Miracle-dz/UniFAR-FTUs huggingface dataset:
Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome

According to classical genetics, a recessive sex-linked or X-linked gene manifests its existence phenotypically only in the absence of its normal allele, that is, in the homozygous state or in the absence of a second X chromosome carrying the normal allele. The latter requirement is met, for instance, in males who have haemophilia as a sex-linked trait: they have only one X chromosome in their XY chromosome complement. In females with the usual XX sex-chromosome composition a gene such as the haemophilia gene is not able to manifest itself, as it is neutralized by the presence of its normal allele on the second X. The situation is different in XO females: as in XY males, all recessive genes carried by the single X chromosome can freely express themselves. The case reported here is that of a girl with Turner's syndrome and Duchenne type muscular dystrophy. Chromatin negative Turner's syndrome is usually the consequence of a complete or partial (mosaic) XO sex-chromosome complement. Duchenne type muscular dystrophy usually appears to be sex-linked (Morton, Chung, and Peters, I963; Boyer and Fainer, I963; Walton, I964). The present case offers cytogenetical evidence in support of sex linkage and of a permissive effect of abnormal sex-chromosome complement with regard to muscular dystrophy.
Electrophysiologic effects of salbutamol, a beta2-selective agonist.

INTRODUCTION A positive chronotropic effect of beta2 stimulation is well known. Case reports of ventricular arrhythmias during beta2-inhalation therapy have been published. The aim of this study was to asses the overall electrophysiologic effects of the beta2-agonist salbutamol. METHODS AND RESULTS Electrophysiologic and hemodynamic variables were measured in 10 healthy volunteers during atrial pacing at baseline and during infusion of salbutamol at two different rates (0.1 and 0.2 microg/kg/min). To characterize beta2-agonist effects, a comparison was made with the beta1-selective agonist dobutamine. Salbutamol infusion produced significant changes in electrophysiologic properties in both myocardial and nodal tissues, with significantly greater effects on nodal properties. The proportional decreases in AV nodal parameters were more pronounced than in the sinus node (P < 0.001). An interesting result was a significant increase in the duration of the QS interval, which in the presence of an unchanged His-Purkinje conduction (HV) represents slower depolarization of the ventricle. QT dispersion also increased. CONCLUSION Infusion of salbutamol results in significant electrophysiologic effects on most heart structures, proportionally most pronounced in the AV node. Discordant effects on ventricular conduction, which slowed, and the refractoriness of the ventricular myocardium, which shortened, were seen. QT dispersion was increased.
Early Weightbearing and Range of Motion Versus Non-Weightbearing and Immobilization After Open Reduction and Internal Fixation of Unstable Ankle Fractures: A Randomized Controlled Trial

Objectives: The aim of this study was to compare early weightbearing and range of motion (ROM) to nonweightbearing and immobilization in a cast after surgical fixation of unstable ankle fractures. Design: Multicentre randomized controlled trial. Setting: Two-level one trauma centers. Patients: One hundred ten patients who underwent open reduction and internal fixation of an unstable ankle fracture were recruited and randomized. Intervention: One of 2 rehabilitation protocols: (1) Early weightbearing (weightbearing and ROM at 2 weeks, Early WB) or (2) Late weightbearing (nonweightbearing and cast immobilization for 6 weeks, Late WB). Main Outcome Measurements: The primary outcome measure was time to return to work (RTW). Secondary outcome measures included: ankle ROM, SF-36 heath outcome scores, Olerud/Molander ankle function score, and rates of complications. Results: There was no difference in RTW. At 6 weeks postoperatively, patients in the Early WB group had significantly improved ankle ROM (41 vs. 29, P < 0.0001); Olerud/Molander ankle function scores (45 vs. 32, P = 0.0007), and SF-36 scores on both the physical (51 vs. 42, P = 0.008) and mental (66 vs. 54, P = 0.0008) components. There were no differences with regard to wound complications or infections and no cases of fixation failure or loss of reduction. Patients in the Late WB group had higher rates of planned/performed hardware removal due to plate irritation (19% vs. 2%, P = 0.005). Conclusions: Given the convenience for the patient, early improved functional outcome, and the lack of an increased complication rate, we recommend early postoperative weightbearing and ROM in patients with surgically treated ankle fractures. Level of Evidence: Therapeutic Level I. See Instructions for Authors for a complete description of levels of evidence.
Face Recogition by Using Gabor Feature Extraction and Neural Networks

