Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel Case of Live Born with 49, XXXY, + 10 Karyotype: Implications of Autosomal Trisomies Other Than 13, 18 and 21

Abstract Trisomy occurs in at least 4% of pregnancies and is the most common chromosomal abnormality seen in humans. Double trisomies are extremely rare, and most of them involve the sex chromosomes combined with either trisomy 13, 18 or 21. We have identified a novel case with 49, XXXY, +10 karyotype. A ten-month-old boy, with delayed developmental milestones was referred for cytogenetic evaluation. The child was 3rd in birth order delivered vaginally to a consanguineous couple at full term. At birth the only phenotypic abnormalities noticed were low set ears and wide spaced eyes. A suspicion of some abnormality arose when the child failed to attain head holding by 5 months. On detailed evaluation at presentation features observed included short stature, bilateral undescended testis with phallic length of 12mm, the respiratory system had bilateral crepts with wheeze, hepatosplenomegaly was present and D/Q assessment gave a developmental age of 5 months. There was no evidence of mosaicism as all the metaphases analyzed had 49 chromosomes and the buccal epithelium showed cells with a double sex chromatin body. Parental karyotypes were normal and the age of the father and mother were 30 and 25 years respectively, ruling out advanced maternal age as a cause for non-disjunction. No other identifiable factor responsible for inducing double trisomy could be identified, hence the origin of this karyotype is an enigma. The mild phenotypic dysmorphisms seen in this child is surprising and he represents a novel case of a survivor with double trisomy involving sex chromosomes and chromosome 10.
Botulinum toxin type-A (BoNTA) and dynamic wrist-hand orthoses versus orthoses alone for the treatment of spastic-paretic upper extremity in chronic stroke patients

Purpose: The purpose of this study was to investigate the potential functional improvement of the spastic-paretic upper extremity of individuals with chronic hemiparesis when using a dynamic wrist-hand orthosis with and without concurrent botulinum toxin type-A (BoNTA) injections into the spastic upper extremity muscles. Methods: A three-year retrospective chart review was conducted on all stroke patients referred to out-patient occupational therapy for an upper extremity rehabilitation program, which included use of a dynamic wrist-hand orthosis (DWHO). Three charts documented concurrent treatment with a DWHO + BoNTA. Eleven charts documented DWHO use without concurrent BoNTA treatment. Pre- and post-intervention outcome measure scores were compared between the two groups. Pre- and post-interven- tion scores were also analyzed irrespective of treatment group. Results: Although improvement approached significance on three of the documented outcome measures when comparing the DWHO + BoNTA and DWHO groups, no statistically significant changes were found. A significant difference (p < 0.05) however, was found between the pre- and post-intervention scores irrespective of treatment group in 13 of 14 of the outcome measures documented. Conclusions: Further research with a larger sample size is suggested to assess the combined effect of using a dynamic wrist-hand orthosis and BoNTA injections into the spastic upper extremity muscles of individuals with chronic hemiparesis post stroke.
Estándares básicos de calidad

Cree usted que la formulacion de estandares les ayuda a los maestros a generar una mejor relacion pedagogica con los estudiantes? Entiendo la "mejor relacion pedagogica entre maestro y estudiantes" como una en la que el aprendizaje verdaderamente ocurra, en ambientes que realmente lo fomenten y que no desvirtuen la naturaleza del conocimiento cientifico, convirtiendolo en verdad revelada que se debe conocer y, de golpe, memorizar. La "mejor relacion pedagogica", entonces, debe darse entre es.
Fast and robust selection of highly-correlated features in regression problems

Feature selection for regression problems can be highly beneficial in terms of robustness and execution speed. The Correlation-based Feature Selection (CFS) algorithm, in the attempt to find the best feature subset, evaluates different subsets and selects the one with the highest “goodness”. Such goodness is based on the co-relation between the addition of all features in the subset with the output variable. However, such a simple addition assumes that all features have the same weight in the output variable. This, in turn, assumes that all features are uncorrelated with each other. By considering an optimal weighting instead, a more robust measurement of the goodness can be obtained; however, such weighting is computationally expensive. In this paper, a feature selection algorithm named “R-fast” which considers the β coefficients in the standardized linear regression model as optimal weights is proposed. We also present a technique to quickly estimate approximations to the β coefficients. Our algorithm was evaluated using Multiple Regression Analysis (MRA) over 8 synthetic and 10 real-world datasets. Results show that, when selecting features with our proposed algorithm, MRA's performance is better than or equal to those obtained when selecting features with others well-known filter algorithms and when no selection is performed.
Correlation, Causation and Wright's Theory of "Path Coefficients".

