Miracle-dz/UniFAR-FTUs huggingface dataset:
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

We report on a girl with a trisomy 1q42-q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, inv dup(1)(q44q42). ish(dup del 1)(q44q42)(D1S446x2, D1S423x2, tel1q-). The phenotype of the patient is characterized by macrocephaly with prominent forehead, downslanting palpebral fissures, micrognathia, and psychomotor retardation. All these clinical features are the same as observed for the typical trisomy 1q42-qter syndrome. The phenotypic effects of the inversion and the terminal deletion of 1q in addition to the trisomy are discussed here.
The Effects of CALL Program on Expanding Lexical Knowledge of EFL Iranian Intermediate Learners.

Foreign language learning is a challenging task, involving mastering a new sound system, phonological and syntactical forms, vocabulary, and sometimes a new writing system. For the adult second language learner, one of the most frustrating aspects is having an inadequate vocabulary for expressing complex ideas that are so easy to relate in one’s native tongue. The acquiring of new vocabulary becomes one of the most important tasks as one strives for fluency in the second language. This research provides brief overview of how computers have been used and are being used for language learning. The present research also explores the effects of CALL 1 on vocabulary learning. It discusses the use of the computer for lexical skill development in relating CALL to vocabulary acquisition via an experimental method and searching for effective ways to use CALL in vocabulary instruction. The results indicate that in using CALL program, learners have an intensive mental processing which results in long term recall of words. CALL also produced better results in contextualized vocabulary learning, plus better pronunciation. However, the results show that in the first experiment the scores on the immediate test were considerably higher for the control group, but the scores on the delayed tests were significantly lower for the control one.
Mind Wandering and Retrieval from Episodic Memory: A Pilot Event-Related Potential Study

The present study investigated the effects of mind wandering (task-unrelated thought) on the subcomponents of episodic memory as reflected by event-related potentials (ERPs). Specifically, individual differences in the pattern of ERP episodic ‘old/new’ effects (left-parietal, right-frontal and central-negativity effects) were examined across groups of participants experiencing either high or low frequencies of task-unrelated thought during encoding. Twenty participants studied lists of words and line drawings in one of two contexts (red versus green coloured boxes). At test, participants discriminated between target (old words or line drawings presented in one colour) and nontargets (old items from the other colour and new items). On completion of the memory task, participants completed the ‘thinking’ component of the Dundee Stress State Questionnaire to provide a retrospective measure of task-unrelated thought. Behavioural data indicated that irrespective of the presence of task-unrelated thought, participants were able to complete the memory task equally well. However, an analysis of ERPs across High and Low task-unrelated thought groups revealed differences in retrieval strategy. Those individuals with infrequent episodes of task-unrelated thought at study used a ‘pure’ recollection strategy (left-parietal effect only). Conversely, those participants experiencing frequent episodes of task-unrelated thought were unable to recollect the stimuli with ease, as indexed by a diminished parietal effect. As a consequence, these participants employed additional strategic processes for task completion, as indexed by an elevated amplitude of central negativity effects. These data are consistent with the decoupling hypothesis of mind wandering which suggests impaired recollection when attention becomes directed away from the task.
Pharmacokinetics and gamma scintigraphy evaluation of two enteric coated formulations of didanosine in healthy volunteers.

