Miracle-dz/UniFAR-FTUs huggingface dataset:
Association of the Tag SNPs in the Human SKT Gene (KIAA1217) With Lumbar Disc Herniation

Lumbar disc herniation (LDH) is one of the most common musculo‐skeletal diseases. Recent studies have indicated that LDH has strong genetic determinants, and several susceptibility genes have been reported to associate with LDH; however, its etiology and pathogenesis still remain unclear. KIAA1217 (alias SKT, the human homolog of murine Skt [Sickle tail]) is a good candidate for an LDH susceptibility gene because SKT is specifically expressed in nucleus pulposa of intervertebral discs (IVDs) in humans and mice, and SktGt mice, which are established through a large‐scale gene‐trap mutagenesis, exhibit progressive, postnatal onset abnormality of the IVDs. Here, we report the association of SKT with LDH. Using tag SNPs, we examined the association in two independent Japanese case‐control populations and found a significant association with SKT rs16924573 in the allele frequency model (p = 0.0015). The association was replicated in a Finnish case‐control population (p = 0.026). The combined p value of the two population by meta‐analysis is 0.00040 (OR, 1.34; 95% CI, 1.14–1.58). Our data indicate that SKT is involved in the etiology of LDH.
Swimming and jumping in a semi-aquatic frog

Locomotion has a clear ecological relevance for many animals. As animals need to move in order to escape from predators, find food, defend territories, etc., it is expected that locomotor performance might affect an individual's survival and reproduction. Clear links have also been found between an animal's performance and its morphology. A function analysis can unravel the underlying mechanistic facets of this link. Frogs are interesting model species because they add an extra element to this topic; they have to perform in two entirely different physical environments, particularly semi-aquatic species. However, no trade-off was found between jumping and swimming performance. Morphological correlates were found but. to understand causations, a thorough understanding of the mechanics of locomotion is required. When comparing the mechanics of jumping and swimming, the question arises of how to ensure a sound comparison. Ideally, some measure of 'effort' has to be added to the analysis. We suggest the use of the propulsive impulse. Unexpectedly, the impulse of: swimming proved to be significantly smaller than the jumping impulses during locomotion in a semi-aquatic frog, Rana esculenta, even when maximal performance had been induced in both media. To verify our impulse calculations, we analysed the external forces during both locomotor modes. The forces during, terrestrial locomotion can be measured directly using a force plate; determining the forces in water requires a more complex set-up. For that reason, we performed a DPIV (Digital Particle Image Velocimetry) analysis on the flow generated by swimming frogs. These experiments confirmed the results of our impulse calculations.
Emerging trends and risk factors for perianal surgery in Crohn’s disease: a 20-year national population-based cohort study

Background Little is known about the rates of perianal surgery (PAS) in Crohn’s disease (CD). Our aim was to determine trends in PAS, the timing of surgery relative to the diagnosis of CD and to identify subgroups at risk of PAS. Materials and methods We identified 9391 incident cases of CD between 1989 and 2009. We defined three eras: era 1 (1989–1995), era 2 (1996–2002) and era 3 (2003–2009), and determined trends in procedure type and the time to first PAS relative to the date of diagnosis. We used Kaplan–Meier analysis to calculate the rate of first PAS and performed Cox regression to determine subgroups at risk of PAS. Results Among the 9391 incident cases of CD, 405 (4.3%) underwent PAS. The overall rate of PAS was 5.5% [95% confidence interval (CI): 4.9–6.2%] 10 years after diagnosis. 34% (n=137) of all patients undergoing PAS had surgery in the 5 years before CD diagnosis. Abscess drainage increased from 34 to 58%, whereas proctectomy decreased from 16 to 6% between eras 1 and 3, respectively. Men [hazard rate (HR) 1.51, 95% CI: 1.24–1.84], those aged 17–40 years (HR 1.69, 95% CI: 1.09–2.02 vs. those aged >40 years) and those with a history of previous intestinal resection (HR 28.5, 95% CI: 22.2–36.5) were more likely to have PAS. Conclusion Around one-third of patients have a PAS in the 5 years preceding their diagnosis of CD. Surgical practice has changed over 20 years, with a decrease in proctectomy and a concurrent increase in abscess drainage that is likely to reflect improvements in therapeutic practice.
ABO blood group as a potential risk factor for venous thromboembolism in acutely injured patients

