Miracle-dz/UniFAR-FTUs huggingface dataset:
Pediatric Patient with Oculocutaneous Albinism : A Case Report

Case Report Initial Visit A two-month-old female was taken to the emergency department when her parents noted an onset of what they described as intermittent shaky movements of the eyes. The doctor in the emergency department noted intermittent horizontal nystagmus of high frequency that was more prominent in lateral gaze. The patient was referred to the ophthalmology department for a complete eye exam. The following week, the patient presented to our office for a complete eye exam. The patient’s mother accompanied her to the exam. The mother reported the onset of the nystagmus within the past week and believed that it occurred more frequently when the patient was trying to focus on something in particular. A complete medical history was taken. The child was full term with no complications during birth. She was taking Zantac (ranitidine) for reflux but was otherwise healthy with no known drug allergies. Family ocular history was unremarkable. Upon examination, it was noted that the patient fixed and followed bright, lighted toys binocularly. She was grossly aligned with no strabismus noted during the Hirschberg test. The pupils were equal in size, round, and reactive to light. No afferent pupillary defect was noted. A large-amplitude, low-frequency, horizontal jerk nystagmus was observed. The patient’s overall pigmentation, both skin and hair, was very fair. The patient was then dilated with one drop of Cyclomydril OU. Anterior segment evaluation showed light blue irides but was otherwise normal. A mild hyperopic refractive error of +1.75 sphere OU was found with cycloplegic retinoscopy. Posterior segment evaluation revealed foveal hypoplasia in both eyes and a pale fundus bilaterally that was transparent enough to allow visualization of the underlying choroidal vasculature. The remaining posterior ocular structures were unremarkable. Due to the clinical findings of hypopigmentation and foveal hypoplasia, a diagnosis of ocular albinism with secondary nystagmus was given. The discussion of findings with the mother included the strong possibility of oculocutaneous albinism (OCA) and a high probability of decreased vision for the entirety of the patient’s life. Best corrected verbal visual acuity (VA) was unable to be obtained due to age. A more specific VA measurement will be obtained when the child is old enough to complete verbal acuity tests. Tests for recognition VA include but are not limited to Lea Symbols, HOTV, and Allen symbols. A visually evoked potential (VEP) or forced preferential looking could have been performed to obtain resolution VA but was not deemed necessary at that point in time as they would not alter the course of treatment. Close monitoring of the patient and reevaluation of visual behavior was deemed to be necessary, and a six-month follow-up was scheduled. ABSTRACT
Defining a common region of deletion at 13q21 in human cancers

Previous molecular genetic analyses identified a region of deletion at 13q21 in a variety of human cancers, suggesting the existence of a tumor suppressor gene(s) at this locus. In our earlier study on prostate cancer, the region of deletion was confined to a 3.1 cM interval between D13S152 and D13S162. At present, however, no known gene located in this interval has been firmly implicated in cancer, and the region remains too large for gene identification. To fine‐map the area of interest, we established a contig of bacterial artificial chromosome (BAC) clones, narrowed the region of deletion by loss of heterozygosity (LOH) and homozygosity‐mapping‐of‐deletion (HOMOD) analyses in different types of cancers, and tested a candidate gene from the region for mutation and alteration of expression in prostate cancers. The contig consisted of 75 overlapping BAC clones. In addition to the generation of 47 new sequence‐tagged‐site (STS) markers from the ends of BAC inserts, 76 known STS and expressed sequence tag markers were mapped to the contig (25 kb per marker on average). The minimal region of deletion was further defined to be about 700 kb between markers D13S791 and D13S166 by LOH analysis of 42 cases of prostate cancer, and by HOMOD analysis of eight prostate cancer cell lines/xenografts and 49 cell lines from cancers of the breast, ovary, endometrium, and cervix, using 18 microsatellite markers encompassing the deletion region. A gene that is homologous to the WT1 tumor suppressor gene, AP‐2rep (KLF12), was mapped in this region and was analyzed for its expression and genetic mutation. In addition to low levels of expression in both normal and neoplastic cells of the prostate, this gene did not have any mutations in a group of aggressive prostate cancers and cell lines/xenografts, as assessed by the methods of polymerase chain reaction‐single strand conformational polymorphism analysis and direct sequencing. These studies suggest that a 700 kb interval at 13q21 harbors a tumor suppressor gene(s) that seems to be involved in multiple types of cancer, and that the AP‐2rep gene is unlikely to be an important tumor suppressor gene in prostate cancer. The BAC contig and high‐resolution physical map of the defined region of deletion should facilitate the cloning of a tumor suppressor gene(s) at 13q21. © 2001 Wiley‐Liss, Inc.
Ionic liquid‐based observation technique for nonconductive materials in the scanning electron microscope: Application to the characterization of a rare earth ore

