Miracle-dz/UniFAR-FTUs huggingface dataset:
Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit

Background: While homozygous mutations in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor. Methods: To evaluate this hypothesis, 4 homozygous PINK1 patients with PD and 10 asymptomatic carriers of a single heterozygous mutation from a large German family (family W) were included in this study. Clinical follow-up of the heterozygous mutation carriers 3 years after the initial visit included a detailed videotaped neurologic examination using the Unified Parkinson's Disease Rating Scale III protocol and smell and color discrimination testing. At follow-up, PET with 18-fluorodopa (FDOPA) of 13 family members was obtained in order to evaluate the clinical phenotype in light of nigostriatal dopaminergic functioning. The clinical and PET data were compared to those of healthy controls. Results: While there was mild worsening of clinical signs in previously affected heterozygous mutation carriers upon follow-up, 3 additional individuals had newly developed signs of possible PD. Hyposmia was found in 7 of the heterozygous mutation carriers, diminished color discrimination in 4. The homozygous mutation carriers who were all definitely affected with PD showed a severe, 60% decrease of caudate and putaminal FDOPA uptake; heterozygous offspring also had a significant 20% putaminal FDOPA uptake reduction compared to controls. Conclusions: Our findings strengthen the hypothesis that heterozygous PINK1 mutations act as a susceptibility factor to develop at least subtle Parkinson disease motor and nonmotor signs, as supported by the finding of a reduced striatal dopaminergic FDOPA uptake not only in homozygous but also, albeit to a lesser extent, in heterozygous mutation carriers.
Characterization of Regenerative Phenotype of Unrestricted Somatic Stem Cells (USSC) from Human Umbilical Cord Blood (hUCB) by Functional Secretome Analysis*

Stem cell transplantation is a promising therapeutic strategy to enhance axonal regeneration after spinal cord injury. Unrestricted somatic stem cells (USSC) isolated from human umbilical cord blood is an attractive stem cell population available at GMP grade without any ethical concerns. It has been shown that USSC transplantation into acute injured rat spinal cords leads to axonal regrowth and significant locomotor recovery, yet lacking cell replacement. Instead, USSC secrete trophic factors enhancing neurite growth of primary cortical neurons in vitro. Here, we applied a functional secretome approach characterizing proteins secreted by USSC for the first time and validated candidate neurite growth promoting factors using primary cortical neurons in vitro. By mass spectrometric analysis and exhaustive bioinformatic interrogation we identified 1156 proteins representing the secretome of USSC. Using Gene Ontology we revealed that USSC secretome contains proteins involved in a number of relevant biological processes of nerve regeneration such as cell adhesion, cell motion, blood vessel formation, cytoskeleton organization and extracellular matrix organization. We found for instance that 31 well-known neurite growth promoting factors like, e.g. neuronal growth regulator 1, NDNF, SPARC, and PEDF span the whole abundance range of USSC secretome. By the means of primary cortical neurons in vitro assays we verified SPARC and PEDF as significantly involved in USSC mediated neurite growth and therewith underline their role in improved locomotor recovery after transplantation. From our data we are convinced that USSC are a valuable tool in regenerative medicine as USSC's secretome contains a comprehensive network of trophic factors supporting nerve regeneration not only by a single process but also maintained its regenerative phenotype by a multitude of relevant biological processes.
Robust Threshold DSS Signatures

We present threshold DSS (Digital Signature Standard) signatures where the power to sign is shared by n players such that for a given parameter t < n/2 any subset of 2t + 1 signers can collaborate to produce a valid DSS signature on any given message, but no subset of t corrupted players can forge a signature (in particular, cannot learn the signature key). In addition, we present a robust threshold DSS scheme that can also tolerate n/3 players who refuse to participate in the signature protocol. We can also endure n/4 maliciously faulty players that generate incorrect partial signatures at the time of signature computation. This results in a highly secure and resilient DSS signature system applicable to the protection of the secret signature key, the prevention of forgery, and increased system availability. Our results significantly improve over a recent result by Langford from CRYPTO'95 that presents threshold DSS signatures which can stand much smaller subsets of corrupted players, namely, t ≅ √n, and do not enjoy the robustness property. As in thc case of Langford's result, our schemes require no trusted party. Our techniques apply to other threshold ElGamal-like signatures as well. We prove the security of our schemes solely based on the hardness of forging a regular DSS signature.
Pulmonary rehabilitation: An overview

