Miracle-dz/UniFAR-FTUs huggingface dataset:
Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.
Exploring XML web collections with DescribeX

As Web applications mature and evolve, the nature of the semistructured data that drives these applications also changes. An important trend is the need for increased flexibility in the structure of Web documents. Hence, applications cannot rely solely on schemas to provide the complex knowledge needed to visualize, use, query and manage documents. Even when XML Web documents are valid with regard to a schema, the actual structure of such documents may exhibit significant variations across collections for several reasons: the schema may be very lax (e.g., RSS feeds), the schema may be large and different subsets of it may be used in different documents (e.g., industry standards like UBL), or open content models may allow arbitrary schemas to be mixed (e.g., RSS extensions like those used for podcasting). For these reasons, many applications that incorporate XPath queries to process a large Web document collection require an understanding of the actual structure present in the collection, and not just the schema. To support modern Web applications, we introduce DescribeX, a powerful framework that is capable of describing complex XML summaries of Web collections. DescribeX supports the construction of heterogenous summaries that can be declaratively defined and refined by means of axis path regular expression (AxPREs). AxPREs provide the flexibility necessary for declaratively defining complex mappings between instance nodes (in the documents) and summary nodes. These mappings are capable of expressing order and cardinality, among other properties, which can significantly help in the understanding of the structure of large collections of XML documents and enhance the performance of Web applications over these collections. DescribeX captures most summary proposals in the literature by providing (for the first time) a common declarative definition for them. Experimental results demonstrate the scalability of DescribeX summary operations (summary creation, as well as refinement and stabilization, two key enablers for tailoring summaries) on multi-gigabyte Web collections.
Some aspects of Rocky Mountain spotted fever as shown by recent investigations. 1909.

As your lecturer on this occasion it will be my privilege, a most honorable one, to present a more or less succinct account of an investigation of Rocky Mountain spotted (or tick) fever, which has been under way for more than three years, and which, it is believed, has contributed results of value for a better understanding of the disease, in certain important aspects. Many of the essentials have been described in scattered articles in two different journals, and in two reports which have been rendered to the State Board of Health of Montana.
Antibacterial Activity of Eravacycline (TP-434), a Novel Fluorocycline, against Hospital and Community Pathogens

ABSTRACT Eravacycline (TP-434 or 7-fluoro-9-pyrrolidinoacetamido-6-demethyl-6-deoxytetracycline) is a novel fluorocycline that was evaluated for antimicrobial activity against panels of recently isolated aerobic and anaerobic Gram-negative and Gram-positive bacteria. Eravacycline showed potent broad-spectrum activity against 90% of the isolates (MIC90) in each panel at concentrations ranging from ≤0.008 to 2 μg/ml for all species panels except those of Pseudomonas aeruginosa and Burkholderia cenocepacia (MIC90 values of 32 μg/ml for both organisms). The antibacterial activity of eravacycline was minimally affected by expression of tetracycline-specific efflux and ribosomal protection mechanisms in clinical isolates. Furthermore, eravacycline was active against multidrug-resistant bacteria, including those expressing extended-spectrum β-lactamases and mechanisms conferring resistance to other classes of antibiotics, including carbapenem resistance. Eravacycline has the potential to be a promising new intravenous (i.v.)/oral antibiotic for the empirical treatment of complicated hospital/health care infections and moderate-to-severe community-acquired infections.
Fall Detection With Multiple Cameras: An Occlusion-Resistant Method Based on 3-D Silhouette Vertical Distribution

According to the demographic evolution in industrialized countries, more and more elderly people will experience falls at home and will require emergency services. The main problem comes from fall-prone elderly living alone at home. To resolve this lack of safety, we propose a new method to detect falls at home, based on a multiple-cameras network for reconstructing the 3-D shape of people. Fall events are detected by analyzing the volume distribution along the vertical axis, and an alarm is triggered when the major part of this distribution is abnormally near the floor during a predefined period of time, which implies that a person has fallen on the floor. This method was validated with videos of a healthy subject who performed 24 realistic scenarios showing 22 fall events and 24 cofounding events (11 crouching position, 9 sitting position, and 4 lying on a sofa position) under several camera configurations, and achieved 99.7% sensitivity and specificity or better with four cameras or more. A real-time implementation using a graphic processing unit (GPU) reached 10 frames per second (fps) with 8 cameras, and 16 fps with 3 cameras.
Boosting superpage utilization with the shadow memory and the partial-subblock TLB