A new approach for preparing geological materials is proposed to reduce charging during their characterization in a scanning electron microscope. This technique was applied to a sample of the Nechalacho rare earth deposit, which contains a significant amount of the minerals fergusonite and zircon. Instead of covering the specimen surface with a conductive coating, the sample was immersed in a dilute solution of ionic liquid and then air dried prior to SEM analysis. Imaging at a wide range of accelerating voltages was then possible without evidence of charging when using the in‐chamber secondary and backscattered electrons detectors, even at 1 kV. High resolution x‐ray and electron backscatter diffraction mapping were successfully obtained at 20 and 5 kV with negligible image drifting and permitted the characterization of the microstructure of the zircon/fergusonite‐Y aggregates encased in the matrix minerals. Because of the absence of a conductive layer at the surface of the specimen, the Kikuchi band contrast was improved and the backscatter electron signal increased at both 5 and 20 kV as confirmed by Monte Carlo modeling. These major developments led to an improvement of the spatial resolution and efficiency of the above characterization techniques applied to the rare earth ore and it is expected that they can be applied to other types of ores and minerals. Microsc. Res. Tech. 77:225–235, 2014. © 2014 Wiley Periodicals, Inc.
Multiple Services from Alpine Forests and Policies for Local Development

The starting point of the analysis here presented is the concept of ecosystem services, which could help us appreciate natural systems as vital assets, recognizing the central roles that they play in supporting human well-being, either at the local or global level. In fact, ecosystem services provide benefits, in terms of goods and services, both to people living in the mountains and to people living outside them. At the moment, these services are seriously threatened, and “their global degradation is increasingly jeopardizing development goals”(OECD, 2008). As a consequence, it is necessary to reverse this trend while, at the same time, meeting the increasing demands of and interests in such services.1 The focus of our study are the alpine forest ecosystems, which represent a fundamental resource for people living in mountain areas and for human society, in general.2 In fact, it is commonly known that forests nowadays fulfil several other functions, in addition to what has been perceived as their main function (the productive one). These functions include the protective function, the landscape and recreational function and the ecological function. This functionality means that forests not only produce goods but also various social and environmental services,3 contributing, in many different ways, to the welfare of humans. This capacity is well summarized in the concept of “multi-functionality”. It is clear that ‘‘better understanding of the full range of goods and services supplied by forests is essential for optimal utilization of forests, and it may provide an economic rationale for sustainable forestry’’ (Lange, 2004).
The Technology Demonstration Module On-Board PROBA-II

As a semiconductor component radiation effects and technology demonstration experiment, the Technology Demonstration Module (TDM) integrated into the PROBA-II satellite, was launched on November 2nd 2009, into a 800 km polar orbit. This SEU/SEL experiment, in strong support to the Reference SEU Monitor database , will be described and details given about ground testing and calibrations. Since ground testing was carried out on flight lot devices and under flight operational conditions, the in-orbit SEU/SEL database will eventually become a vital reference point for improved modeling, prediction and testing. Evidence to confirm this promise is starting to emerge and will be presented at the end of the paper. As the present in-orbit number of events is still small, only the first month of flight performance will be presented with strong emphasis on validating correct operation of monitored devices.
Document clustering with explicit semantic analysis (ESA)