INTRODUCTION. 258 The method of path coefficients. 261 The mathematics of path coefficients. 263 WRIGHT’S guinea-pig example. 263 Test of WRIGET’S method. 264 Example 1. 268 Example 2. 279 CONCLUSION. 272 LITERATURE CITED. 273
Compact Route Computation: Improving Parallel BGP Route Processing for Scalable Routers

Nowadays Internet routers are overwhelmed by a large quantity of BGP (Border Gateway Protocol) updates triggered by route changes. The fast growth of the Internet size further aggravates router workloads and exacerbates routing convergence performance. Scalable routers, such as cluster routers and For CES, are proposed to exploit distributed control plane (DCP) with multiple control elements (CEs) to scale route processing capacity. Previous studies show that most route updates are duplicated in the Internet. Traditional parallel computation schemes only consider calculating route in parallel but most routes are computed in vain since they will not be finally selected. This paper proposes a simple and novel idea of compact route computation (CRC) to reduce BGP route processing load and improve routing convergence performance. Our scheme partitions Adj-RIBs-in among multiple CEs in the granularity of prefixes, which makes non-consecutive updates for a prefix queued adjacently in distributed control plane. Route computations triggered by a prefix's consecutive updates are compacted into one. We evaluate our scheme by simulations with real BGP update data, and results show that our scheme is very effective to reduce route computation workloads. For example, for a scalable router with 4 CEs and the updates received from 24 neighbors, our scheme reduces 60% route computation load. It can distinctly reduce route computation load with more CEs.
Nonsmooth Equations in Optimization: "Regularity, Calculus, Methods And Applications"

Introduction. List of Results. Basic Notation. 1. Basic Concepts. 2. Regularity and Consequences. 3. Characterizations of Regularity by Derivatives. 4. Nonlinear Variations and Implicit Functions. 5. Closed Mappings in Finite Dimension. 6. Analysis of Generalized Derivatives. 7. Critical Points and Generalized Kojima-Functions. 8. Parametric Optimization Problems. 9. Derivatives and Regularity of Further Nonsmooth Maps. 10. Newton's Method for Lipschitz Equations. 11. Particular Newton Realizations and Solution Methods. 12. Basic Examples and Exercises. Appendix. Bibliography. Index.
Collectin-mediated antiviral host defense of the lung: evidence from influenza virus infection of mice

Collagenous lectins (collectins) present in mammalian serum and pulmonary fluids bind to influenza virus and display antiviral activity in vitro, but their role in vivo has yet to be determined. We have used early and late isolates of H3N2 subtype influenza viruses that differ in their degree of glycosylation to examine the relationship between sensitivity to murine serum and pulmonary lectins in vitro and the ability of a virus to replicate in the respiratory tract of mice. A marked inverse correlation was found between these two parameters. Early H3 isolates (1968 to 1972) bear 7 potential glycosylation sites on hemagglutinin (HA), whereas later strains carry 9 or 10. Late isolates were shown to be much more sensitive than early strains to neutralization by the mouse serum mannose-binding lectin (MBL) and rat lung surfactant protein D (SP-D) and bound greater levels of these lectins in enzyme-linked immunosorbent assays and Western blot analyses. They also replicated very poorly in mouse lungs compared to the earlier strains. Growth in the lungs was greatly enhanced, however, if saccharide inhibitors of the collectins were included in the virus inoculum. The level of SP-D in bronchoalveolar lavage fluids increased on influenza virus infection. MBL was absent from lavage fluids of normal mice but could be detected in fluids from mice 3 days after infection with the virulent strain A/PR/8/34 (H1N1). The results implicate SP-D and possibly MBL as important components of the innate defense of the respiratory tract against influenza virus and indicate that the degree or pattern of glycosylation of a virus can be an important factor in its virulence.
Parallelization of SAT Algorithms on GPU