Summary Venous thromboembolism (VTE) is a major health problem that results in a significant burden on hospitals and patients. VTE screening and prophylaxis protocols in trauma patients vary significantly among hospitals and providers. In addition, many patients develop VTE even in the absence of “high-risk” categories. Therefore, more research is needed to better understand and prevent VTE in these patients. ABO blood group has long been recognised as a risk factor for VTE, but its contribution to VTE risk in the trauma setting is poorly studied. This paper reviews the literature describing the link between ABO blood group and VTE risk and the implications for VTE screening and prophylaxis in trauma patients. The effect of ABO blood groups are genotype-dependent – in most populations the A1 allele and the B allele increase risk while A2, O1, and O2 decrease risk of VTE. ABO group is a major determinant of plasma von Willebrand factor (vWF) and factor VIII levels, thereby (partially) mediating the effects of ABO blood group on VTE susceptibility. In addition, ABH antigens alter plasma levels of vWF via clearance mechanisms, which are in turn mediated by ADAMTS13. ABO blood group is a risk factor for VTE that warrants further investigation in trauma patients.
Exposition cumulée aux contaminants de l'air intérieur susceptibles d'induire des affections respiratoires chroniques de l'enfant

Depuis quatre decennies, la prevalence des affections respiratoires chroniques de l'enfant a considerablement augmente dans les pays developpes. Les conditions de survenue de ces affections sont complexes, mais de nombreux travaux suggerent la contribution importante de l'exposition par inhalation aux polluants de l'air interieur. Dans ce contexte, cette these vise a evaluer l’exposition cumulee a une gamme de polluants chimiques et biologiques de l’air interieur dans un echantillon donne de logements. Il a egalement pour objectif de creer une typologie des logements en fonction de leur multi-contamination, et vise a construire des modeles explicatifs des concentrations des polluants en fonction des caracteristiques de l’habitat et des habitudes de vie des occupants.Une enquete environnementale a ete menee dans 150 logements issus de la cohorte Pelagie, suivie en Bretagne depuis 2002. Des prelevements ont permis de mesurer la concentration de 8 aldehydes, 4 THM, 22 autres COV, 9 COSV et 4 genres de moisissures dans l’air de ces logements. Celles-ci, ainsi que 4 allergenes ont egalement ete doses dans des echantillons de poussieres. Les parametres d’ambiance (temperature, humidite relative et dioxyde de carbone) ont ete mesures. Un questionnaire renseigne par les familles a permis de collecter des informations sur les logements et leurs occupants : structure et historique du bâtiment, revetements, menage, chauffage, aeration, utilisation de certains produits ou realisation d’activites particulieres. Ces donnees ont ete analysees par des approches statistiques multivariees, et des modeles de regression lineaire et logistique ont ete mis en oeuvre pour relier les concentrations des contaminants aux caracteristiques des logements. Ces mesures ont mis en evidence une contamination importante et systematique des logements par une grande part des contaminants chimiques et biologiques, a des niveaux parfois eleves au regard d’etudes comparables et des valeurs guides lorsqu’elles existent. Des analyses en composantes principales ont permis de mettre en evidence des sous-groupes de composes qui ont pu etre interpretes en termes de sources, et de selectionner un certain nombre de composes traceurs representatifs de chaque sous-groupe. Une analyse factorielle multiple a permis de repartir les logements en 7 classes, chacune presentant un profil de multi-contamination particulier. Enfin, les modeles de regression lineaire et logistique construits pour les composes traceurs permettent d’expliquer entre 5 et 60% de la variabilite des concentrations, et mettent en evidence la multiplicite des sources, l’importance de la description precise des environnements interieurs, et l’impact des parametres d’ambiance sur ces concentrations. Ce travail decrit donc une contribution importante a l’evaluation des expositions aux contaminants de l’air interieur et fournit un certain nombre d’elements quant a la prediction des expositions dans les environnements interieurs.
Domestic violence against women--perspective from Pakistan.

