Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than acrocentric ones. sSMC can be present in different mosaic rates, which may go below 5% of the studied cells. Also cryptic mosaicism can be present and mosaics may be differently expressed in different tissues of the body. Even though in the overwhelming majority of the cases somatic sSMC mosaicism has no direct clinical effect, there are also cases with altered clinical outcomes due to mosaicism. Also clinically important is the fact that a de novo sSMC, even present in mosaic, may be a hint of uniparental disomy (UPD). As it is under discussion to possibly replace standard karyotyping by methods like array-CGH, the impracticality of the latter to detect low-level sSMC mosaics and/or UPD has to be considered as well. Overall, sSMC mosaicism has to be studied carefully in each individual case, as it can be extremely informative and of importance, especially for prenatal genetic counseling.
Epigenetic Control of the Invasion-promoting MT1-MMP/MMP-2/TIMP-2 Axis in Cancer Cells*

Membrane type-1 matrix metalloproteinase (MT1-MMP) is an activator of soluble MMP-2. The activity of both MMPs is regulated by their physiological inhibitor TIMP-2. An MT1-MMP/MMP-2/TIMP-2 axis plays a key role in the invasive behavior of many cell types. Despite its importance, epigenetic control of this pro-invasive axis is insufficiently studied, and, as a result, its modification in a rational and clinically beneficial manner is exceedingly difficult. Therefore, we performed an epigenetic analysis of the MT1-MMP, MMP-2, and TIMP-2 gene promoters in highly migratory glioblastoma cells and in low migratory breast carcinoma MCF-7 cells. We determined, for the first time, that the epigenetic control leading to the transcriptional silencing of both MMPs includes hypermethylation of the corresponding CpG regions and histone H3 lysine-27 trimethylation (H3K27me3). In turn, undermethylation of the CpG islands and low levels of histone H3 lysine-27 trimethylation are features of transcriptionally active MT1-MMP and MMP-2 genes in invasive cancer cells. Additional histone modifications we have analyzed, including H3ac and H3K4me2, are present in both transcriptionally active and inactive promoters of both MMPs. Histone H3 lysine-4 trimethylation is likely to play no significant role in regulating MT1-MMP and MMP-2. The pattern of epigenetic regulation of TIMP-2 was clearly distinct from that of MMPs and included the coordinated methylation and demethylation of the two CpG regions in the promoter. Our results suggest that the epigenetic control plays an important role in both the balanced regulation of the MT1-MMP/MMP-2/TIMP-2 axis and the invasive behavior in cancer cells.
Evaluation of the Chinese versions of the Minnesota nicotine withdrawal scale and the questionnaire on smoking urges-brief.

OBJECTIVES To evaluate the reliability and validity of the Chinese versions of Minnesota Nicotine Withdrawal Scale and Questionnaire on Smoking Urges-Brief (MNWS-C and QSU-Brief-C) in Chinese smokers. DESIGN AND METHODS MNWS and QSU-Brief were translated into Chinese version through 10 steps. The reliability and validity of Chinese versions of the two scales were evaluated based on the data collected from 354 subjects. Cronbach's alpha coefficient was calculated to assess the reliability. Construct validity were evaluated with confirmatory factor analysis. Criteria validity was examined with correlation analysis between scale scores and patient-evaluated scores of craving and tobacco withdrawal symptoms. RESULTS Cronbach's alpha coefficient of QSU-Brief-C was . 96. Confirmatory factor analysis demonstrated that the fit indexes (adjusted goodness-of-fit index [AGFI], comparative fit index [CFI], normed fit index [NFI], and non-normed fit index [NNFI]) exceeded or approached 0.9. The correlation between QSU-Brief-C scores and patient-evaluated craving scores were statistically significant(r = .75, p < .0001). Cronbach's alpha coefficient of MNWS-C was . 90. Confirmatory factor analysis demonstrated that the fit indexes (AGFI, CFI, NFI, and NNFI) exceeded 0.9. The correlation between MNWS-C scores and patient-evaluated discomfort scores were statistically significant(r = .68, p < .0001). CONCLUSION Both QSU-Brief-C and MNWS-C have satisfactory validity and reliability and retain the two dimensions identified in their corresponding original English versions, which suggest that QSU-Brief-C and MNWS-C can be used in further research and clinical evaluation in Chinese smoking population with acceptable validity and reliability.
Human posture recognition using multi-scale morphological method and Kalman motion estimation