The Boolean Satisfiability (SAT) problem is one of the most important NP-complete problems. However, during recent years, the performance of SAT Solvers has started to stagnate. This lead to efforts being done to parallelize SAT solvers for them to use multi-core systems. Meanwhile, GPUs became available for general programming. However, only recently there have been efforts to use them to solve SAT. Nevertheless, these techniques misuse the GPU and limit its applicability. This happens because they use the scalability of the GPU in order to be able to accommodate larger problems. However, when problems gain certain proportions, the GPU can not handle them anymore. In this thesis we present a novel approach to use the GPU that, by carefully selecting the work to be performed, allows it to do, with few computing resources, what took others the entire GPU. This approach lets us have a portfolio of search threads, which can scale better and enables the GPU to solve problems of any size, which was not possible before with GPU-enabled solvers.
The histographic analysis of human muscle biopsies with regard to fiber types

Histograms were constructed of each biopsy, using the techniques previously described. ’ The only modification was that the magnification used for taking the photographs from which histograms were made was altered in some cases. Magnifications of 2 0 0 ~ and 4 0 0 ~ were used when the standard 100 x -magnification was insufficient to produce a photograph containing about 200 fibers in an area of about 12 sq. in. Histograms were plotted independently for each of the two main fiber types. There was only one criterion for including a patient in the study and that was that the patient was 15 years of age or less. There were many different disease categories and many patients with diseases that did not fall into a clear-cut diagnostic category. Thus, to present the results by classifying the patients under disease categories would be a confusing and cumbersome approach. All of the 180 biopsies fell into one of five clear-cut histographic types. The patients are therefore presented according to the histographic appearance of their biopsies. These groups are de6ned more exactly below, but they may be summarized as [ l ] biopsies with fiber types I and I1 of equal size and apparently normal variability, 121 biopsies with type I1 fibers smaller than type I, [3] biopsies with type I fibers smaller than type 11, 141 biopsies with a twin-peaked histogram of one or both fiber types, and [5] biopsies with an abnormal variability in the size of individual fibers not fitting into one of the other groups.
Running over rough terrain reveals limb control for intrinsic stability

Legged animals routinely negotiate rough, unpredictable terrain with agility and stability that outmatches any human-built machine. Yet, we know surprisingly little about how animals accomplish this. Current knowledge is largely limited to studies of steady movement. These studies have revealed fundamental mechanisms used by terrestrial animals for steady locomotion. However, it is unclear whether these models provide an appropriate framework for the neuromuscular and mechanical strategies used to achieve dynamic stability over rough terrain. Perturbation experiments shed light on this issue, revealing the interplay between mechanics and neuromuscular control. We measured limb mechanics of helmeted guinea fowl (Numida meleagris) running over an unexpected drop in terrain, comparing their response to predictions of the mass–spring running model. Adjustment of limb contact angle explains 80% of the variation in stance-phase limb loading following the perturbation. Surprisingly, although limb stiffness varies dramatically, it does not influence the response. This result agrees with a mass–spring model, although it differs from previous findings on humans running over surfaces of varying compliance. However, guinea fowl sometimes deviate from mass–spring dynamics through posture-dependent work performance of the limb, leading to substantial energy absorption following the perturbation. This posture-dependent actuation allows the animal to absorb energy and maintain desired velocity on a sudden substrate drop. Thus, posture-dependent work performance of the limb provides inherent velocity control over rough terrain. These findings highlight how simple mechanical models extend to unsteady conditions, providing fundamental insights into neuromuscular control of movement and the design of dynamically stable legged robots and prosthetic devices.
Maternal and perinatal complications by day of gestation after spontaneous labor at 40–42 weeks of gestation