OBJECTIVE Domestic violence is an important public health concern. This study assessed the prevalence and type of domestic violence perpetrated by men on their wives. SETTING The study was conducted in a public sector hospital among men accompanying patients. METHODS A cross-sectional survey based on a sample of convenience was conducted by the author, using a pre-tested questionnaire with mostly close-ended questions. RESULTS All the respondents admitted to ever shouting or yelling at their wives, including while she was pregnant. Twenty-three (32.8%) respondents admitted to ever having slapped their wives and 54 (77.1%) admitted to ever engaging in a non-consensual sex with their wives. CONCLUSION Population based studies are required to assess the type, frequency, risk factors and sequel of wife abuse, so as to establish practice guidelines.
Reduced central serotonin transporters in alcoholism.

OBJECTIVE Dysfunction of monoamine uptake mechanisms has been implicated in the pathogenesis of alcohol dependence. The authors explored whether serotonergic dysfunction is associated with anxiety and depression, which increase the risk of relapse in alcoholics. METHOD The availability of serotonin and dopamine transporters in 22 male alcoholics and 13 healthy male volunteers was measured with the use of [123I] beta-CIT and single photon emission computed tomography, and psychopathological correlates were assessed. RESULTS A significant reduction (a mean of about 30%) in the availability of brainstem serotonin transporters was found in the alcoholics, which was significantly correlated with lifetime alcohol consumption and with ratings of depression and anxiety during withdrawal. CONCLUSIONS The findings support the hypothesis of serotonergic dysfunction in alcoholism and in withdrawal-emergent depressive symptoms.
Un étiqueteur de rôles grammaticaux libre pour le français intégré à Apache UIMA

L’étiquetage des rôles grammaticaux est une tâche de pré-traitement récurrente. Pour le français, deux outils sont majoritairement utilisés : TreeTagger et Brill. Nous proposons une démarche, ne nécessitant aucune ressource, pour la création d’un modèle de Markov caché (HMM) pour palier les problèmes de ces outils, et de licences notamment. Nous distribuons librement toutes les ressources liées à ce travail.
Occupational applications of a human cancer research model.

Many bladder cancers are indolent, and since there are no biomarkers to predict progression, the prognosis is problematic. Utilizing an in vitro/in vivo human uroepithelial cell (SV-HUC.PC) transformation system, we investigated several molecular events occurring along the continuum of exposure to disease outcome as potential biomarkers for occupational carcinogenesis. The model also served to generate information on the occupational carcinogenicity of N-hydroxy-4,4'-methylene bis(2-chloroaniline) [N-OH-MOCA]. Two of 14 groups of SV-HUC.PC treated with various concentrations of N-OH-MOCA formed carcinomas in athymic nude mice. Each of the biomarkers investigated demonstrated potential for interventions/prevention applications of occupational bladder cancers but will require validation and further evaluation. Those investigated displaying potential occupational utility included the induction of ornithine decarboxylase (ODC), DNA adducts, and altered proteins, as detected on HUC two-dimensional polyacrylamide gel electrophoresis protein maps.
Manejo anestésico para paciente con labio y paladar hendidos

Hablando un poco de historia, en 1847 John Show comenzo a usar cloroformo para anestesiar a pacientes para reparacion de fi suras labiales, esta tecnica se utilizo en 147 pacientes entre 3 y 6 semanas de vida, en la literatura se menciona cierre de paladar hasta 1850 en la revista Lancet en un paciente masculino de 7 anos en el cual se realiza el cierre del labio y del paladar con un intervalo de una semana entre una cirugia y otra, la desventaja con el uso del cloroformo era la nausea y vomito postoperatorio que presentaban los pacientes, Magill en 1921 fue el primero en introducir un cateter endotraqueal para este tipo de cirugias; con el advenimiento del halotano y la pieza en T, este tipo de cirugias se volvio mas facil y con menores riesgos, para 1958 se logro limitar el sangrado transoperatorio con la administracion de adrenalina en el sitio quirurgico, volviendose un metodo practico y efectivo. La anestesia para labio y paladar hendidos esta asociada con multiples complicaciones, por lo que se han disenado algunas guias para mantener la seguridad de los pacientes sometidos a estas cirugias bajo anestesia general(1). El anestesiologo debe de estar familiarizado con este tipo de casos, con la monitorizacion y el manejo anestesico del paciente pediatrico; la incidencia de labio y paladar hendidos es de 1:800 y debido a las complicaciones perioperatorias de la via aerea principalmente, este tipo de procedimientos se han vuelto un reto para el anestesiologo, se reporta una incidencia de complicaciones relacionadas con la via aerea de un 4 a un 38%(2). Hay varios factores, primero tenemos los relacionados con el paciente (edad, peso, los relacionados con la via aerea del paciente, los antecedentes medicos, presencia de anormalidades craneofaciales siendo las mas frecuentes el sindrome de Pierre Robin, sindrome de Treacher Collins y sindrome de Goldenhar)(3). La incidencia de cardiopatias asociadas con el labio y paladar hendidos es de un 5 hasta un 10%(3) y tambien tenemos los relacionados con el procedimiento (la tecnica quirurgica, la duracion del procedimiento, la tecnica anestesica), se dice que las complicaciones se presentan con mayor frecuencia en el personal poco familiarizado con el procedimiento, el personal debe de estar perfectamente adiestrado en el manejo de la via aerea pediatrica, accesos venosos, resucitacion hidrica y cardiovascular avanzada(1).
Accurate design of Digital Fractional Order differentiators using Improved Particle Swarm Optimization