The burden of chronic obstructive pulmonary disease (COPD) has increased recently in developing countries. On the other hand, structured or non-structured rehabilitation services for COPD patients are not routinely available in these countries. We, therefore, planned this review to re-emphasize the emerging benefits of pulmonary rehabilitation in COPD population. Aim of this review is to stimulate pulmonary physicians in India and other resource-poor areas of the world so that they start using pulmonary rehabilitation or its components more often. The search included standard english literature PubMed citation of relevant original articles, review articles and practice guidelines. The articles and reviews were searched including standard MeSH terms – Rehabilitation (TIAB) and pulmonary disease, chronic obstructive/therapy (MAJOR) and guidelines (TIAB). Available 58 articles in English including 23 reviews from July 2001 to October 2010 were screened for evidence-based benefits regarding respiratory rehabilitation as a whole or its different components. The cross references and current citations relating to primary articles were also included for description. No attempt was done to make a systematic analysis because our purpose was not to derive evidence-based recommendations from database and because sufficient evidence is already available for benefits of selected components of pulmonary rehabilitation in COPD patients. Pulmonary rehabilitation has emerged as an important modality as an adjunct to other therapies in patients of COPD. Limited and more cost-effective protocols are to be developed and executed by healthcare providers, especially in developing countries like India.
Instability and Drift Phenomena in Switching RF-MEMS Microsystems

MEMS switches include mobile beams in their mechanical structure and these suspended parts are essential for the device functioning. This paper illustrates the most important instability phenomena related to MEMS switches. Starting from the most important instability exploited in these devices—the electrical actuation—the paper also analyzes other important effects related to instability phenomena, which are very common in this type of technology. Instabilities due to dielectric charge trapping, fabrication tolerances, mechanical deformation, contact wear, and temperature variation are duly analyzed, giving a comprehensive view of the complexity encountered in the reliable functioning of these apparently simple devices.
Data mining solves tough semiconductor manufacturing problems

Quickly solving product yield and quality problems in a complex manufacturing process is becoming increasingly more difficult. The “low hanging fruit” has been plucked using process control, statistical analysis, and design of experiments which have established a solid base for a well tuned manufacturing process. However, the dynamic “higher-tier” problems coupled with quicker time to market expectations is making finding and resolving problems quickly an overwhelming task. These dynamic “higher tier” problems include: multi-factor & nonlinear interactions; intermittent problems; dynamically changing processes; installing new processes; multiple products; and, of course, the increasing volumes of data. Data mining technology can increase product yield and quality to the next higher level by quickly finding and solving these tougher problems. Case studies of semiconductor wafer manufacturing problems are presented. A combination of self-organizing neural networks and rule induction is used to identify the critical poor yield factors from normally collected wafer manufacturing data. Subsequent controlled experiments and process changes confirmed the solutions. Wafer yield problems were solved 10x faster than standard approaches; yield increases ranged from 3% to 15%; endangered customer product deliveries were saved. This approach is flexible and can be appropriate for a number of complex manufacturing processes
SideBar: Videoconferencing system supporting social engagement

Companies are increasingly organizing work in globally distributed teams. A core challenge to these distributed teams is, however, to maintain social relationships due to limited opportunities and tools for social engagement. In this paper we present SIDEBAR: a videoconferencing system that enhances virtual meetings by enabling social engagement. Through image analysis of the conference video feed, SIDEBAR tracks meeting participants in real-time. A personal tablet then allows each participant to identify and track other participants, to look up information about them and their local work context, and to engage in peer-to-peer chat conversations. We describe the motivation, design and implementation of SIDEBAR and report results from a preliminary evaluation, which shows that participants found SIDEBAR useful and easy to use. The paper concludes by providing three design guidelines for collaborative technologies supporting social engagement.
Parathyroid hormone regulation of the human bone sialoprotein gene transcription is mediated through two cAMP response elements