Face recognition is successful by using Gabor filter and neural networks. In this paper we present a biometric system of face detection and recognition in color images. In this 40 different Gabor filters are applied on an image will result 40 different images with different orientations. This paper addresses a novel algorithm in order to detect face features and extract their corresponding geometric points. In those 40 filtered images maximum intensity points are calculated and mark them as fiducially points. To reduce those Fiducially points distance between those points is considered. By using distance formula distances between those reduced points are calculated. Then distances between them are compared with the pre-defined database. If that distance exists that corresponding image will be recognized. The image will be convolved with Gabor filters by multiplying the image by Gabor filters in frequency domain. Face detection and recognition has many applications in a variety of fields such as security systems, video conferencing and identification. The neural Network employed for face recognition is based on the Multi Layer Perception (MLP) architecture.
Scientific approaches to address challenges in coastal management

Anthropogenic activity has a negative impact on many coastal ecosystems, compromis- ing the significant direct and indirect socio-economic benefits provided in these areas. Maintaining activities that depend on coastal zones while preserving the ecological state of the ecosystems repre- sents a management challenge. Management of coastal zones requires scientifically based knowl- edge, due to the complexity of the ecological processes which occur in these ecosystems and because of interaction with the socio-economic system. The effectiveness of coastal management instruments and programmes needs to be evaluated to determine the success of adopted measures and to estab- lish improved goals. Some of the research areas that can support coastal management include marine spatial planning, ecological modelling, development of tools to communicate science to managers, and interaction between coastal ecosystems and socio-economics. This paper reviews management instruments to address coastal zone problems and of some research areas to support management.
Active interference cancellation based optimal power loading for OFDM cognitive radio

Active interference cancellation (AIC) is an effective spectral shaping technique for orthogonal frequency division multiplexing (OFDM)-based systems. In this paper, we propose an AIC-based optimal power loading scheme that aims to maximize the downlink transmission capacity of an OFDM-based cognitive radio (CR) system operating opportunistically within the licensed primary users (PUs) radio spectrum in an overlay approach. Since the CR transmitter may not have the perfect knowledge about the instantaneous channel quality between itself and the active PUs, the interference constraints imposed by each of the PUs are met in a statistical sense. For a given power budget at the CR transmitter and the prescribed statistical interference constraints by the PUs, the presented simulation results show that a relatively much higher transmission capacity can be achieved by the OFDM CR user when power allocation is augmented with AIC-based spectral shaping.
A Least-Squares Filter Design Technique for the Compensation of Frequency Response Mismatch Errors in Time-Interleaved A/D Converters

This paper introduces a least-squares filter design technique for the compensation of frequency response mismatch errors in M-channel time-interleaved analog-to-digital converters. The overall compensation system is designed by determining M filter impulse responses analytically through M separate matrix inversions. The proposed technique offers an alternative to least-squares techniques that determine all filters simultaneously. Several design examples are included for illustration.
Remarks on real-time human posture estimation from silhouette image using neural network

This work proposes a human body posture estimation method from image, using ANN. The input feature vector of the ANN is composed with the result of analyzing a human silhouette image and the output vector of the ANN indicates the 2D coordinates of the human body's significant points, such as head, shoulders, hands, elbows, knees, and feet. The proposed estimation method is implemented on a personal computer and runs in real-time. By using the estimated results, the estimated human posture is reconstructed with a stick figure in the real time application. Experimental results show both the feasibility and the effectiveness of the proposed method for estimating human body postures.
Integrin αvβ3 promotes vitronectin gene expression in human ovarian cancer cells by implicating rel transcription factors

We previously showed that integrin αvβ3 expression upon engagement by its major ligand vitronectin (VN) correlated with enhanced human ovarian cancer cell adhesion, motility, and proliferation, by triggering intracellular signaling events, ultimately leading to altered gene expression. In the present study, we characterized cellular VN expression as a function of αvβ3 and noticed significant upregulation of VN protein which was reflected by elevated VN gene transcription. In order to identify specific transcription factors involved in the αvβ3‐regulatory effect on VN, we generated different VN promoter mutants. We noticed that disruption of the DNA consensus motif for Rel proteins did not only prominently reduce VN promoter activity but, moreover, led to a loss of responsiveness to αvβ3, suggesting a crucial role of Rel proteins in αvβ3‐provoked VN induction. In cell migration studies, we confirmed increased cell motility as a function of αvβ3/VN which was further enhanced by raising cellular Rel transcription factor levels. Thus, the data of the present study elucidated a positive feedback regulatory loop on VN expression by αvβ3 implicating transcription factors of the Rel family. Hence by altering the composition of the extracellular matrix upon additional VN synthesis and deposition, tumor cells might be enabled to modulate their surrounding reactive microenvironment towards enhanced αvβ3/VN‐interactions and, consequently, intrinsic intracellular signaling events affecting cancer progression. J. Cell. Biochem. 112: 1909–1919, 2011. © 2011 Wiley‐Liss, Inc.
Widespread white matter changes in Kennedy disease: a voxel based morphometry study