For the purpose of estimating the posture parameters of a moving human body in visual surveillance applications, we present a model-based shape analysis method and convert the problem to the optimal matching of 2D silhouettes of the human body in parametric shape space. We point out the causality of shape similarity in morphological scale space. Based on this causality and after using the /spl alpha/-/spl beta/-/spl gamma/ filter to estimate the initial value of the matching, the method we proposed works in a coarse-to-fine manner on silhouettes practically segmented from a complex environment, and can converge fast enough to meet real-time requirements.
New milbemycin metabolites from the genetically engineered strain Streptomyces bingchenggensis BCJ60

Abstract Two new milbemycin derivatives, 27-methoxylmilbemycin α31 (1) and 27-oxomilbemycin α31 (2), were isolated from the genetically engineered strain Streptomyces bingchenggensis BCJ60. Their structures were determined by 1D NMR, 2D NMR and HR-ESI-MS spectral analysis, and comparison with previous reports. The acaricidal and nematocidal capacities of compounds 1 and 2 were evaluated against Tetranychus cinnabarinus and Bursaphelenchus xylophilus, respectively. The results showed that the two new macrocyclic lactones 1 and 2 possessed potent acaricidal and nematocidal activities.
Simulating the Antarctic ice sheet in the late-Pliocene warm period: PLISMIP-ANT, an ice-sheet model intercomparison project

In the context of future climate change, understanding the nature and behaviour of ice sheets during warm intervals in Earth history is of fundamental importance. The late Pliocene warm period (also known as the PRISM interval: 3.264 to 3.025 million years before present) can serve as a potential analogue for projected future climates. Although Pliocene ice locations and extents are still poorly constrained, a significant contribution to sea-level rise should be expected from both the Greenland ice sheet and the West and East Antarctic ice sheets based on palaeo sea-level reconstructions. Here, we present results from simulations of the Antarctic ice sheet by means of an international Pliocene Ice Sheet Modeling Intercomparison Project (PLISMIP-ANT). For the experiments, ice-sheet models including the shallow ice and shelf approximations have been used to simulate the complete Antarctic domain (including grounded and floating ice). We compare the performance of six existing numerical ice-sheet models in simulating modern control and Pliocene ice sheets by a suite of five sensitivity experiments. We include an overview of the different ice-sheet models used and how specific model configurations influence the resulting Pliocene Antarctic ice sheet. The six ice-sheet models simulate a comparable present-day ice sheet, considering the models are set up with their own parameter settings. For the Pliocene, the results demonstrate the difficulty of all six models used here to simulate a significant retreat or re-advance of the East Antarctic ice grounding line, which is thought to have happened during the Pliocene for the Wilkes and Aurora basins. The specific sea-level contribution of the Antarctic ice sheet at this point cannot be conclusively determined, whereas improved grounding line physics could be essential for a correct representation of the migration of the grounding-line of the Antarctic ice sheet during the Pliocene.
Treating drug problems.

On September 19, 1990, the Institute of Medicine of the National Academy of Sciences released a comprehensive report on drug-treatment programs. * The legislation authorizing the report had asked for recommendations on support for the rehabilitation of drug abusers. To satisfy this charge, the institute appointed a committee whose areas of expertise ranged from insurance administration to pharmacology. The committee visited clinics, funding agencies, and referral sources in six states, analyzed data from two recent national surveys, commissioned seven papers, and documented its report with 250 key citations. The Need for Treatment The committee found the drug problem to be a .
Phonotactic regularities in the segmentation of spoken Italian

