description of studies regarding gene-gene interactions and gene-environmental interactions involving NAT2 polymorphisms is also made. Expert opinion: Despite several recent meta-analyses showing an association between several polymorphisms in genes related with detoxification mechanisms such as cytochrome P4502D6 (CYP2D6), and glutathione transferases M1 and T1 (GSTM1, and GSTT1), data on NAT2 gene polymorphisms obtained from the current meta-analysis do not support a major association with PD risk, except in Asian populations. However, data from many studies are incomplete and therefore insufficient data exists to draw definitive conclusions. Several studies suggesting gene-gene and gene-environmental factors involving NAT2 gene in PD risk await confirmation.