Objective: X linked spinobulbar muscular atrophy (Kennedy disease (KD)), which is clinically characterised mainly by neuromuscular and endocrine symptoms, has to be considered as a multisystem disorder. Based on clinical evidence of central nervous system involvement, potential KD associated cerebral volume alterations were analysed in vivo. Methods: Whole brain based analysis of optimised voxel based morphometry (VBM) was applied to three dimensional MRI data from 18 genetically confirmed KD patients and compared with age matched controls. Results: Subtle decreases in grey matter volume, mainly localised in frontal areas, were found, but extensive white matter atrophy was observed, particularly in frontal areas, but also involving multiple additional subcortical areas, the cerebellar white matter and the dorsal brainstem from the midbrain to the medulla oblongata. Conclusion: The VBM results demonstrated a morphological correlate of central nervous system involvement in KD, in agreement with aspects of the clinical phenotype (behavioural abnormalities, central–peripheral axonopathy) and with pathohistological findings.
Impact of searching clinical trial registries in systematic reviews of pharmaceutical treatments: methodological systematic review and reanalysis of meta-analyses

Objective To evaluate the impact of searching clinical trial registries in systematic reviews. Design Methodological systematic review and reanalyses of meta-analyses. Data sources Medline was searched to identify systematic reviews of randomised controlled trials (RCTs) assessing pharmaceutical treatments published between June 2014 and January 2015. For all systematic reviews that did not report a trial registry search but reported the information to perform it, the World Health Organization International Trials Registry Platform (WHO ICTRP search portal) was searched for completed or terminated RCTs not originally included in the systematic review. Data extraction For each systematic review, two researchers independently extracted the outcomes analysed, the number of patients included, and the treatment effect estimated. For each RCT identified, two researchers independently determined whether the results were available (ie, posted, published, or available on the sponsor website) and extracted the data. When additional data were retrieved, we reanalysed meta-analyses and calculated the weight of the additional RCTs and the change in summary statistics by comparison with the original meta-analysis. Results Among 223 selected systematic reviews, 116 (52%) did not report a search of trial registries; 21 of these did not report the information to perform the search (key words, search date). A search was performed for 95 systematic reviews; for 54 (57%), no additional RCTs were found and for 41 (43%) 122 additional RCTs were identified. The search allowed for increasing the number of patients by more than 10% in 19 systematic reviews, 20% in 10, 30% in seven, and 50% in four. Moreover, 63 RCTs had results available; the results for 45 could be included in a meta-analysis. 14 systematic reviews including 45 RCTs were reanalysed. The weight of the additional RCTs in the recalculated meta-analyses ranged from 0% to 58% and was greater than 10% in five of 14 systematic reviews, 20% in three, and 50% in one. The change in summary statistics ranged from 0% to 29% and was greater than 10% for five of 14 systematic reviews and greater than 20% for two. However, none of the changes to summary effect estimates led to a qualitative change in the interpretation of the results once the new trials were added. Conclusions Trial registries are an important source for identifying additional RCTs. The additional number of RCTs and patients included if a search were performed varied across systematic reviews.
Comparison of a PID controller versus a LQG controller for an autonomous underwater vehicle

Currently autonomous underwater vehicles (AUVs) are facing an increase in their applications in the offshore industry, allowing maximum utilization of the maritime resources. Therefore, the development of autonomous control systems is imperious, for fast decision making in unknown situations or environments. In order to achieve this, is necessary to solve the control and navigation problem efficiently. In this article two control techniques, previously used in AUVs, are compared, in order to apply one of them in the submarine ICTIOBOT, a development platform designed by the research group INTELYMEC of the Faculty of Engineering of the UNICEN. Firstly two controllers are designed, a PID with a Kalman filter for state estimation, and a LQG controller. An evaluation of the performance is done in simulation, with regards to different operation conditions. The results show that the LQG strategy has a better performance that the PID although the latter is computationally more tractable.
Simulation of biofilm formation at different assimilable organic carbon concentrations under lower flow velocity condition

A simulation model was established in this study to evaluate the impacts of assimilable organic carbon concentration on the growth of biofilm and bulk bacteria under lower flow velocity conditions. The experimental results showed that the growth trends of heterotrophic plate count bacteria of biofilm and bulk bacteria were coincident with the pattern of logistic growth model. The effects of the assimilable organic carbon level on the (specific) growth rates of biofilm and bulk bacteria were quite significant, and the higher the assimilable organic carbon level was, the higher the (specific) growth rate was. There was a growth and decline relationship between the maximum quantities of biofilm and bulk water bacteria at steady state. The maximum growth rate of biofilm bacteria exponentially increased with the increase of assimilable organic carbon level. The length of time that the maximum growth rate occurred was inversely decreased with the increase of assimilable organic carbon level. Some results of this study support the inference that the increase of bulk bacteria results mainly from the release or detachment of biofilm bacteria, not from the growth itself. (© 2005 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Domestic Servants and Households in Rochdale 1851-1871