While superpage is an efficient solution to increase TLB reach, its limited flexibility for address mapping is still a hard issue. Our proposed mechanism has been developed for taking advantage of two previous approaches which resolve the issue partially: the partial-subblock TLB and the shadow memory. Through integration of them, our mechanism enjoys various benefits inherited from the both sides. By adopting Memory Controller TLB (MTLB) from the shadow memory, it allows superpages to be composed of arbitrary physical pages. The entry structure of the partial-subblock TLB applied for the processor TLB enables all invalid address mappings to be identified inside CPU, which reduces the overhead of handling invalid mappings. In addition, cache flushing which is required when a mapping of shadow address to physical address is destroyed (e.g. due to paging) can be replaced just by resetting the corresponding valid bit in the processor TLB. At last, the per-base-page reference bits in the processor TLB make the page replacement policy of the operating system more efficient. In simulation with six benchmarks, our mechanism generates only 27% of TLB misses compared to the single-page-size TLB. With a detailed analysis, it is shown to be evident that the efficiency of our mechanism is magnified in real computing environment where multitasking and applications of large sizes are ordinary cases.
A low-power low-noise synchronous pixel front-end chain in 65 nm CMOS technology with local fast ToT encoding and autozeroing for extreme rate and radiation at HL-LHC

A low-power and low-noise synchronous front-end chain in a commercial 65 nm CMOS technology suitable for the future pixel upgrades at the CERN Large Hadron Collider (LHC) is presented. A shaper-less Charge-Sensitive Amplifier (CSA) with constant current feedback provides triangular pulse shaping for linear Time-over-Threshold (ToT) charge measurement. The sensor leakage current is compensated by the same feedback network. A track-and-latch voltage comparator is adopted for the hit discrimination. The hit generation is synchronized with a 40 MHz clock, minimizing time-walk issues in the time-stamp assignment. Fast ToT charge encoding up to 8-bit resolution can be retrieved at the pixel level exploiting a high-frequency self-generated clock signal. This is obtained by turning the latch into a voltage-controlled oscillator (VCO) using asynchronous logic. Pixel-to-pixel threshold variations are compensated by means of an autozeroed scheme, thus avoiding the need of a on-pixel D/A converter. An array of 8 × 8 cells with 50 μm × 50 μm pixel size has been prototyped. Design specifications, implementation and test results are discussed.
Regional impact of field strength on voxel‐based morphometry results

The objective of this study was to characterize the sensitivity of voxel‐based morphometry (VBM) results to choice field strength. We chose to investigate the two most widespread acquisition sequences for VBM, FLASH and MP‐RAGE, at 1.5 and 3 T. We first evaluated image quality of the four acquisition protocols in terms of SNR and image uniformity. We then performed a VBM study on eight subjects scanned twice using the four protocols to evaluate differences in grey matter (GM) density and corresponding scan‐rescan variability, and a power analysis for each protocol in the context a longitudinal and cross‐sectional VBM study. As expected, the SNR increased significantly at 3 T for both FLASH and MP‐RAGE. Image non‐uniformity increased as well, in particular for MP‐RAGE. The differences in CNR and contrast non‐uniformity cause regional biases between protocols in the VBM results, in particular between sequences at 3 T. The power analysis results show an overall decrease in the number of subjects required in a longitudinal study to detect a difference in GM density at 3 T for MP‐RAGE, but an increase for FLASH. The number of subjects required in a cross‐sectional VBM study is higher at 3 T for both sequences. Our results show that each protocol has a distinct regional sensitivity pattern to morphometric change, which goes against the classical view of VBM as an unbiased whole brain analysis technique, complicates the combination of data within a VBM study and the direct comparison of VBM studies based on different protocols. Hum Brain Mapp, 2010. © 2009 Wiley‐Liss, Inc.
Parenting and Child Mental Health: The Role of Openness in Internationally Adoptive Families

This study examined the relationships among parenting behaviors, communicative openness, and child mental health in a sample of 67 two-parent, internationally adoptive families. Four hypotheses were tested: (1) parenting quality would be negatively related to child mental health problems; (2) parenting quality would be positively related to child openness during adoptionrelated conversations; (3) child openness would be negatively related to child mental health problems; and (4) the association between parenting quality and child mental health problems would be mediated by child openness. Certain parenting behaviors significantly predicted both child mental health problems and openness, but mediation was not supported. These findings should be considered in the development of resources for internationally adoptive parents aimed at promoting child mental health.
Randomized controlled trial of electro-acupuncture for autism spectrum disorder.