Objective. To evaluate pregnancy outcome after spontaneous labor by day of gestation between 40+0 and 41+6 weeks of gestation. Design. Evaluation of prospectively collected labor ward data. Setting. University Hospital, Denmark. Population. Unselected consecutive cohort of 14 678 spontaneously starting deliveries between 280 and 293 days of gestation during the years 2000–2006. Methods. Data were registered in a computer program after each delivery by a midwife and the entries further evaluated by a specialist in obstetrics. Complication rates were compared using Fisher's exact test. Main Outcome Measures. Maternal complication rates for each gestation day, including cesarean delivery, maternal blood transfusion, episiotomy, operative vaginal delivery, third and fourth degree perineal lacerations and perinatal morbidity. Results. The cesarean delivery rate increased from 6% on day 280 to 11% on day 293. Cesarean delivery increased from 40 to 41 weeks gestation (7.3 vs. 9.5%, p<0.005), as did maternal transfusion (0.5 vs. 1.2%, p<0.001) and cesarean section on the indication fetal distress (1.5 versus 2.4%, p<0.005), but perineal lacerations did not. Likewise, there was an increase in episiotomy rates (3.0 vs. 3.5%, p=0.08), operative vaginal delivery (5.8 vs. 6.5%, p=0.07) and admission to neonatal intensive care (1.4 versus 2.0%, p=0.009), but no increase in 5 minute Apgar scores <7 or low umbilical artery acid–base values. Conclusions. Deliveries starting spontaneously in an unselected cohort showed an increase in maternal complications, meconium‐stained amniotic fluid and admission to the neonatal intensive care unit.
Single quantum dot controls a plasmonic cavity’s scattering and anisotropy

Significance We experimentally demonstrate that a single semiconductor quantum dot placed in close proximity to a plasmonic cavity (i.e., a spherical metallic nanoparticle) can be used to control the scattering spectrum and anisotropy of the latter. The scattering spectrum of the hybrid structure features a Fano resonance mediated by single photon absorption/scattering. This result is highly counterintuitive because the scattering cross sections of these two nanoparticles differ by four orders of magnitude. Our work represents a critical step toward realizing quantum plasmonic nanostructures that are capable of producing scattered light, which, depending on its polarization state, obeys either quantum or classical statistics. Furthermore, our work enables a hybrid orientation sensor unaffected by photobleaching of quantum dots. Plasmonic cavities represent a promising platform for controlling light–matter interaction due to their exceptionally small mode volume and high density of photonic states. Using plasmonic cavities for enhancing light’s coupling to individual two-level systems, such as single semiconductor quantum dots (QD), is particularly desirable for exploring cavity quantum electrodynamic (QED) effects and using them in quantum information applications. The lack of experimental progress in this area is in part due to the difficulty of precisely placing a QD within nanometers of the plasmonic cavity. Here, we study the simplest plasmonic cavity in the form of a spherical metallic nanoparticle (MNP). By controllably positioning a semiconductor QD in the close proximity of the MNP cavity via atomic force microscope (AFM) manipulation, the scattering spectrum of the MNP is dramatically modified due to Fano interference between the classical plasmonic resonance of the MNP and the quantized exciton resonance in the QD. Moreover, our experiment demonstrates that a single two-level system can render a spherical MNP strongly anisotropic. These findings represent an important step toward realizing quantum plasmonic devices.
Is poor sleep quality at high altitude separate from acute mountain sickness? Factor structure and internal consistency of the Lake Louise Score Questionnaire.

BACKGROUND The factor structure and internal consistency of the Lake Louise Score Questionnaire (LLSQ) have not been determined in a large population at high altitude; however, a single-factor structure and a high internal consistency are preferable for accurate clinical and research applications of the LLSQ. METHODS A large group of Nepalese pilgrims (n=491) were assessed for acute mountain sickness with a verbal Nepali translation of the LLSQ after rapidly ascending from 1950 m to 4380 m. The factor structure and internal consistency of the LLSQ were determined with a confirmatory factor analysis (CFA) and the ordinal alpha coefficient, respectively. RESULTS A one-factor structure with all five items of the LLSQ was accepted. Four items (headache, gastrointestinal upset, fatigue/weakness, and dizziness/lightheadedness) loaded strongly on this factor (>0.70), but sleep quality had a low factor loading (0.33). The internal consistency (ordinal alpha coefficient) was 0.79, but removing the sleep quality item improved this value to 0.84. CONCLUSIONS The sleep quality item of the LLSQ was weakly related to the other items of the LLSQ. Future research should further investigate whether impaired sleep at altitude should be considered separately from other symptoms of AMS.
Genetics of Erwinia species.