AIMS The aims of the study were to evaluate the bioavailability of didanosine from the encapsulated enteric coated beads (1 x 200 mg; enteric beads) and enteric coated mini-tablets (4 x 50 mg; enteric tablet) formulations relative to the chewable/dispersible buffered tablets (2 x 100 mg; buffered tablet), and to study their rate of gastrointestinal transit. METHODS This was a single-dose, randomized, three-way crossover study in 18 healthy male volunteers. A 200 mg dose of didanosine was given in each period and each formulation contained a gamma radiation-emitting isotope. Pharmacokinetic parameters determined were Cmax, tmax, AUC(0, infinity ) and t1/2. Bioequivalence was assessed using the confidence interval (CI) of 0.80, 1.25 for Cmax and AUC(0, infinity ). Scintigraphic images were recorded and gastrointestinal transit profiles were generated. RESULTS The point estimate and 90% CI of the ratio of Cmax for the enteric beads and enteric tablet relative to the buffered tablet was 0.71 (0.59, 0.85) and 0.55 (0.46, 0.66), respectively. The tmax was significantly different for the enteric beads (median, 1.33 h) and the enteric tablet (median, 2.83 h) than for the buffered tablet (median, 0.67 h). The AUC(0, infinity ) satisfied the bioequivalence criteria, and the point estimate and 90% CI of the ratio were 1.02 (0.91, 1.15) and 0.92 (0.82, 1.04) for the enteric beads and enteric tablet, respectively. The AUC(0, infinity ) values appeared to be less variable with the enteric beads (% CV = 19%) than with the enteric tablet (% CV = 33%). The t1/2 values were not significantly different between formulations, and the mean values ranged from 1.82 to 1.92 h. Inspection of the individual scintigraphy profiles and concentration-time curves suggested that didanosine was absorbed throughout the small intestine. Gastrointestinal transit parameters were higher for both enteric formulations than for the buffered tablet, indicating slower transit of the enteric formulations. Between the enteric formulations, gastric emptying was slower for the enteric beads than for the enteric tablet; however, plasma didanosine concentrations were observed sooner for the enteric beads, suggesting that the enteric coat for the beads dissolved more rapidly. CONCLUSIONS The enteric beads and enteric tablet formulations of didanosine were equivalent to the buffered tablet in their extent of absorption. Although the gastric emptying of the enteric tablet was faster, based on the rapid uncoating and the lower variability in AUC, the enteric beads were chosen for further clinical development.
Orientation changes in the cruciate ligaments of the knee during skeletal growth: A porcine model

Musculoskeletal injuries in pediatric patients are on the rise, including significant increases in anterior cruciate ligament (ACL) injuries. Previous studies have found major anatomical changes during skeletal growth in the soft tissues of the knee. Specifically, the ACL and the posterior cruciate ligament (PCL) change in their relative orientation to the tibial plateau throughout growth. In order to develop age‐specific treatments for ACL injuries, the purpose of this study was to characterize orientation changes in the cruciate ligaments of the Yorkshire pig, a common pre‐clinical model, during skeletal growth in order to verify the applicability of this model for pediatric musculoskeletal studies. Hind limbs were isolated from female Yorkshire pigs ranging in age from newborn to late adolescence and were then imaged using high field strength magnetic resonance imaging. Orientation changes were quantified from the magnetic resonance images using image segmentation software. Statistically significant increases were found in the coronal and sagittal angles of the ACL relative to the tibial plateau during pre‐adolescent growth. Additional changes were observed in the PCL angle, Blumensaat angle, intercondylar roof angle, and the aspect ratio of the intercondylar notch. Only the sagittal angle of the ACL relative to the tibial plateau experienced statistically significant changes through late adolescence. The age‐dependent properties of the ACL and PCL in the female pig mirrored results found in female human patients, suggesting that the porcine model may provide a pre‐clinical platform to study the cruciate ligaments during skeletal growth. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:2725–2732, 2017.
Identification of a Receptor Subunit and Putative Ligand-Binding Residues Involved in the Bacillus megaterium QM B1551 Spore Germination Response to Glucose

ABSTRACT The molecular basis for the recognition of glucose as a germinant molecule by spores of Bacillus megaterium QM B1551 has been examined. A chromosome-located locus (BMQ_1820, renamed gerWB) is shown to encode a receptor B-protein subunit that interacts with the GerUA and GerUC proteins to form a receptor that is cognate for both glucose and leucine. GerWB represents the third receptor B protein that binds to glucose in this strain. Site-directed mutagenesis (SDM) experiments conducted on charged proline and aromatic residues predicted to reside in the transmembrane domains of a previously characterized receptor B protein, GerVB, reveal the importance to receptor function of a cluster of residues predicted to reside in the middle of the transmembrane 6 (TM6) domain. Reductions in the region of 70- to 165-fold in the apparent affinity of receptors for glucose in which Glu196, Tyr191, and Phe192 are individually replaced by SDM indicate that some or all of these residues may be directly involved in the binding of glucose and perhaps other germinants to the germinant receptor.
Analysis Of Flouting And Violating Towards Maxim Of Quality In My Sister's Keeper Novel