Five word-spotting experiments explored the role of consonantal and vocalic phonotactic cues in the segmentation of spoken Italian. The first set of experiments tested listeners’ sensitivity to phonotactic constraints cueing syllable boundaries. Participants were slower in spotting words in nonsense strings when target onsets were misaligned (e.g., lago in ri.blago) than when they were aligned (e.g., lago in rin.lago) with phonotactically determined syllabic boundaries. This effect held also for sequences that occur only word-medially (e.g., /tl/ in ri.tlago), and competition effects could not account for the disadvantage in the misaligned condition. Similarly, target detections were slower when their offsets were misaligned (e.g., cittá in cittáu.ba) than when they were aligned (e.g., cittá in cittá.oba) with a phonotactic syllabic boundary. The second set of experiments tested listeners’ sensitivity to phonotactic cues, which specifically signal lexical (and not just syllable) boundaries. Results corroborate the role of syllabic information in speech segmentation and suggest that Italian listeners make little use of additional phonotactic information that specifically cues word boundaries.
A 21 Point Unifying Hypothesis on the Etiology and Treatment of Multiple Sclerosis

ABSTRACT: Multiple sclerosis (MS) is postulated to be a cell mediated autoimmune disease directed against central nervous system myelin components. Our understanding of the disease has been enhanced by a number of factors: 1) advances in our understanding of the immune system; 2) clinical trials which are beginning to identify treatments which can affect MS; 3) a better understanding of the clinical features of MS; and 4) advances in MRI imaging of the brain. Based on the current state of knowledge, this paper proposes a 21 point unifying hypothesis on the etiology and treatment of the disease. This hypothesis makes a series of assumptions, many of which are unproven, and is presented as a framework from which to investigate and treat the disease, not as a established biology. It is hypothesized that the underlying pathogenesis of MS is related to an inappropriate class of immune response against myelin antigens favoring proinflammatory Th1 versus anti-inflammatory Th2 or Th3 type responses. Environmental and genetic factors predispose toward MS by affecting the class of response and effectiveness of treatment is also related to how it impacts on this common final pathway. Because of epitope spreading, there is not one autoantigen involved in MS and the progressive form of MS differs immunologically from the relapsing remitting form. Viruses trigger and perpetuate MS, although MS is not related to a persistent viral infection. Because MS is a multifactorial disease, there are clinical and perhaps immunological subtypes of MS and a single type of treatment is unlikely to control the disease in all patients. Thus, there will be responders and non-responders to each effective therapy and ultimately combination therapy will be required to cure the disease.
Efficacy of Oxcarbazepine in the Treatment of Painful Diabetic Neuropathy

Objectives:To evaluate the safety, tolerability, and efficacy of oxcarbazepine in the treatment of painful diabetic neuropathy. Methods:This was an open-label, 9-week trial, consisting of a 1-week prospective Screening Phase followed by an 8-week Treatment Phase. Treatment with oxcarbazepine was initiated at 150 mg/day, and the daily dose was doubled on a weekly basis and titrated to tolerability over 4 weeks, up to 1200 mg/day. This was followed by a 4-week fixed-dose Maintenance Phase, during which patients were maintained on oxcarbazepine at 1200 mg/day or highest tolerated dose. The primary efficacy variable was the change in the weekly pain rating assessed on the Visual Analog Scale (VAS) of the short-form McGill Pain Questionnaire between the Screening Phase and the Treatment Phase. All analyses were performed on the intent-to-treat population. Results:Thirty patients were enrolled in the trial. The mean daily oxcarbazepine dose during the Maintenance Phase was 814 mg. The mean VAS score dropped from 66.3 during the Screening Phase to 34.3 at the end of the trial (P = 0.0001), for a mean reduction of 48.3%. In addition, there were significant improvements in the total pain score and present pain intensity. Oxcarbazepine was well tolerated, with the most common adverse events consisting of drowsiness and dizziness. Discussion:The results suggest that oxcarbazepine administered as monotherapy is an efficacious and safe option for the symptomatic treatment of pain associated with symmetrical diabetic neuropathy. These results will need to be confirmed in large, double-blind, placebo-controlled, randomized clinical trials.
Profitability, investment, and efficiency wages