INTRODUCTION AND SCOPE . 646 TAXONOMIC CONSIDERATIONS . , 647 PLASMID INHERITANCE . 649 Foreign 1'Iasmids . 649 Resident Plasmids , , . , , . , 650 BACTERIOPHAGES . 651 GENETIC SYSTEMS . 652 Conjugation . , , 652 Hfr donors . ,. , , 652 R plasmid·mediated chromosomal gene transfer 653 Transduction ,. 655 Transformation . 656 CHROMOSOMAL HOMOLOGY . 656 DETERMINANTS OF BACTERIAL PHyTOPATHOGENICITy . 658 Cell Envelope Components 658 Capsule . 659 Lipopolysaccharide and outer membrane proteins . 660 Amylovo/'in 662 Extracellular Enzymes 664 Polygalacturonic Acid Catabolism 665 Location of pectolytie activity , , , . , 666 Regulation of PATE production . 666 Mapping of the pot locus . 668 Degradation of o/igouronides and catabolism of monomeric derivatives 670 PROSPEct'S ,. 671
A Major Genetic Locus in Trypanosoma brucei Is a Determinant of Host Pathology

The progression and variation of pathology during infections can be due to components from both host or pathogen, and/or the interaction between them. The influence of host genetic variation on disease pathology during infections with trypanosomes has been well studied in recent years, but the role of parasite genetic variation has not been extensively studied. We have shown that there is parasite strain-specific variation in the level of splenomegaly and hepatomegaly in infected mice and used a forward genetic approach to identify the parasite loci that determine this variation. This approach allowed us to dissect and identify the parasite loci that determine the complex phenotypes induced by infection. Using the available trypanosome genetic map, a major quantitative trait locus (QTL) was identified on T. brucei chromosome 3 (LOD = 7.2) that accounted for approximately two thirds of the variance observed in each of two correlated phenotypes, splenomegaly and hepatomegaly, in the infected mice (named TbOrg1). In addition, a second locus was identified that contributed to splenomegaly, hepatomegaly and reticulocytosis (TbOrg2). This is the first use of quantitative trait locus mapping in a diploid protozoan and shows that there are trypanosome genes that directly contribute to the progression of pathology during infections and, therefore, that parasite genetic variation can be a critical factor in disease outcome. The identification of parasite loci is a first step towards identifying the genes that are responsible for these important traits and shows the power of genetic analysis as a tool for dissecting complex quantitative phenotypic traits.
Health Service Utilization for Mental, Behavioural and Emotional Problems among Conflict-Affected Population in Georgia: A Cross-Sectional Study

Background There is large gap in mental illness treatment globally and potentially especially so in war-affected populations. The study aim was to examine health care utilization patterns for mental, behavioural and emotional problems among the war-affected adult population in the Republic of Georgia. Methods A cross-sectional household survey was conducted among 3600 adults affected by 1990s and 2008 armed conflicts in Georgia. Service use was measured for the last 12 months for any mental, emotional or behavioural problems. TSQ, PHQ-9 and GAD-7 were used to measure current symptoms of PTSD, depression and anxiety. Descriptive and regression analyses were used. Results Respondents were predominantly female (65.0%), 35.8% were unemployed, and 56.0% covered by the government insurance scheme. From the total sample, 30.5% had symptoms of at least one current mental disorder. Among them, 39.0% sought care for mental problems, while 33.1% expressed facing barriers to accessing care and so did not seek care. General practitioners (29%) and neurologists (26%) were consulted by the majority of those with a current mental disorder who accessed services, while use of psychiatric services was far more limited. Pharmacotherapy was the predominant type of care (90%). Female gender (OR 1.50, 95% CI: 1.25, 1.80), middle-age (OR 1.83, 95% CI: 1.48, 2.26) and older-age (OR 1.62, 95% CI: 1.19, 2.21), possession of the state insurance coverage (OR 1.55, 95% CI: 1.30, 1.86), current PTSD symptoms (OR 1.56, 95% CI: 1.29, 1.90) and depression (OR 2.12, 95% CI: 1.70, 2.65) were associated with higher rates of health service utilization, while employed were less likely to use services (OR 0.71, 95% CI: 0.55, 0.89). Conclusions Reducing financial access barriers and increasing awareness and access to local care required to help reduce the burden of mental disorders among conflict-affected persons in Georgia.