Miracle-dz/UniFAR-FTUs huggingface dataset:
Andersen‐Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity

Due to its varied and variable phenotypes, Andersen‐Tawil syndrome (ATS) holds a unique place in the field of channelopathies. Patients with ATS typically present with the triad of periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms. Although penetrance of ATS is high, disease expression and severity are remarkably variable. Mutations in KCNJ2 are the primary cause of ATS with 21 mutations discovered in 30 families. These mutations affect channel function through heterogeneous mechanisms, including reduced PIP 2 ‐related channel activation and altered pore function. Aside from KCNJ2‐based ATS, the genetic basis of this disease in nearly 40% of cases is unknown. Other ATS genes likely share a common pathway or function with Kir2.1 or facilitate the activity of this ion channel. In this review, we explore hypotheses explaining the pathogenesis, expression, and variability of ATS.
Effective Measures of Domain Similarity for Parsing

It is well known that parsing accuracy suffers when a model is applied to out-of-domain data. It is also known that the most beneficial data to parse a given domain is data that matches the domain (Sekine, 1997; Gildea, 2001). Hence, an important task is to select appropriate domains. However, most previous work on domain adaptation relied on the implicit assumption that domains are somehow given. As more and more data becomes available, automatic ways to select data that is beneficial for a new (unknown) target domain are becoming attractive. This paper evaluates various ways to automatically acquire related training data for a given test set. The results show that an unsupervised technique based on topic models is effective -- it outperforms random data selection on both languages examined, English and Dutch. Moreover, the technique works better than manually assigned labels gathered from meta-data that is available for English.
An algorithm to identify medication nonpersistence using electronic pharmacy databases

OBJECTIVE Identifying patients who are medication nonpersistent (fail to refill in a timely manner) is important for healthcare operations and research. However, consistent methods to detect nonpersistence using electronic pharmacy records are presently lacking. We developed and validated a nonpersistence algorithm for chronically used medications. MATERIALS AND METHODS Refill patterns of adult diabetes patients (n = 14,349) prescribed cardiometabolic therapies were studied. We evaluated various grace periods (30-300 days) to identify medication nonpersistence, which is defined as a gap between refills that exceeds a threshold equal to the last days' supply dispensed plus a grace period plus days of stockpiled medication. Since data on medication stockpiles are typically unavailable for ongoing users, we compared nonpersistence to rates calculated using algorithms that ignored stockpiles. RESULTS When using grace periods equal to or greater than the number of days' supply dispensed (i.e., at least 100 days), this novel algorithm for medication nonpersistence gave consistent results whether or not it accounted for days of stockpiled medication. The agreement (Kappa coefficients) between nonpersistence rates using algorithms with versus without stockpiling improved with longer grace periods and ranged from 0.63 (for 30 days) to 0.98 (for a 300-day grace period). CONCLUSIONS Our method has utility for health care operations and research in prevalent (ongoing) and new user cohorts. The algorithm detects a subset of patients with inadequate medication-taking behavior not identified as primary nonadherent or secondary nonadherent. Healthcare systems can most comprehensively identify patients with short- or long-term medication underutilization by identifying primary nonadherence, secondary nonadherence, and nonpersistence.
Phonological and phonetic effects of minor phrase length on f0 in Japanese