We examine a model that blends the neoclassical theory of investment with an intertemporal efficiency wage model with turnover costs. Investment decisions in capital are associated with the allocation of labor and the determination of efficiency wages. The model relates Tobin's q to efficiency wages and, in particular, to the Solow condition. It provides a general framework to analyze firm's intertemporal choices of capital, labor and efficiency wages.
Endocrinology of anorexia nervosa in young people: recent insights

Purpose of reviewAnorexia nervosa is among the most prevalent chronic medical conditions in young adults. It has acute as well as long-term consequences, some of which, such as low bone mineral density (BMD), are not completely reversible even after weight restoration. This review discusses our current understanding of endocrine consequences of anorexia nervosa. Recent findingsAnorexia nervosa is characterized by changes in multiple neuroendocrine axes including acquired hypogonadotropic hypogonadism, growth hormone resistance with low insulin-like growth factor-1 (likely mediated by fibroblast growth factor-1), relative hypercortisolemia, alterations in adipokines such as leptin, adiponectin and resistin, and gut peptides including ghrelin, PYY and amylin. These changes in turn contribute to low BMD. Studies in anorexia nervosa have demonstrated abnormalities in bone microarchitecture and strength, and an association between increased marrow fat and decreased BMD. One study in adolescents reported an improvement in BMD following physiologic estrogen replacement, and another in adults demonstrated improved BMD following risedronate administration. Brown adipose tissue is reduced in anorexia nervosa, consistent with an adaptive response to the energy deficit state. SummaryAnorexia nervosa is associated with widespread physiologic adaptations to the underlying state of undernutrition. Hormonal changes in anorexia nervosa affect BMD adversely. Further investigation is underway to optimize therapeutic strategies for low BMD.
Fine‐needle aspiration cytology of papillary renal cell carcinoma: The association with concomitant secondary malignancies

Papillary renal cell carcinoma is a rare type of renal malignancy. Cytogenetic findings characteristic for this tumor have been described as well as mutations of the proto‐oncogene c‐met. Secondary malignancies occurring together with papillary renal cell carcinomas are rare, and are often of genitourinary tract origin. We describe two cases of papillary renal cell carcinoma occurring in association with two other visceral malignancies, gastrointestinal stromal tumor and colon adenocarcinoma.
Vici syndrome in siblings born to consanguineous parents

Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum, micrognathia, fair hair, and skin. They both had general hypotonia and elevated muscle enzymes. Magnetic resonance imaging (MRI) of the brain confirmed agenesis of corpus callosum in both patients. Secundum type atrial septal defect (in Patient 1) and mild mitral, tricuspid, and pulmonary insufficiency (in Patient 2) were detected by echocardiographic examination. Immunological studies were normal, as were chromosome karyotype analyses (46, XY). Both children had bilateral cutaneous syndactyly between second and third toes and also bilateral sensorineural hearing loss. Patient 1 had poor feeding and regurgitation necessitating a feeding tube; mild laryngomalacia was subsequently detected by bronchoscopy. Mutation analysis in patient 2 showed a homozygous p.R2483* (c.7447C > T) mutation in EPG5 gene. We report a summary of the clinical findings in our patients and 29 cases from the literature. © 2015 Wiley Periodicals, Inc.
Reconocimiento automático de voz emotiva con memorias asociativas Alfa-Beta SVM