ABSTRACT The objectives of this research was to find the expression of flouting and violating towards maxim of quality in My Sister’s Keeper novel through major characters’ utterances and also to find the purposes of using flouting and violating toward maxim of quality. This analysis includes to descriptive qualitative method. This researcher used My Sister’s Keeper novel as the source of data. The data derived from the utterances of major characters containing the elements of flouting and violating towards maxim of quality. From the finding of this analysis, the elements of flouting and violating towards maxim of quality were found in major characters’ utterances through five strategies. They are hyperbole strategy, metaphor strategy, irony strategy, banter strategy, and lie strategy. Metaphor strategy was often used by major characters in this novel. It occurred because through metaphor strategy the characters can emphasize the point of talk to express their opinion clearly. From the analysis of five strategies, it found that there are seven purposes of using flouting and violating towards maxim of quality. Key words: Flouting the maxim of quality, violating towards maxim of quality, purpose, My Sister’s Keeper ABSTRAK Tujuan dari penelitian ini adalah menemukan ucapan dari penyimpangan dan pelanggaran terhadap maksim kualitas dalam novel My Sister's Keeper melalui ujaran karakter utama dan juga menemukan tujuan dari penggunaan penyimpangan dan pelanggaran terhadap maksim kualitas. Analisis ini termasuk dalam metode deskriptif kualitatif. Peneliti ini menggunakan novel My Sister's Keeper sebagai sumber data. Data berasal dari ujaran karakter utama yang mengandung unsur-unsur penyimpangan dan pelanggaran terhadap maksim kualitas. Dari analisis ini, unsur-unsur penyimpangan dan pelanggaran terhadap maksim kualitas ditemukan dalam ujaran karakter utama melalui lima strategi. Diantaranya adalah strategi hiperbola, strategi metafora, strategi ironi, strategi banter, dan strategi kebohongan. Strategi metafora sering digunakan oleh tokoh utama dalam novel ini. Itu terjadi karena melalui strategi metafora para tokoh dapat menekankan poin pembicaraan untuk mengekspresikan pendapat mereka dengan jelas. Dari analisis lima strategi tersebut, ditemukan bahwa terdapat tujuh tujuan dalam penggunaan penyimpangan dan pelanggaran terhadap maksim kualitas. Kata kunci: Penyimpangan maksim kualitas, Pelanggaran maksim kualitas, Tujuan, My Sister’s Keeper
Key Factors Affecting Valuation for Senior Apartments

The value of senior apartments is estimated relative to traditional apartments in 34 markets in the United States. In some markets, senior apartments transact at higher prices than predicted; in others, at a discount. Market differences in the valuation of senior apartments are examined. Several attributes are found to have a significant impact and become capitalized into differential values for senior apartments including: the supply of apartments per senior resident, housing prices, market size, education, and life expectancy. Other variables appear to have no effect, including rent and income, suggesting that the price impact is symmetrical for senior and traditional apartments.
Enumeration of Lozenge Tilings of Hexagons with a Central Triangular Hole

We deal with unweighted and weighted enumerations of lozenge tilings of a hexagon with side lengths a, b+m, c, a+m, b, c+m, where an equilateral triangle of side length m has been removed from the center. We give closed formulas for the plain enumeration and for a certain (? 1)-enumeration of these lozenge tilings. In the case that a=b=c, we also provide closed formulas for certain weighted enumerations of those lozenge tilings that are cyclically symmetric. For m=0, the latter formulas specialize to statements about weighted enumerations of cyclically symmetric plane partitions. One such specialization gives a proof of a conjecture of Stembridge on a certain weighted count of cyclically symmetric plane partitions. The tools employed in our proofs are nonstandard applications of the theory of nonintersecting lattice paths and determinant evaluations. In particular, we evaluate the determinants det0? i, j? n? 1(? ij+(m+i+jj)), where ? is any 6th root of unity. These determinant evaluations are variations of a famous result due to Andrews (1979, Invent. Math.53, 193? 225), which corresponds to ? =1.
Illustrating how mechanical assemblies work