The Minor Phrase (MiP, aka accentual phrase) is the prosodic constituent that immediately dominates the prosodic word (PWd) in the prosodic structure hierarchy; it may consist of one or more PWd. In Japanese all MiPs are marked by an initial LH rise. This paper examines the scaling of the initial rise in single-word MiPs in Japanese as a function of the syllable/mora length of the word constituting the MiP, the position of the MiP with respect to edges of prosodic major phrase (MaP), and the composition of MiP in terms of lexical accent. These rises are found to be subject to two types of scaling: (i) local, edge-based scaling, specifically the upward “resetting” of f0 seen at the left edge of MaP (aka intermediate phrase) [1, 2 3], and (ii) global, lookahead-based scaling, in this case the upward scaling of the f0 of MiP-initial peaks as a function of the overall length of the MiP in terms of syllables/moras. Word length also turns out to have an indirect influence on local, edge-based scaling in Japanese, since it can be shown that word length has an effect on the number and distribution of major and minor prosodic phrases in the phonological representation as well. 1. Background and Findings For Japanese, it has been shown that the left edge of a prosodic MaP, which typically appears at the left edge of a major syntactic phrase, is the context for a significant upward “resetting” of pitch [5, 6, 1, 2, 4]. [2] and [4] explicitly compare the realization of LH rises at the left edges of MiPs which coincide with the left edge of MaP to MiP-initial rises that are medial in MaP and find the former to be significantly higher. (These results are replicated in the present experiment.) Such an effect of prosodic organization on f0 realization is local and edge-based insofar as the phonetic realization mechanism can produce these effects in conditions defined locally, in proceeding from left to right in the utterance. Some have claimed that the overall word or syllable count of an utterance must be a factor in f0 realization [7]. The existence, or even possibility, of this sort of global, lookahead effect has been contested [8], and no lookahead effect has to our knowledge been reported for Japanese. In our recent research, however, we have found a syllable or mora-counting lookahead effect at the level of the MiP in Japanese—the longer the anticipated MiP, the greater the initial rise, and the higher the initial peak. The paper also reports an effect of the syllable/mora count of MiPs that is phonological in kind: words consisting of 3 moras contrast with words consisting of 5 and 7 moras in their ability to stand alone as MiPs in the larger prosodic structure. So word length here too does have an (indirect) effect on the phonetic realization of f0, insofar as it influences the prosodic structure of the output phonological representation, which is input to the phonetics.
Gestational Surrogacy

With the development of extra corporeal fertilization (in vitro fertilization embryo transfer [IVF-ET]) almost 20 years ago, we opened the door to the treatment of most forms of reproductive failure. Inherent within the various treatment modalities is the need for a normal male and female gamete. Currently, it is possible to have only a single normal gamete of each gender to accomplish success with these various techniques. Today with single-sperm injection (intracytoplasmic sperm injection) we can accomplish fertilization in couples who prior to this time would never have been able to accomplish gamete fusion. Therefore, in rare situations today where gamete abnormality is present, donor gametes are substituted with any of the assisted reproductive technologies (ARTs) to proceed with the reversal of the couple's infertile state. Most often, egg donation is utilized with infertile couples as a result of either ovarian failure or advanced age of the woman who has decreased odds of the ART procedure producing a successful outcome. Reproductive failure can still persist in cases where gamete production is normal, but uterine function is either abnormal or absent. To treat these disorders, the use of surrogate gestational carriers has become a helpful clinical tool in assisting couples in having their genetic offspring when the female has no uterine function. Consider this situation, an infertile couple desiring a genetically related offspring. The limiting factor, a woman with an absent or nonfunctional uterus. Today's solution is gestational surrogacy This technique involves the use of the Woman's eggs and her husband's sperm to form an embryo in vitro. The resulting genetically related embryo is implanted into a related or unrelated third-party female serving as a gestational carrier. This form of ART has the most appeal to couples who are facing infertility related to abnormal or absent uterine function. It does provide this couple with a genetically related offspring to both parents, instead of it just being related to the father as in an egg donation program, or to the mother as in sperm donation. The pitfall of this type of ART is the creation of one child with potentially two mothers. In addition, the legal and ethical issues encompassed in this topic of gestational surrogacy have yet to be detailed on a universal basis. Each level of this procedure must be carefully considered and evaluated. Evaluation involves counseling and psychological preparation of the surrogate before, during, and long after the pregnancy has been completed.
DiffLDA : Topic Evolution in Software Projects [ Technical Report 2010-574 ] July 2010