Design of accurate, wideband, and infinite impulse response (IIR) type Digital Fractional Order Differentiators (DFODs) based on a swarm intelligence based algorithm called Improved Particle Swarm Optimization (IPSO) is presented in this paper. As compared with DFODs based on three benchmark evolutionary optimization algorithms, namely Real Coded Genetic Algorithm (RGA), Particle Swarm Optimization (PSO), and Differential Evolution (DE), the IPSO based designs achieve the most accurate approximation to the ideal fractional order differentiator. The proposed DFODs also significantly outperform all state-of-the-art designs in terms of different magnitude response error metrics.
Elastic-Arm: Human-scale passive haptic feedback for augmenting interaction and perception in virtual environments

Haptic feedback is known to improve 3D interaction in virtual environments but current haptic interfaces remain complex and tailored to desktop interaction. In this paper, we introduce the “Elastic-Arm”, a novel approach for incorporating haptic feedback in immersive virtual environments in a simple and cost-effective way. The Elastic-Arm is based on a body-mounted elastic armature that links the user's hand to her shoulder. As a result, a progressive resistance force is perceived when extending the arm. This haptic feedback can be incorporated with various 3D interaction techniques and we illustrate the possibilities offered by our system through several use cases based on well-known examples such as the Bubble technique, Redirected Touching and pseudo-haptics. These illustrative use cases provide users with haptic feedback during selection and navigation tasks but they also enhance their perception of the virtual environment. Taken together, these examples suggest that the Elastic-Arm can be transposed in numerous applications and with various 3D interaction metaphors in which a mobile hap-tic feedback can be beneficial. It could also pave the way for the design of new interaction techniques based on “human-scale” egocentric haptic feedback.
Anesthetic blocking of nerve membrane conductances by internal and external applications.

Dibucaine hydrochloride, pentobarbital sodium, tropine p-tolyl acetate hydrochloride (tertiary form), and tropine p-tolyl acetate methiodide (quaternary form) reversibly blocked both peak transient and steadystate components of conductance changes from either side of the squid nerve membrane. With external and internal applications of dibucaine and with internal application of the tertiary topine, the steady-state current declined somewhat, leaving a “hump. ” The time to the early peak transient current was unaffected by either external or internal application of dibucaine, but prolonged by either external or internal application of pentobarbital. The curve relating the peak transient conductance to the membrane potential was shifted along the potential axis in the direction of depolarization by external or internal application of pentobarbital. It is suggested that the mechanism of blockage of the peak transient conductance by these anesthetic agents is different from that by tetrodotoxin or by uncharged lipid-soluble chemicals.
Prevención de los trastornos cardiovasculares: una propuesta de actuación desde la actividad física y el entrenamiento psicológico

Dada la situacion cada vez mas grave que supone la incidencia de los problemas cardiovasculares en los indicadores de morbimortalidad, y partiendo de trabajos anteriores en los que se comprobo la eficacia de los programas de entrenamiento psicologico en personas con cardiopatia especifica, en este trabajo se presentan algunas propuestas para mejorar el diseno y desarrollo de dichos programas, de tal suerte que sea posible concretar un programa integral de entrenamiento psicologico y de actividad fisica en esta poblacion, que habitualmente solo recibe tratamientos de indole medica. Se discuten, asi mismo, las estrategias a futuro para mejorar continuamente los citados programas.
A Prospective Study of C-Peptide, Insulin-like Growth Factor-I, Insulin-like Growth Factor Binding Protein-1, and the Risk of Colorectal Cancer in Women