Document clustering recently became a very vital approach as numbers of documents on web and on proprietary repositories are increased in unprecedented manner. The documents that are written in human language generally contain some context and usage of words mainly depends upon the same context, recently researchers have tried to enrich document representation via some external knowledge base. This can facilitate the contextual information in the clustering process. We proposed an enrichment process with explicit content analysis using Wikipedia as knowledge base. Our approach is distinct in the sense we only uses the conceptual words from a document and their frequency to embed the contextual information. Hence, our approach does not over enrich the documents. A vector based representation, with cosine similarity and agglomerative hierarchical clustering is used to perform actual document clustering. We compare our proposed method with existing relevant approaches on NEWS20 dataset, with evaluation measure for clustering like: F-Score, Entropy and Purity.
Probabilistic risk assessment using major features of rural road curves via rear and front car cameras

Rural and secondary roads inherently exhibit road curves and turns. This study aims to predict the risk associated with rural road curves exploiting major curve features such as curvature, slope type, and direction. The images acquired by rear and front cameras are utilized to capture the underlined features. Slope type is obtained by two-view images while direction and curvature are estimated by single-view front camera. Our approach is based on geometrical derivations using visual clues such as vanishing points and curb borders. Consequently, the impact of major features on the risk has been assessed using the Bayesian belief theory and network. The proposed model is expected to be an advanced driver assistant system for long distance drivers, which tackles with prominent risk components associated with road curves. In turn, this type of advanced driver assistance systems would become a critical part of autonomous vehicles.
Cigarette demand: a meta-analysis of elasticities.

Estimating elasticities of cigarette demand has become commonplace amongst economists and policymakers. Synthesizing the various elasticities into a coherent message is quite challenging, however, as the point estimates are obtained using quite disparate modeling techniques and data. In this study, we perform a meta-analysis to explore factors that influence variations within and across studies. Empirical results suggest that demand specification, data issues, and estimation methodology have varying degrees of influence on reported estimates of price, income, and advertising elasticities.
Erythropoietin Protects Podocytes from Damage by Advanced Glycation End-Products

Background: Podocyte damage and accumulation of advanced glycation end-products (AGEs) are implicated in the development and progression of diabetic nephropathy. We have previously shown that changes in podocyte pathophysiology, such as hypertrophy and reduced migration, are closely linked with the induction of the cell cycle inhibitor p27Kip1 and a decrease in neuropilin-1 (NRP1) expression. We investigated whether the erythropoietin receptor activators CERA and epoetin-β may prevent AGE-mediated changes in podocytes. Methods: Differentiated mouse podocytes in culture were challenged by AGE-modified bovine serum albumin (BSA) or control BSA in the presence or absence of CERA as well as epoetin-β. Cell cycle analysis and determination of apoptosis markers were performed. p27Kip1 and NRP1 expression was measured by RT-PCR and Western blots. Results: Differentiated mouse podocytes in culture expressed erythropoietin receptors which were phosphorylated after incubation with CERA or epoetin-β. CERA or epoetin-β prevented the p27Kip1-dependent cell cycle arrest and cellular hypertrophy induced by AGE-BSA incubation. Furthermore, the p27Kip1-dependent AGE-BSA-induced decrease in cell viability and decrease in cell proliferation was ameliorated in the presence of CERA or epoetin-β. Following erythropoietin treatment, AGE-BSA failed to further reduce NRP1 expression, resulting in improved podocyte migration. Conclusion: Treatment with the erythropoietin receptor activators epoetin-β or CERA protected podocytes from AGE-BSA-mediated damage via an effect on p27Kip1 and NRP1 expression. Consequently, early treatment with erythropoietin may help to prevent diabetic nephropathy.
VARIOUS TECHNIQUES F OR THE MODIFICATION OF STARCH AND THE APPLICATIONS OF ITS DERIVATIVES