Parathyroid hormone (PTH) regulates serum calcium and inorganic phosphate levels through its actions on kidney and bone. Bone sialoprotein (BSP) is an early marker of osteoblast differentiation and bone metabolism. We here report that two cAMP response elements (CRE) in the human BSP gene promoter are target of PTH. In human osteoblast‐like Saos2 cells, PTH (human 1−34 PTH, 10 nM) increased BSP mRNA and protein levels at 3 h. From transient transfection assays, 2‐ to 2.5‐fold increase in transcription by PTH was observed at 3 and 6 h in −184, −211, −428, −868, and −927 luciferase constructs that included the human BSP gene promoter. Effect of PTH was abrogated by 2 bp mutations in either the CRE1 (−79 to −72) or CRE2 (−674 to −667). Luciferase activities induced by PTH were blocked by protein kinase A inhibitor H89 and tyrosine kinase inhibitor herbimycin A. Gel shift analyses showed that PTH increased binding of nuclear proteins to the CRE1 and CRE2 elements. The CRE1–protein and CRE2–protein complexes were disrupted by CRE binding protein 1 (CREB1) antibodies and supershifted by phospho‐CREB1 antibody. ChIP assays detected binding of CREB1 and phospho‐CREB1 to a chromatin fragment containing CRE1 and CRE2, and increased binding of phospho‐CREB1 to the both sites. These studies demonstrate that PTH stimulates human BSP gene transcription by targeting the two CREs in the promoter of the human BSP gene. J. Cell. Biochem. 106: 618–625, 2009. © 2009 Wiley‐Liss, Inc.
Correlation of Macular Choroidal Thickness with Concentrations of Aqueous Vascular Endothelial Growth Factor in High Myopia

Abstract Purpose: To investigate the association of both aqueous and serum vascular endothelial growth factor (VEGF) levels and macular choroidal thickness in high myopia. Materials and methods: VEGF concentrations were measured in aqueous and serum samples via enzyme-linked immunosorbent assay (ELISA) and compared between high myopia (n = 36 eyes, 36 patients) and normal control (n = 42 eyes, 42 patients) eyes. Macular choroidal thickness, the distance from the retinal pigment epithelium (RPE) to the scleral interface, was determined via enhanced depth-imaging optical coherence tomography (EDI-OCT). Axial length was measured using the intraocular (IOL) lens Master. Results: Aqueous levels of VEGF from high myopia patients were significantly lower compared with those from control persons (61.4 ± 27.6 versus 122.6 ± 52.4 pg/ml; p < 0.001), respectively. Macular choroidal thickness of high myopia patients was significantly lower compared with that of control persons (111.1 ± 45.0 versus 230.6 ± 81.8 μm; p < 0.001), respectively. Aqueous levels of VEGF were significantly associated with both macular choroidal thickness (R2 = 0.641; p < 0.001) and axial length (R2 = 0.679; p < 0.001) in high myopia patients. In addition, there was a significantly negative correlation between macular choroidal thickness and axial length (R2 = 0.69; p < 0.001). However, no correlation between serum VEGF and either macular choroidal thickness or axial length was detected in high myopia patients (R2 = 0.009; p = 0.59; R2 = 0.00002; p = 0.981). Conclusions: Macular choroidal thickness was significantly correlated with aqueous, but not serum, levels of VEGF in highly myopic eyes. Macular choroidal thickness may be of predictive value for identifying aqueous VEGF levels in high myopia patients and may, thus, be a useful prognostic modality.
3D Challenges and a Non-In-Depth Overview of Recent Progress