OBJECTIVE To study the efficacy, safety, and compliance of short-term electro-acupuncture for children with autism spectrum disorder (ASD). DESIGN Randomized, double-blind, sham-controlled, clinical trial. SUBJECTS AND METHODS Children with ASD were randomly assigned to an electro-acupuncture (EA) group (n=30) or a sham electro-acupuncture (SEA) group (n=25) matched by age and severity of autism. The EA group received electro-acupuncture for selected acupoints while the SEA group received sham electro-acupuncture to sham acupoints. A total of 12 EA and SEA sessions over four weeks were given. Primary outcome measures included Functional Independence Measure for Children (WeeFIM), Pediatric Evaluation of Disability Inventory (PEDI), Leiter International Performance Scale-Revised (Leiter-R), and Clinical Global Impression-Improvement (CGI-I) scale. Secondary outcome measures consisted of Aberrant Behavior Checklist (ABC), Ritvo-Freeman Real Life Scale (RFRLS), Reynell Developmental Language Scale (RDLS), and a standardized parental report. Data were analyzed by the Mann-Whitney test. RESULTS There were significant improvements in the language comprehension domain of WeeFIM (p=0.02), self-care caregiver assistant domain of PEDI (p=0.028), and CGI-I (p=0.003) in the EA group compared to the SEA group. As for the parental report, the EA group also showed significantly better social initiation (p=0.01), receptive language (p=0.006), motor skills (p=0.034), coordination (p=0.07), and attention span (p=0.003). More than 70 percent of children with ASD adapted to acupuncture easily, while eight percent had poor acupuncture compliance. Mild side effects of minor superficial bleeding or irritability during acupuncture were observed. CONCLUSION A short, four-week (12 sessions) course of electro-acupuncture is useful to improve specific functions in children with ASD, especially for language comprehension and self-care ability.
The Emotion Comprehension Test: Selected psychometric properties of a new measure of emotion understanding for preschoolers

Title of Thesis: THE EMOTION COMPREHENSTION TEST: SELECTED PSYCHOMETRIC PROPTERTIES OF A NEW MEASURE OF EMOTION UNDERSTANDING FOR PRESCHOOLERS Emily Anne Gustafson, Master of Arts, 2009 Directed By: Professor Hedwig Teglasi, Department of Counseling and Personnel Services This study examines the psychometric properties, including internal consistency and item difficulty of a new measure of emotion understanding through quantitative analysis. Intercorrelations between the three subtest of the measure, correlations with age and gender, and response patterns were also examined. Emotion understanding is the ability to identify the emotions of others from facial expressions and behaviors and to understand what emotions are likely to be elicited by common social situations. Emotion understanding begins to emerge in the preschool years and serves as the foundation for social competence. The Emotion Comprehension Test (ECT) is a new measure of emotion understanding for preschoolers, which uses photographs of real children to depict natural emotional facial expressions to assess emotion identification. The measure also uses puppets to act out social situations associated with common emotions and behaviors associated with emotions. Internal consistency of the three subtests were found to be r = . 699 for the Emotion Identification subtest, r = . 805 for the Emotion – Situations subtest, and r = . 614 for the Emotion – Behaviors subtest. THE EMOTION COMPREHENSTION TEST: SELECTED PSYCHOMETRIC PROPTERTIES OF A NEW MEASURE OF EMOTION UNDERSTANDING FOR PRESCHOOLERS
Risk modification by CYP1A1 and GSTM1 polymorphisms in the association of cigarette smoking and systemic lupus erythematosus in a Japanese population

Objectives: Exposure to reactive oxygen species (ROS) through cigarette smoking is thought to contribute to the development of systemic lupus erythematosus (SLE). Metabolic enzymes are involved in ROS production. The aim of this study was to evaluate the modifying effect of metabolic polymorphisms on the association of cigarette smoking with SLE risk in a Japanese population. Methods: We investigated the relationship of the cytochrome P450 (CYP) 1A1 rs4646903 and glutathione S-transferase (GST) M1 deletion polymorphisms to SLE risk with attention to interaction with cigarette smoking among 151 SLE cases and 421 controls in female Japanese subjects. Unconditional logistic regression was used to compute the odds ratios (ORs) and their 95% confidence intervals (CIs), with adjustments for several covariates. Results: Smokers with the CC genotype of CYP1A1 rs4646903 were significantly associated with increased risk of SLE (OR 9.72, 95% CI 2.73–34.6). Similarly, smokers with the combined CYP1A1 rs4646903/GSTM1 ‘at-risk’ genotype were significantly associated with increased risk of SLE (OR 17.5, 95% CI 3.20–95.9). More than 60% of the excess risk for SLE in smokers with the CC genotype and smokers with the combined ‘at-risk’ genotype was due to an additive interaction. A lack of association of the GSTM1 genotypes with smoking was observed. Conclusions: Our results suggest that a combination of smoking and either the CYP1A1 rs4646903 genotype or the combined metabolic genotype plays an important role in SLE susceptibility in our Japanese population. Additional studies are warranted to confirm the metabolic polymorphism–smoking interaction suggested in the present study.
Critical Period Plasticity of Axonal Arbors of Layer 2/3 Pyramidal Neurons in Rat Somatosensory Cortex: Layer-Specific Reduction of Projections into Deprived Cortical Columns