Starch is a major carbohydrate easily extract able from various native source s , like potato, maize, corn, wheat, etc , which finds wide application in various food and non food industries. Since time immemorable various attempts are being made in order to modify this highly flexible polymer with an aim to enhance the positive attributes and eliminate the short comings of the native starches. Modifications are generally made by physical methods like osmotic - pressur e treatment, deep - freezing and thrashing; chemical methods that primarily include derivatizations such as etherification, esterification and crosslinking, oxidation, cationization and grafting of starch ; enzymatic degradation techniques and genetical modif ications which involves the transgenic techniques targeting the various enzymes involved in starch biogenesis. All these techniques tends to produce a variety of derivatives with altered physicochemical properties and modified structural attributes of high technological value for instance carboxymethylated starch used as a binding and disintegrating agent. This review summarizes the various methods of starch modification that can be employed to produce a novel molecule with substantial applications in vario us
Morphogenetic and chemical stability of long-term maintained Agrobacterium-mediated transgenic Catharanthus roseus plants

Transgenic Catharanthus roseus plants (transgenic Dhawal [DT] and transgenic Nirmal [NT]) obtained from the Agrobacterium tumefaciens and Agrobacteriumrhizognenes-mediated transformations, respectively, have been maintained in vitro for 5 years. Plants were studied at regular intervals for various parameters such as plant height, leaf size, multiplication rate, alkaloid profile and presence of marker genes. DT plant gradually lost the GUS gene expression and it was not detected in the fifth year while NT plant demonstrated the presence of genes rolA, rolB and rolC even in the fifth year, indicating the more stable nature of Ri transgene. Vindoline content in the DT was two times more than in non-transformed control plants. Alkaloid and tryptophan profiles were almost constant during the 5 years. The cluster analysis revealed that the DT plant is more close to the control Nirmal plant followed by NT plant.
Traveling-Wave Metal/Insulator/Metal Diodes for Improved Infrared Bandwidth and Efficiency of Antenna-Coupled Rectifiers

We evaluate a technique to improve the performance of antenna-coupled diode rectifiers working in the IR. Efficient operation of conventional, lumped-element rectifiers is limited to the low terahertz. By using femtosecond-fast MIM diodes in a traveling-wave (TW) configuration, we obtain a distributed rectifier with improved bandwidth. This design gives higher detection efficiency due to a good match between the antenna impedance and the geometry-controlled impedance of the TW structure. We have developed a method for calculating the responsivity of the antenna-coupled TW detector. Three TW devices, made from different materials, are simulated to obtain their impedance and responsivity at 1.5, 3, 5, and 10 μm wavelengths. The characteristic impedance of a 100-nm-wide TW is in the range of 50 Ω and has a small variation with frequency. A peak responsivity of 0.086 A/W is obtained for the Nb-Nb2 O5 -Nb TW diode at 3-μm wavelength. This corresponds to a quantum efficiency of 3.6% and is a significant improvement over the antenna-coupled lumped-element diode rectifiers. For IR imaging, this results in a normalized detectivity of 4 × 106 Jones at 3 μm. We have identified several ways for improving the detectivity of the TW detector. Possible methods include decreasing the diode resistance, reducing the noise, and increasing the effective antenna area.
Visual Search with Embedded Targets: Color and Texture Differences

Two embedded target visual search displays were used in three kinds of experiment. One display had a color and the other a monochrome texture background. In each trial of each experiment a single target was presented. First, 28 observers rated the discriminability of five color and four monochrome targets from the color and monochrome backgrounds, respectively. Second, five observers searched the color and six the monochrome display for the appropriate targets and, after practice, there were 60 trials per observer per target. Third, using the five observers who searched the color display and four of the six who searched the monochrome, the extent into the periphery that they could see the appropriate targets when the displays were exposed for 0.3 seconds was measured. Analysis of the data showed that, for the color displays, simple equations, developed for competition search situations, could be used to relate together the three types of measure. The equations were less successful for the monochrome display.
Lithoautotrophic Microbial Ecosystems in Deep Basalt Aquifers