Previous research has shown that topics can be automatically discovered in a software project’s source code. Topics are collections of words that co-occur frequently in a text collection and are discovered using topic models such as latent Dirichlet allocation (LDA). Tracking how topics evolve, i.e., grow and spread, over time is useful for supporting software maintenance, comprehension, and re-engineering activities. The evolution of topics is typically recovered by applying LDA to all versions of a project’s source code at once, followed by post processing to map topics across versions. Although this technique works well in applications where each version of the data is completely different, for example in the analysis of conference proceedings, the technique does not work well with source code, which typically changes only incrementally and contains significant duplication across versions. In this paper, we present a new approach, called DiffLDA, for automatically mining topic evolution in source code. The approach addresses LDA’s sensitivity to document duplication by operating on the differences between versions of a source code document, resulting in a more accurate, finer-grained representation of topic evolution. We validate our approach through case studies on simulated data and two open source projects.
Is religion good for your health? : the effects of religion on physical and mental health

Contents Foreword * Introduction * Mrs. Bernard's Story * Societal Trends in the Twentieth and Twenty-First Centuries * Negative Effects of Religion on Health * Are Americans Becoming Less Religious? * Religion and Mental Health * Religion and Physical Health * Conclusions and Reanalysis * Implications * General Reviews of the Research Literature * Index * Reference Notes Included
Oxygen metabolism changes and outcome in response to immediate colloid treatment in the endotoxaemic rat

A colloid (Hespan®) fluid regimen in a 4 h rat model of endotoxaemia was used to prevent the development of the early hypodynamic phase of shock. Groups (N = 10 each) of isoflurane‐anaesthetized, male Sprague‐Dawley rats received either 1) E. coli endotoxin (E, 20 mg · kg−1 BW, i.v.), 2) 0.9% saline (S), 3) endotoxin + Hespan (E + H), or 4) saline + Hespan (S + H). After a 30 min baseline, 15 ml of 6% hetastarch (Hespan) were infused over 1 h beginning 1 min after endotoxin or saline. Pulmonary artery wedge pressures suggested no fluid overload in the E + H or S + H groups. By the end of the study, there were six spontaneous deaths in the E group vs. no deaths in the other groups. However, despite successful prevention of the early hypodynamic response together with increased cardiac output, increased oxygen delivery, decreased oxygen extraction, and sustained normal oxygen consumption in the E + H group, this fluid regimen failed to prevent significant and progressive acidaemia and hyperlactataemia. Also, by 4 h the E + H group exhibited declining blood pressures, marked hypoglycaemia, and significant small intestinal damage. Our results indicate that the early hypotensive, hypodynamic period is not crucial for the development of significant pathology in endotoxaemia, and that early flow‐dependency of whole body oxygen uptake is not inherent to the early response to endotoxin in this model.
Flavonoid Aglycones from the Leaf Surfaces of Some Artemisia spp. (Compositae-Anthemideae)

Abstract Several species of the large genus Artemisia have been analysed for the flavonoid aglycone composition of their leaf exudates. These species belong to different taxonomic groups within Artemisia. Flavone and flavonol aglycones were found as the major flavonoid constituents of the leaf exudates. Many of these compounds were 6-methoxylated, with additional substitutions at the 7-, 3′-and 4′-position of the molecule. In addition, 7,4′-substituted apigenin and luteolin derivatives and rarely also coumarin derivatives were encountered in some species. The observed substitution trends are in accordance with literature data. Taxonomic and ecological aspects are briefly discussed.
Early and Late Mechanisms of Surround Suppression in Striate Cortex of Macaque