Hyperinsulinemia, hyperglycemia, and elevated insulin-like growth factor (IGF)-1 levels have been implicated in the etiology of colorectal cancer. However, the joint effects of insulin and IGF-I have not been considered, and whether hyperinsulinemia or hyperglycemia is more etiologically relevant is unclear. IGF binding protein-1 (IGFBP-1) has been hypothesized to mediate the effects of insulin, but epidemiologic data on IGFBP-1 are sparse. We conducted a nested case-control study among the 32,826 women of the Nurses' Health Study who provided a blood sample in 1989 to 1990. After excluding diabetics, we confirmed 182 incident colorectal cancer cases over 10 years of follow-up and 350 controls. Cases were matched to two controls on year of birth, date of blood draw, and fasting status. C-peptide levels were weakly associated with risk of colon cancer [top quartile (Q4) versus bottom quartile (Q1): multivariable relative risk (MVRR), 1.76; 95% confidence interval (95% CI), 0.85-3.63]. Fasting IGFBP-1 was inversely associated with risk of colon cancer (MVRR, 0.28; 95% CI, 0.11-0.75). We observed no clear association between glycosylated hemoglobin and risk for colorectal cancer. The IGF-I to IGFBP-3 molar ratio was associated with colon cancer risk (MVRR, 2.82; 95% CI, 1.35-5.88), and women with low levels of both IGF-I/IGFBP-3 and C-peptide (or high IGFBP-1) were at low risk, and elevation of either was sufficient to increase risk. Although altering IGF-I levels may not be practical, the growing burden of obesity and consequently hyperinsulinemia, which seems increasingly important for colon cancer, may be a target for effective prevention.
Model-Dependent Versus Model-Free Versus Nonparametric Tests

This unit covers statistical methods of linkage analysis that do not require the assumption of a detailed genetic model, as is required for standard lod score analysis. The unit has been updated to include the latest methods in sib-pair analysis, including updates to using the software program SIBPAL as well as the relative-pair analysis software applications GENEHUNTER, GENEHUNTER PLUS, and Merlin. Curr. Protoc. Hum. Genet. 75:1.8. 1-1.8. 32. C © 2012 by John Wiley & Sons, Inc.
Robot coordination to create collaborative panoramic images

In this work, we deal with the problem of coordinating a set of autonomous agents equipped with cameras whose goal is to obtain a panoramic image. To this end, we optimize a multi-objective cost function that accounts for elements such as the number of matched points between the images, the distance between the agents, and the distance to a certain point of interest. Basic solutions for this problem are presented considering two different approaches: centralized and distributed coordination of the agents. For both approaches results are presented and assessed via simulation by using extensive search and heuristic methods.
Gastrointestinal stromal tumors: Cytomorphologic spectrum in fine needle aspiration smears.

OBJECTIVE To study the variation in the cytologic features of gastrointestinal stromal tumors (GISTs) at different sites targeted by different modalities. STUDY DESIGN Cytologic smears of 9 cases of gastrointestinal stromal tumors were reviewed with their histopathologic follow-up. Immuno-cytochemistry was performed where possible. RESULTS The study includes eight males and one female patient with an age range of 42 to 71 years. There were four classical cases of gastrointestinal stromal tumors that showed tight cellular bundles and fascicles of slender spindle cells with scant cytoplasm. The cytological features of three recurrent and one malignant case included moderately to markedly pleomorphic, plump spindle to ovoid cells with variable chromatin pattern and variable pale blue to vacuolated cytoplasm, present in loose clusters and singly. There was one case with classical gastrointestinal stromal tumor cytology but myxoid stroma. All other cases were confirmed with either CD117 immunostain and/or histopathology. Benign mucosal fragments from stomach or duodenal mucosa were observed in smears obtained by endoscopic ultrasound - fine needle aspiration (EUS FNA). CONCLUSION The variability in cytologic features in GIST implies that a diagnosis of gastrointestinal stromal tumor should be rendered on cytology only in conjunction with immune-cytochemistry result of CD117.