Although a lot of effort already went into the development of 3D acquisition technology, and existing methods come of age, several challenges remain. We try to give a - probably incomplete - overview of these. Then, some of our recent work at ETH Zurich and the University of Leuven is discussed, where we try to tackle such outstanding issues.
Comparison Between Multilayer Feedforward Neural Networks and Radial Basis Function Network to Detect and Locate Leaks in a Pipeline Transporting Gas

Comparison Between Multilayer Feedforward Neural Networks and a Radial Basis Function Network to Detect and Locate Leaks in Pipelines Transporting Gas Rejane B. Santos a *, Markus Rupp, Santiago J. Bonzi , Ana Maria F. Fileti School of Chemical Engineering, Department of Chemical Systems Engineering, Univerty of Campinas (UNICAMP), 13083-970, Campinas/SP, Brazil. School VMechanical Engineering and Transport Systems, Technical University of Berlin, Straße des 17. Juni 135, 10623 Berlin, Germany. School of Chemical Engineering, University of Litoral, Boulevard Pelegrini 2750, (3000) Santa FE, Argentina. rejanebs@yahoo.com. br
Regulation of Glucose Metabolism in Pseudomonas

In Pseudomonas putida, genes for the glucose phosphorylative pathway and the Entner-Doudoroff pathway are organized in two operons; one made up of the zwf, pgl, and eda genes and another consisting of the edd, glk, gltR2, and gltS genes. Divergently with respect to the edd gene is the gap-1 gene. Expression from Pzwf, Pedd, and Pgap is modulated by HexR in response to the availability of glucose in the medium. To study the regulatory process in greater detail we purified HexR and showed that it is a monomer in solution. Electrophoretic mobility shift assays and isothermal titration calorimetry assays were done showing that HexR recognizes the Pedd, Pzwf, and Pgap-1 promoters with affinity in the nanomolar range. DNA footprinting assays identified the binding site between +30 and +1 at Pzwf, between +16 and +41 at Pedd, and between −6 and +18 at Pgap-1. Based on DNA sequence alignment of the target sites and isothermal titration calorimetry data, two monomers of HexR bind to a pseudopalindrome with a consensus sequence of 5′-TTGTN7–8ACAA-3′. Binding of the Entner-Doudoroff pathway intermediate 2-keto-3-deoxy-6-phosphogluconate to HexR released the repressor from its target operators, whereas other chemicals such as glucose, glucose 6-phosphate, and 6-phosphogluconate did not induce complex dissociation. The phosphorylated effector is likely to be recognized by a sugar isomerase domain located at the C-terminal end of HexR, whereas the helix-turn-helix DNA binding domain of HexR exhibits high similarity to proteins of the RpiR family of regulators.
Cat-Map: putting cataract on the map

Lens opacities, or cataract(s), may be inherited as a classic Mendelian disorder usually with early-onset or, more commonly, acquired with age as a multi-factorial or complex trait. Many genetic forms of cataract have been described in mice and other animal models. Considerable progress has been made in mapping and identifying the genes and mutations responsible for inherited forms of cataract, and genetic determinants of age-related cataract are beginning to be discovered. To provide a convenient and accurate summary of current information focused on the increasing genetic complexity of Mendelian and age-related cataract we have created an online chromosome map and reference database for cataract in humans and mice (Cat-Map).
Diverse functions of protein kinase C isoforms in platelet activation and thrombus formation

Summary. Platelet activation is a complex balance of positive and negative signaling pathways. The protein kinase C (PKC) family is a major regulator of platelet granule secretion, integrin activation, aggregation, spreading and procoagulant activity. As broad‐spectrum PKC inhibitors reduce secretion and aggregation, the PKC family is generally considered to be a positive regulator of platelet activation. However, the individual members of the PKC family that are expressed in platelets are regulated in different ways, and an increasing body of evidence indicates that they have distinct, and often opposing, roles. Many of the recent advances in understanding the contributions of individual PKC isoforms have come from mouse gene knockout studies. PKCα, a classic isoform, is an essential positive regulator of granule secretion and thrombus formation, both in vitro and in vivo. Mice lacking PKCα show much reduced thrombus formation in vivo but do not have a bleeding defect, suggesting that PKCα could be an attractive antithrombotic target. Important, apparently non‐redundant, roles, both positive and negative, for the novel PKC isoforms δ, θ and ε in granule secretion have also been proposed, indicating highly complex regulation of this essential process. Similarly, PKCβ, PKCδ and PKCθ have non‐redundant roles in platelet spreading, as absence of either PKCβ or PKCθ reduces spreading, whereas PKCδ negatively regulates filopodial formation. This negative signaling by PKCδ may reduce platelet aggregation and so restrict thrombus formation. In this review, we discuss the current understanding of the regulation and functions of individual PKC isoforms in platelet activation and thrombus formation.
Acquiring Human-like Feature-Based Conceptual Representations from Corpora