The response of a neuron in striate cortex to an optimally configured visual stimulus is generally reduced when the stimulus is enlarged to encroach on a suppressive region that surrounds its classical receptive field (CRF). To characterize the mechanism that gives rise to this suppression, we measured its spatiotemporal tuning, its susceptibility to contrast adaptation, and its capacity for interocular transfer. Responses to an optimally configured grating confined to the CRF were strongly suppressed by annular surrounding gratings drifting at a wide range of temporal and spatial frequencies (including spatially uniform fields) that extended from well below to well above the range that drives most cortical neurons. Suppression from gratings capable of driving cortical CRFs was profoundly reduced by contrast adaptation and showed substantial interocular transfer. Suppression from stimuli that lay outside the spatiotemporal passband of most cortical CRFs was relatively stronger when the stimulus on the CRF was of low contrast, was generally insusceptible to contrast adaptation, and showed little interocular transfer. Our findings point to the existence of two mechanisms of surround suppression: one that is prominent when high-contrast stimuli drive the CRF, is orientation selective, has relatively sharp spatiotemporal tuning, is binocularly driven, and can be substantially desensitized by adaptation; the other is relatively more prominent when low-contrast stimuli drive the CRF, has very broad spatiotemporal tuning, is monocularly driven, and is insusceptible to adaptation. Its character suggests an origin in the input layers of primary visual cortex, or earlier.
Stochastic Volatility in General Equilibrium

The connections between stock market volatility and returns are studied within the context of a general equilibrium framework. The framework rules outa prioriany purely statistical relationship between volatility and returns by imposing uncorrelated innovations. The main model generates a two-factor structure for stock market volatility along with time-varying risk premiums on consumption and volatility risk. It also generates endogenously a dynamic leverage effect (volatility asymmetry), the sign of which depends upon the magnitudes of the risk aversion and the intertemporal elasticity of substitution parameters.
Identifying Patients at Risk of Complete Nonresponse in the Outpatient Treatment of Depression

Background: Although complete nonresponse in depression treatment is considered to be a major problem in clinical practice, research in this area is very limited. The objective of this preliminary study was to determine the frequency and predictors of complete nonresponse in different treatments for depression. Methods: Post hocanalysis of the pooled data of 3 consecutive randomized controlled trials of outpatient depression treatment was conducted. The subjects were 313 patients with major depressive disorder and 17-item Hamilton Rating Scale for Depression (HAM-D-17) scores between 14 and 25 who were treated for 6 months with either pharmacotherapy, short-term psychodynamic supportive psychotherapy or combined therapy. Complete nonresponse was defined as a <25% response according to the HAM-D-17. Sociodemographic factors, depression features and adherence were investigated as predictors in a multivariate stepwise logistic regression analysis. Results: Overall, nonresponse occurred in 34% of the patients. In pharmacotherapy this was 46%, in psychotherapy 39% and in combined therapy 28%. The severity of somatic symptoms was associated with nonresponse in both combined therapy and psychotherapy. No predictive factors were found in the case of pharmacotherapy. In psychotherapy, nonresponse was related to age above 40 years, chronic depression and nonadherence by the patient. In the case of combined therapy, younger age, previous use of an antidepressant and having a previous depressive episode were associated with nonresponse. Conclusion: Easily measurable patient characteristics may help to identify patients at risk of complete nonresponse to treatment. It is suggested that predictors may differ across treatment modalities. However, head-to-head comparisons are required before it can be recommended to take this into account when selecting the most appropriate treatment for individual depressed patients.
Continuous RBM Based Deep Neural Network for Wind Speed Forecasting in Hong Kong

The wind speed forecasting in Hong Kong is more difficult than in other places in the same latitude for two reasons: the great affect from the urbanization of Hong Kong in the long term, and the very high wind speeds brought by the tropical cyclones. Therefore, prediction model with higher learning ability is in need for the wind speed forecast in Hong Kong. In this paper, we try to employ the Deep Neural Network (DNN) to solve the time series problem of wind speed forecasting in Hong Kong since it is believed that Neural Network (NN) with deep architectures can provide higher learning ability than shallow NN model. Especially, in our paper, we use the continuous Restricted Boltzmann Machine (CRBM) to build the network architecture of the DNN. The CRBM is the continuous valued version of the classical binary valued Restricted Boltzmann Machine (RBM). Compared with the Stacked Auto-Encoder (SAE) model applied in our previous study, this CRBM model is more generative, and therefore more suitable for simulating the data in wind speed domain. In our research, we employ the DNN to process the massive wind speed data involving millions of hourly records provided by The Hong Kong Observatory (HKO). The results show that the applied approach is able to provide a better features space for computational models in wind speed data domain, and this approach is also a new potential tool for the feature fusion of continuous valued time series problems. Keywords—Deep Neural Network, Continuous Restricted Boltzmann Machine, Wind Speed Forecasting, Feature Representation
Preparing Counselors for Disadvantaged Students Using Videotape and IPR.