We examined the effect of whisker trimming during early postnatal development on the morphology of axonal arbors in rat somatosensory cortex. Axonal arbors from populations of layer 2/3 pyramidal neurons in the D2 column were labeled by lentivirus-mediated expression of green fluorescent protein. Axonal projection patterns were compared between untrimmed control animals and animals with all whiskers in A-, B-, and C-rows trimmed (D- and E-rows left intact) from postnatal days 7 to 15 (termed from here on DE-pairing). Control animals had approximately symmetrical horizontal projections toward C- and E-row columns in both supra- and infragranular layers. Following DE-pairing, the density of axons in supragranular layers projecting from the labeled neurons in the D2 column was higher in E- than in C-row columns. This asymmetry resulted primarily from a reduction in projection density toward the deprived C-row columns. In contrast, no change was observed in infragranular layers. The results indicate that DE-pairing during early postnatal development results in reduced axonal projection from nondeprived into deprived columns and that cortical neurons are capable of structural rearrangements at subsets of their axonal arbors.
FOXO3 Regulates CD8 T Cell Memory by T Cell-Intrinsic Mechanisms

CD8 T cell responses have three phases: expansion, contraction, and memory. Dynamic alterations in proliferation and apoptotic rates control CD8 T cell numbers at each phase, which in turn dictate the magnitude of CD8 T cell memory. Identification of signaling pathways that control CD8 T cell memory is incomplete. The PI3K/Akt signaling pathway controls cell growth in many cell types by modulating the activity of FOXO transcription factors. But the role of FOXOs in regulating CD8 T cell memory remains unknown. We show that phosphorylation of Akt, FOXO and mTOR in CD8 T cells occurs in a dynamic fashion in vivo during an acute viral infection. To elucidate the potentially dynamic role for FOXO3 in regulating homeostasis of activated CD8 T cells in lymphoid and non-lymphoid organs, we infected global and T cell-specific FOXO3-deficient mice with Lymphocytic Choriomeningitis Virus (LCMV). We found that FOXO3 deficiency induced a marked increase in the expansion of effector CD8 T cells, preferentially in the spleen, by T cell-intrinsic mechanisms. Mechanistically, the enhanced accumulation of proliferating CD8 T cells in FOXO3-deficient mice was not attributed to an augmented rate of cell division, but instead was linked to a reduction in cellular apoptosis. These data suggested that FOXO3 might inhibit accumulation of growth factor-deprived proliferating CD8 T cells by reducing their viability. By virtue of greater accumulation of memory precursor effector cells during expansion, the numbers of memory CD8 T cells were strikingly increased in the spleens of both global and T cell-specific FOXO3-deficient mice. The augmented CD8 T cell memory was durable, and FOXO3 deficiency did not perturb any of the qualitative attributes of memory T cells. In summary, we have identified FOXO3 as a critical regulator of CD8 T cell memory, and therapeutic modulation of FOXO3 might enhance vaccine-induced protective immunity against intracellular pathogens.
Beyond the Ownership of Handheld Devices: Active Learning with Ubiquitous Learning Minds

Whether mobile and ubiquitous learning becomes a substantial learning scenario depends on how the mobile and ubiquitous technologies facilitate new learning demand in the future. The ownership of devices and the mobility of the personally-owned devices are not the only critical issues as computational power becomes universally available. The rapidly changing world creates new challenges for learners beyond learning existing knowledge. It requires learners live and learn with an active learning mind that promotes personal autonomy, social collaboration and intelligence as well as epistemic pluralism in order to create innovation with the aid of technologies. Transformative pedagogies and environment are required to facilitate the cultivation of such learning mind. Encouraging contribution, technology adoption, social intelligence and socially promotive collaboration become the critical issues when learners are augmented with distributed learning minds through mobile and ubiquitous technologies.