Resumen —Una de las de investigacion de mayor interes y con mas crecimiento en la actualidad, dentro del area de procesamiento de voz, es el reconocimiento automatico de emociones, el cual consta de 2 etapas; la primera es la extraccion de parametros a partir de la senal de voz y la segunda es la eleccion del modelo para hacer la tarea de clasificacion. La problematica que actualmente existe es que no se han identificado aun los parametros mas representativos del problema ni tampoco se ha encontrado al mejor clasificador para hacer la tarea. En este articulo se introduce un nuevo modelo asociativo de reconocimiento automatico de voz emotiva basado en las maquinas asociativas Alfa-Beta SVM, cuyas entradas se han codificado como representaciones bidimensionales de la energia de las senales de voz. Los resultados experimentales muestran que este modelo es competitivo en la tarea de clasificacion automatica de emociones a partir de senales de voz [1].
Effect of Color Schemes and Environmental Sensitivity on Job Satisfaction and Perceived Performance

Effects of interior office color and individual stimulus screening ability, i.e., instinctive perceptual filtering of irrelevant stimuli, on perceived performance and job satisfaction were examined on various outcome measures over a 4-day work week in a laboratory setting. Workers performed specific tasks and worked regular hours for 4 consecutive days in the same office. They were separated into three groups according to their ability to ignore irrelevant stimuli in the interior space. Those in the white and predominantly blue-green offices reported higher perceived job performance and satisfaction than those in the predominantly red office regardless of stimulus screening ability. Workers with high to moderate stimulus screening ability indicated greater perceived performance and job satisfaction than did workers with low stimulus screening ability. Results for color schemes are discussed in terms of preference and social expectations.
Sustained activation of Rac1 in hepatic stellate cells promotes liver injury and fibrosis in mice

Rac, a small, GTP‐binding protein in the Rho family, regulates several cellular functions, including the activation of NADPH oxidase, a major intracellular producer of reactive oxygen species (ROS). Hepatic stellate cells (HSCs) isolated from mice that are genetically deficient in NADPH oxidase produce less ROS, and their activation during chronic liver injury is abrogated, resulting in decreased liver fibrosis. Therefore, we hypothesized that HSC ROS production and activation would be enhanced, and fibrosis worsened, by increasing Rac expression in HSCs. To achieve this, we used transgenic mice that express constitutively active human Rac1 under the control of the α‐smooth muscle actin (α‐sma) promoter, because α‐sma expression is induced spontaneously during HSC activation. Transgene expression was upregulated progressively during culture of primary Rac‐transgenic HSCs, and this increased HSC ROS production as well as expression of activation markers and collagen. Similarly, Rac mice treated with carbon tetrachloride (CCl4) accumulated greater numbers of activated HSCs and had more liver damage, hepatocyte apoptosis, and liver fibrosis—as well as higher mortality—than CCl4‐treated wild‐type mice. In conclusion, sustained activation of Rac in HSCs perpetuates their activation and exacerbates toxin‐induced liver injury and fibrosis, prompting speculation that Rac may be a therapeutic target in patients with cirrhosis. (HEPATOLOGY 2006;44:1267–1277.)
Vergleich zwischen gemessenen und berechneten modalen Parametern

Ziel von Modaltests ist haufig, neben der direkten Verwendung des identifizierten modalen Modells, die Verbesserung des mathematischen Modells, zumeist ein Finite-Elemente Modell (FE-Modell). In einem ersten Schritt mussen dazu zunachst die experimentell bestimmten modalen Parameter mit denjenigen des FE-Modells korreliert werden, d.h. insbesondere mussen gemessene und analytische Eigenformen einander zugeordnet werden. In Abschnitt 2 werden wesentliche Korrelationsmase vorgestellt und an Beispielen erlautert. Im Abschnitt 3 werden einige hier relevante Aspekte der praktischen Durchfuhrung von Experimenten, zum Beispiel der Einflus der Randbedingungen auf die Ergebnisse, behandelt. In den weiteren Abschnitten werden dann Techniken fur das Aufbereiten der Mesdaten oder des analytischen Modells erlautert, die die Anwendung bestimmter Korrelationsmase uberhaupt erst ermoglichen. Zu nennen sind die Handhabung gemessener komplexer Eigenvektoren sowie Reduktions- und Expansionsverfahren, um das Problem der typischerweise unterschiedlichen Grose von experimentellen und analytischen Modellen bzw. Datensatzen zu losen.