The automatic acquisition of feature-based conceptual representations from text corpora can be challenging, given the unconstrained nature of human-generated features. We examine large-scale extraction of concept-relation-feature triples and the utility of syntactic, semantic, and encyclopedic information in guiding this complex task. Methods traditionally employed do not investigate the full range of triples occurring in human-generated norms (e.g. flute produce sound), rather targeting concept-feature pairs (e.g. flute - sound) or triples involving specific relations (e.g. is-a, part-of). We introduce a novel method that extracts candidate triples (e.g. deer have antlers, flute produce sound) from parsed data and re-ranks them using semantic information. We apply this technique to Wikipedia and the British National Corpus and assess its accuracy in a variety of ways. Our work demonstrates the utility of external knowledge in guiding feature extraction, and suggests a number of avenues for future work.
Analysis of jitter peaking and jitter accumulation in re-circulating delay-locked loops

The paper presents analysis results on jitter transfer in delay-locked loops (DLLs). Using a z-domain model for re-circulating DLLs, two main jitter factors, jitter peaking and jitter accumulation, are calculated and it is shown that these two factors always exist and trade off with each other. Using a first or second order of low-pass filter as the loop filter reduces the high frequency jitter amplification. Meanwhile, low frequency jitter amplification could be decreased using a suitable band-pass filter after the delay line. The amount of jitter peaking is shown to be proportional to the tracking bandwidth and, therefore, the lock time, but the jitter accumulation factor is inversely proportional to the bandwidth of the DLL.
Contemporary concepts of the pathogenesis and management of preeclampsia.

The main-stay of therapy for preeclampsia re-mainsclinicalrecognitionthroughpre-natalcareandterminationofthediseaseprocess with delivery. Maternal mor-tality has been reduced in the UnitedStates, but in countries where prena-tal care is not adequate, preeclampsia/eclampsia accounts for 40% to 80% ofmaternal deaths, an estimated 50000per year. Many of these deaths may bepreventablewithprenatalcareandevi-dence-based prophylactic seizuretherapy.Infants of women with preeclamp-sia have a 5-fold increase in mortalitycomparedwithinfantsofmotherswith-out the disorder. Much of the neona-tal mortality is attributable to iatro-genicprematurity.Approximately10%ofpreeclampsiaoccursbefore34weeks’gestational age, and indicated deliveryforpreeclampsiaisresponsiblefor15%of preterm US births.
Clinical Spectrum and Prognostic Factors of Acute Necrotizing Encephalopathy in Children

This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in all patients, mitochondrial DNA studies for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and myoclonus epilepsy and ragged red fibers (MERRF) in four patients, and genomic typing on HLA DRB/HLA DQB genes in three patients were performed. All had precedent illnesses and the main initial symptoms included mental change (83%), seizures (50%), and focal deficits (50%). MRI revealed increased T2 signal density in the bilateral thalami and/or the brainstem in all patients. Mitochodrial DNA studies for MELAS and MERRF were negative in those children and HLA-DRB1*1401, HLA-DRB3*0202, and HLA-DQB1*0502 seemed to be significant. A high dose steroid was given to all patients, which seemed to be partly effective except for 2 patients. In conclusion, ANE is relatively rare, but can result in serious neurological complication in children. Early detection and appropriate treatment may lead to a better neurological outcome.