© 1986 Edward Higgs. All rights reserved. First published in 1986. At any one time in late nineteenth-century England and Wales over one million men and women were described as domestic servants in the occupational category after agricultural work. This title explores several aspects of domestic service in the area of Rochdale, and the servant population is examined to discover who entered the service, at what age, and from what background they came. This title will be of interest to students of history.
El cuadro de mando integral como herramienta de gestión estratégica de PYMES portuguesas

Si bien el Cuadro de Mando Integral (CMI) es una valiosa herramienta de gestion ampliamente difundida, lo cierto es que, con caracter general, los ejemplos de exito en su implementacion estan asociados a las empresas de gran dimension. En el entorno actual y en un pais como Portugal, en el que el tejido empresarial esta integrado mayoritariamente por Pequenas y Medianas Empresas (PYMES), la importancia economica y social de estas empresas es innegable. Asi, el presente articulo tiene como objetivo proporcionar algunas ideas acerca de que factores influyen en la aplicacion del CMI en las PYMES, que ventajas o inconvenientes proporciona su empleo, que perspectivas son las mas adecuadas, que caracterizan a las empresas que lo adoptan, cual el grado conocimiento y utilizacion en PYMES portuguesas, asi como que causas de abandono o no implantacion se identifican. Para averiguar si dichas organizaciones conocen y estan a adoptar el CMI, hemos enviado un cuestionario a 161 PYMES portuguesas, con una tasa de respuesta del 29,8%. Los resultados obtenidos permiten concluir que aunque la mayoria de los encuestados conoce el CMI, su utilizacion en dichas organizaciones es muy reducida.
Patch Review Processes in Open Source Software Development Communities: A Comparative Case Study

In spite of the overwhelming success of free/open source software (F/OSS) like Apache and GNU/Linux, there is a limited understanding of the processes and methodologies that specify this form of software development. In this paper, we examine the process of patch reviews as a proxy for the extent of code-review in F/OSS projects. While existing descriptions of patch review processes are mostly narrative and based on individual experiences, we systematically analyze the email archives of five F/OSS projects to characterize this process. While doing so, we make a distinction between contributions (patches or review comments) by core members and casual contributors to grasp the role of core members in this process. Our results show that while the patch review processes are not exactly identical across various F/OSS projects, the core members across all projects play the vital role of gate-keepers to ensure a high level of review for submitted patches
Vehicular traffic intersecting body-to-body communications channels at 2.45 GHz

In this paper we investigate the effects of vehicular traffic on body-to-body (B2B) communications channels in an urban environment at 2.45 GHz. In particular, the impact of differing vehicle types passing in the vicinity of a B2B link are investigated for different body orientations relative to one another at the side of a busy urban street. Initial findings suggest that the average disturbance in a B2B channel can last for 2 seconds and depending on the vehicle size, fades in excess of 40 dB can occur. The body orientations are shown to be a significant factor on the effects of vehicular traffic on the B2B channel.
Emergent Retrograde Tracheal Intubation with a Gum-Elastic Bougie in a Trauma Patient

BACKGROUND:Patients with severe maxillofacial trauma pose a challenge when their airways must be secured. Often, emergent surgical airways are established when largyngoscopy or fiberoptic intubation are unsuccessful. When an airway cannot be surgically established, the anesthesiologist is forced to use novel approaches to airway management, but there are few descriptions of such techniques in the literature. METHODS:After unsuccessful laryngoscopy and a failed cricothyroidotomy and tracheostomy in a patient with deforming maxillofacial trauma, a gum-elastic bougie was inserted retrograde through a tracheal defect in a cephalad manner and exited the patient's mouth. RESULTS:The patient was successfully intubated using a modified retrograde technique through a tracheal defect with a gum-elastic bougie. CONCLUSIONS:When an uncontrolled airway cannot be secured surgically and a tracheal defect is present, retrograde intubation with a gum-elastic bougie may be considered as an emergent management option.
Design and simulation of a micro gyroscope with decoupled and high linearity structure

A novel micro gyroscope with decoupled and high linearity structure is proposed and simulated. The gyroscope is actuated by electrostatic force and detected by the lateral comb capacitors. The lateral comb capacitors have high linearity, improving the linearity of the gyroscope. The gyroscope achieves complete decoupling between drive and sense modes to minimize the mechanical crosstalk, thanks to the intermediate mass and decoupling beams. Drive and sense amplitudes, mechanical and electrical sensitivities and the quality factor are extracted analytically and results are confirmed using finite element analysis. The FEA using ANSYS shows drive and sense frequency of 4793Hz and 5150Hz respectively for only 3% mismatch in resonance frequency. The output signal achieves 20nm amplitude for 200 °/s input rotation rate at atmospheric environment, which results in 2.95aF linear change in the lateral comb capacitance.