How things work visualizations use a variety of visual techniques to depict the operation of complex mechanical assemblies. We present an automated approach for generating such visualizations. Starting with a 3D CAD model of an assembly, we first infer the motions of individual parts and the interactions between parts based on their geometry and a few user specified constraints. We then use this information to generate visualizations that incorporate motion arrows, frame sequences and animation to convey the causal chain of motions and mechanical interactions between parts. We present results for a wide variety of assemblies.
Effects of Preload 4 Repetition Maximum on 100-m Sprint Times in Collegiate Women

Linder, EE, Prins, JH, Murata, NM, Derenne, C, Morgan, CF, and Solomon, JR. Effects of preload 4 repetition maximum on 100-m sprint times in collegiate women. J Strength Cond Res 24(5): 1184-1190, 2010-The purpose of this study was to determine the effects of postactivation potentiation (PAP) on track-sprint performance after a preload set of 4 repetition maximum (4RM) parallel back half-squat exercises in collegiate women. All subjects (n = 12) participated in 2 testing sessions over a 3-week period. During the first testing session, subjects performed the Controlled protocol consisting of a 4-minute standardized warm-up, followed by a 4-minute active rest, a 100-m track sprint, a second 4-minute active rest, finalized with a second 100-m sprint. The second testing session, the Treatment protocol, consisted of a 4-minute standardized warm-up, followed by 4-minute active rest, sprint, a second 4-minute active rest, a warm-up of 4RM parallel back half-squat, a third 9-minute active rest, finalized with a second sprint. The results indicated that there was a significant improvement of 0.19 seconds (p < 0.05), when the second sprint was preceded by a 4RM back-squat protocol during Treatment. The standardized effect size, d, was 0.82, indicating a large effect size. Additionally, the results indicated that it would be expected that mean sprint times would increase 0.04-0.34 seconds (p < 0.05), when using a preload 4RM squat protocol. There were no significant differences between Control pre and posttests (p > 0.05). The findings suggest that performing a 4RM parallel back half-squat warm-up before a track sprint will have a positive PAP affect on decreased track-sprint times. Track coaches, looking for the “competitive edge” (PAP effect) may re-warm up their sprinters during meets.
Fast harmonic chirp summation

The harmonic chirp signal model has only very recently been introduced for modelling approximately periodic signals with a time-varying fundamental frequency. A number of estimators for the parameters of this model have already been proposed, but they are either inaccurate, non-robust to noise, or very computationally intensive. In this paper, we propose a fast algorithm for the harmonic chirp summation method which has been demonstrated in the literature to be accurate and robust to noise. The proposed algorithm is orders of magnitudes faster than previous algorithms which is also demonstrated via timing studies.
Proteoglycans and their roles in brain cancer

Glioblastoma, a malignant brain cancer, is characterized by abnormal activation of receptor tyrosine kinase signalling pathways and a poor prognosis. Extracellular proteoglycans, including heparan sulfate and chondroitin sulfate, play critical roles in the regulation of cell signalling and migration via interactions with extracellular ligands, growth factor receptors and extracellular matrix components, as well as intracellular enzymes and structural proteins. In cancer, proteoglycans help drive multiple oncogenic pathways in tumour cells and promote critical tumour–microenvironment interactions. In the present review, we summarize the evidence for proteoglycan function in gliomagenesis and examine the expression of proteoglycans and their modifying enzymes in human glioblastoma using data obtained from The Cancer Genome Atlas (http://cancergenome.nih.gov/). Furthermore, we demonstrate an association between specific proteoglycan alterations and changes in receptor tyrosine kinases. Based on these data, we propose a model in which proteoglycans and their modifying enzymes promote receptor tyrosine kinase signalling and progression in glioblastoma, and we suggest that cancer‐associated proteoglycans are promising biomarkers for disease and therapeutic targets.
Genetic Diversity of Indigenous Saccharomyces sensu stricto Yeasts Isolated from Southern Croatia