Bacterial communities were detected in deep crystalline rock aquifers within the Columbia River Basalt Group (CRB). CRB ground waters contained up to 60 μM dissolved H2 and autotrophic microorganisms outnumbered heterotrophs. Stable carbon isotope measurements implied that autotrophic methanogenesis dominated this ecosystem and was coupled to the depletion of dissolved inorganic carbon. In laboratory experiments, H2, a potential energy source for bacteria, was produced by reactions between crushed basalt and anaerobic water. Microcosms containing only crushed basalt and ground water supported microbial growth. These results suggest that the CRB contains a lithoautotrophic microbial ecosystem that is independent of photosynthetic primary production.
High-gain planar tapered slot antenna for Ku-band applications

This paper presents an high-gain antipodal linearly tapered slot antenna(LTSA) using substrate integrated waveguide(SIW) technique for Ku-band applications. The feeding structure is based on SIW structure which provides high Q-factors and allows planar printed circuit board fabrication process. Proposed antenna demonstrates wideband performance for frequency ranges from 13 GHz to over 17 GHz with high gain of 16 dBi and relatively low cross-polarization levels of less than −25 dB.
Experimental transmission of white spot syndrome virus (WSSV) from crabs to shrimp Penaeus monodon.

White spot syndrome virus (WSSV) of the black tiger prawn Penaeus monodon is a recently discovered baculo-like virus disease which is currently the cause of very serious and widespread losses in the shrimp industry in Thailand and elsewhere in Asia. Three suspected crab carriers of this virus commonly found in shrimp-rearing areas were investigated. These were Sesarma sp. , Scylla serrata and Uca pugilator. All these crabs could be infected with WSSV by injection and they sustained heavy viral infections for up to 45 d (confirmed by normal histology, specific in situ DNA hybridization and PCR amplification) without visible signs of disease or mortality. All of them also transferred the disease to P. monodon via water while physically separated in aquarium cohabitation tests. Transfer of the virus to the shrimp was monitored using in situ DNA hybridization and PCR assay at 12 h intervals after cohabitation began. With U. pugilator, WSSV could be detected in the shrimp cohabitants after 24 h using PCR amplification and after 60 h using in situ hybridization. With S. serrata, the shrimp were positive for WSSV after 36 h using PCR and after 60 h using DNA in situ hybridization. With Sesarma sp. they were positive after 48 h using PCR and 72 h using in situ hybridization. These laboratory studies demonstrated that crab carriers of WSSV may pose a real threat to cultivated shrimp. However, the studies were carried out in containers with a small volume and with relatively clean sea water as compared to shrimp cultivation ponds. Pond-based studies are now needed to determine whether factors such as pond volume, pond water quality and shrimp and crab behavior can influence the rate and success of transfer.
Autophagy induction rescues muscular dystrophy

Collagen VI is an extracellular matrix protein forming a microfibrillar network in the endomysium of skeletal muscles. In humans, mutations in any of the three genes coding for collagen VI cause several skeletal muscle diseases, including Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Collagen VI null (Col6a1–/–) mice display a myopathic phenotype resembling that of BM and UCMD patients. Muscles lacking collagen VI are characterized by the presence of dilated sarcoplasmic reticulum and dysfunctional mitochondria, which triggers apoptosis and leads to muscle wasting. We have found that accumulation of abnormal organelles is due to an impairment of autophagy. Reactivation of the autophagic flux by either nutritional approaches or by pharmacological and genetics tools removes dysfunctional organelles and greatly ameliorates the dystrophic phenotype.