This program describes an experimental series of six training workshops, directed toward the unique needs of counselors in inner-city schools. The workshops attempted to counteract insularity in current counselor education programs (textbooks and tape recorded interviews) by providing new and more potent methods for counseling disadvantaged students. The training sessions used videotaped stimulus vignettes, small group interaction exercises, and Interpersonal Process Recall demonstrations and recall sessions. The trainees were 12 masters degree candidates in Counselor Education at New York University; simultaneously, they were employed as counselors and teachers in "inner city" schools in New York City. The stimulus materials were videotaped by the workshop leader, and situations used in training were directly relevant to the trainees' ongoing needs and experiences in their work settings. Workshop sessions consisted of small group participation in structural exercises, which were videotaped, and large group discussions. Trainees viewed 12 threatening and immediate stimulus vignettes during which they were videotaped; small group interactions and total group discussions were also videotaped and played back, and IPR was used as a continuing vehicle for counselor supervision throughout the workshop series. Results of the workshop were rated as positive by the trainees. (Author) PREPARING COUNSELORS FOR DISADVANTAGED STUDENTS USING VIDEOTAPE & IPR PATRICIA J. MA SLOW Assistant Professor of Counselor Education New York University S DEPARTMENT Of WEALTH, EDUCATION& WELFARE NATIONAL INSTITUTE OF inucev TNIS DOCUMENT HASBEEN REPRO OUCED EXACTLY AS RECEIVED FROM THE PERSON OR ORGANIZATION ORIGIN ATIND IT POINTS OF VIEW Ok OPMFONS STATED DO NOT NECESSARILY REPRE SENT OFFICIAL NATIONAL INSTITUTE OF EDUCATION POSITION OR 7,0L ICY
SHARC-2 350 μm Observations of Distant Submillimeter-selected Galaxies

We present 350 μm observations of 15 Chapman et al. submillimeter galaxies (SMGs) with radio counterparts and optical redshifts. We detect 12 and obtain sensitive upper limits for three, providing direct, precise measurements of their far-infrared luminosities and characteristic dust temperatures. With these, we verify the linear radio-far-infrared correlation at redshifts of z ~ 1-3 and luminosities of 1011-1013 L☉, with a power-law index of 1.02 ± 0.12 and rms scatter of 0.12 dex. However, either the correlation constant q or the dust emissivity index β is lower than measured locally. The best-fitting q ≃ 2.14 is consistent with SMGs being predominantly starbust galaxies, without significant AGN contribution, at far-infrared wavelengths. Gas-to-dust mass ratios are estimated at 54 , depending on the absoption efficiency κν, with intrinsic dispersion ≃40% around the mean value. Dust temperatures consistent with 34.6 ± 3 K (1.5/β)0.71, at z ~ 1.5-3.5, suggest that far-infrared photometric redshifts may be viable, and perhaps accurate to 10% ≲ dz/(1 + z), for up to 80% of the SMG population in this range, if the above temperature characterizes the full range of SMGs. However, observed temperature evolution of Td ∝ (1 + z) is also plausible and could result from selection effects. From the observed luminosity-temperature (L-T) relation, L ∝ T, we derive scaling relations for dust mass versus dust temperature, and we identify expressions to interrelate the observed quantities. These suggest that measurements at a single wavelength, in the far-infrared, submillimeter, or radio wave bands, might constrain dust temperatures and far-infrared luminosities for most SMGs with redshifts at z ~ 0.5-4.