Summary Alcoholic fermentation is a polimicrobial process involving a large number of genera and species of yeast and bacteria. Th e major yeast genera involved in this process belongs to the Saccharomyces spp. Th e aim of this study was the isolation, identifi cation and determination of genetic diversity of indigenous Saccharomyces cerevisiae natural population taken from cv. Plavac mali from secluded wine growing areas of Southern Croatia. Must samples were taken during the spontaneous alcoholic fermentation followed by yeast isolation. A total of 40 isolates that were physiologically confi rmed to belong to the Saccharomyces sensu stricto group were furthermore diff erentiated by molecular methods. PCR-RFLP analyses of the internal transcribed spacer (ITS1) region of the 18S ribosomal DNA identifi ed 37 of the isolates as S. cerevisiae and two of the isolates as S. bayanus/pastorianus. All isolates were further analyzed by RAPD fi ngerprinting. Th e results of this study showed that in some cases the RAPD assay may be useful to separate species within the Saccharomyces sensu stricto group. Th e molecular analysis confi rmed genetic diversity of S. cerevisiae indigenous population and additionally the involvement of indigenous S. paradoxus and S. bayanus was determined. Th e population structure of Saccharomyces cerevisiae has indicated that each vineyard is characterized with particular S. cerevisiae microfl ora. It is an important step towards the preservation and exploitation of yeast biodiversity in Southern Croatia.
Reactivating PP2A by FTY720 as a Novel therapy for AML with C‐KIT tyrosine kinase domain mutation

The tyrosine kinase domain (TKD) mutations of receptor tyrosine kinase C‐KIT are associated with a poor prognosis in acute myeloid leukemia (AML). However, the underlying mechanisms are not fully understood. We found the activity of protein phosphatase 2A (PP2A), a human tumor suppressor whose dysfunction contributes to malignant cell behavior, was significantly decreased in AML subgroups harboring C‐KIT/D816V and AML cell line Kasumi‐1 bearing C‐KIT/N822K mutation. Primary AML cells and various AML cell lines were treated with PP2A activator FTY720. FTY720 showed a toxic effect in all leukemic cells, especially for cells harboring C‐KIT/TKD mutation. Furthermore, FTY720‐induced toxicity in AML leukemic cells was mediated by restoration of PP2A activity, via down‐regulation of PP2A inhibitor SET, dephosporylation of PP2A‐CTYR307, and up‐regulation of relevant PP2A subunit A and B55α. Our research indicates that the decreased PP2A activity in AML harboring C‐KIT/TKD mutation may make the restoration of PP2A activity a novel therapy for AML patients with C‐KIT/TKD mutation. J. Cell. Biochem. 113: 1314–1322, 2012. © 2011 Wiley Periodicals, Inc.
Visual Variables in UML: a First Empirical Assessment

This paper presents results of an empirical research study of the Unified Modeling Language (UML) use in practice. We employed a selective range of research methodologies including in-depth semi structured interviews and quantitative analysis of > 3500 UML diagrams related to open source projects in GitHub. The aim of the study is to provide greater understanding about the use of UML and to particularly shed light on the use of the visual variables (i.e., color, size, brightness, texture/grain, shape and orientation) in practice. The theoretical perspective of the study is to explore the usefulness of the visual variables in UML. These latter are highly significant in reducing the cognitive load of human beings, when effectively employed. As with all qualitative study, findings should be carefully interpreted, they should be seen as providing better understanding about the aforementioned scopes. We conclude by discussions of the obtained results and lessons learned for future researches.
Dissociation of Chemotaxis from Agonist-induced Receptor Internalization in a Lymphocyte Cell Line Transfected with CCR2B

To investigate the role of the carboxyl-terminal region (52 amino acids) of the monocyte chemoattractant protein 1 receptor (CCR2B) in chemotaxis, we created a series of mutants and expressed them in a murine pre-B lymphocyte cell line. Truncation of the cytoplasmic carboxyl tail to 20 amino acids had little or no effect on chemotaxis or signal transduction, but further truncation resulted in marked functional defects. Upon incubation with monocyte chemoattractant protein 1, CCR2B underwent rapid and extensive internalization, and this was impaired progressively as the carboxyl tail was truncated from 52 to 8 amino acids. Mutation of all of the serine and threonine residues in the carboxyl tail to alanine also resulted in markedly impaired receptor internalization but did not affect signaling or chemotaxis. We conclude that the membrane-proximal portion of the cytoplasmic carboxyl tail of CCR2B is critically involved in chemotaxis and signal transduction, but neither phosphorylation of carboxyl serines or threonines nor internalization of the receptor is required for robust chemotaxis.