LLukas22/scidocs huggingface dataset:
Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, yet. We obtained clinical, cytogenetic and molecular data in 63 patients with an interstitial 13q deletion involving RB1. Whole-genome array analysis or customized high-resolution array analysis for 13q14.11q14.3 was performed in 38 patients, and cytogenetic analysis was performed in 54 patients. Deletion sizes ranged between 4.2 kb and more than 33.43 Mb; breakpoints were non-recurrent. Sequence analysis of deletion junctions in five patients revealed microhomology and insertion of 2–34 base pairs suggestive of non-homologous end joining. Milder phenotypic expression of retinoblastoma was observed in patients with deletions larger than 1 Mb, which contained the MED4 gene. Clinical features were compared between patients with small (within 13q14), medium (within 13q12.3q21.2) and large (within 13q12q31.2) deletions. Patients with a small deletion can show macrocephaly, tall stature, obesity, motor and/or speech delay. Patients with a medium deletion show characteristic facial features, mild to moderate psychomotor delay, short stature and microcephaly. Patients with a large deletion have characteristic craniofacial dysmorphism, short stature, microcephaly, mild to severe psychomotor delay, hypotonia, constipation and feeding problems. Additional features included deafness, seizures and brain and heart anomalies. We found no correlation between clinical features and parental origin of the deletion. Our data suggest that hemizygous loss of NUFIP1 and PCDH8 may contribute to psychomotor delay, deletion of MTLR1 to microcephaly and loss of EDNRB to feeding difficulties and deafness.
Scheduling and feedback co-design for networked control systems

Feedback control systems wherein the control loops are closed through a real-time network are called networked control systems (NCSs). The insertion of the communication network in the feedback control loop makes the analysis and design of an NCS complex. Driving our research effort into NCSs is the point of view that the design of both the communication protocols and the interacting controlled system should not be treated as separate. In the co-design approach we propose, network issues such as bandwidth, quantization, survivability, reliability and message delay will be considered simultaneously with controlled system issues such as stability, performance, fault tolerance and adaptability. Thus, we study network scheduling when a set of NCSs are connected to the network and arbitrating for network bandwidth. We first define the basic concepts of network scheduling in NCSs. Then, we apply the rate monotonic scheduling algorithm to schedule a set of NCSs. We also formulate the optimal scheduling problem under both rate-monotonic-schedulability constraints and NCS-stability constraints, and give an example of how such optimization is carried out. Next, the assumptions of ideal transmission are relaxed: we study the above network scheduling problem with network-induced delay, packet dropouts, and multiple-packet transmissions taken into account.
Evolving self-adaptive services using planning-based reflective middleware

Self-adaptive systems often use a middleware-based approach where adaptation mechanisms and policies are separated and externalized from the application code. Such separation facilitates the independent analysis of application and adaptation. In the QuA middle-ware, we use mirror-based reflection and service planning to support the development and execution of self-adaptive systems. A mirror provides meta information about a service's behavior and implementation throughout all life-cycle phases, including its performance in different contexts. Service planning supports dynamic discovery, utility-based and context-aware evaluation, and selection of alternative implementations of a given service.Here we argue that the QuA middleware is also able to support certain forms of evolution of adaptive systems. Since in QuA new implementation alternatives or updated versions of software are automatically discovered and considered during service planning, evolution both during run time and load time is supported. Experimental results from evolving a state-of-the-art adaptive media streaming application using our middleware are also presented.
Single-phase heat transfer in microchannels The importance of scaling effects

Microscale single-phase heat transfer is widely used in industrial and scientific applications and for this reason, many related papers have been published in the last two decades. Nevertheless, inconsistencies between published results still exist and there is no generally accepted model for the prediction of singlephase heat transfer in microchannels. This paper presents a review of the experimental and numerical results available in the open literature. Heat transfer in microchannels can be suitably described by standard theory and correlations, but scaling effects (entrance effects, conjugate heat transfer, viscous heating, electric double layer (EDL) effects, temperature dependent properties, surface roughness, rarefaction and compressibility effects), often negligible in macro-channels, may now have a significant influence and have to be accounted for. Furthermore, measurement uncertainties may be more important, due to the reduced characteristic dimensions, so have to be accurately checked and, where possible, reduced. Experiments with single channels are more accurate and in good agreement with predictions from published correlations, in contrast to multi-(parallel) channel experiments. The latter are subject to maldistribution, 3D conjugate heat transfer effects and larger measurement uncertainties. Sub-continuum mathematical models for fluid dynamics are briefly reviewed and explained. These models are expected to gain a growing interest in the near future due to the rapid descent of microchannel dimensions down to the nano-scale. The paper concludes with a concise set of recommendations for purposes of performance and design. For single channels, available correlations for macro-channels can also give reliable predictions at the micro-scale, but only if all the scaling effects can be considered negligible. Otherwise, when scaling effects cannot be neglected or for the case of heat exchangers with parallel channels, suitable numerical simulations may be the sole alternative to carefully designed experiments to evaluate the heat transfer rates.
Small-group, interactive education and the effect on asthma control by children and their families.

BACKGROUND
Effective approaches to education about asthma need to be identified. We evaluated the impact on asthma control by children and their caregivers of an intervention involving small-group, interactive education about asthma.


METHODS
We randomly assigned children who visited an emergency department for an exacerbation of asthma (n = 398) to either of 2 groups. Children assigned to the control group followed the usual care recommended by their primary care physician. Those assigned to the intervention group participated in a small-group, interactive program of education about asthma. We examined changes in the number of visits to the emergency department during the year after the intervention.


RESULTS
During the year after enrolment, children in the intervention group made significantly fewer visits to the emergency department (0.45 visits per child) compared with those in the control group (0.75 visits per child) (p = 0.004). The likelihood of a child in the intervention group requiring emergency care was reduced by 38% (relative risk [RR] 0.62, 95% confidence interval CI 0.48-0.81, p = 0.004). Fewer courses of oral corticosteroids (0.63 per child) were required by children in the intervention group than by those in the control group (0.85 per child) (p = 0.006). We observed significant improvements in the symptom domain of the questionnaire on pediatric asthma quality-of-life (p = 0.03) and the activity domain of the questionnaire on caregivers' quality of life (p = 0.05). Parents of children in the intervention group missed less work because of their child's asthma after participating in the educational program (p = 0.04). No impact on hospital admissions was observed.


INTERPRETATION
Education about asthma, especially in a small-group, interactive format, improved clinically important outcomes and overall care of children with asthma.
Neural networks used for speech recognition

 Abstract— In this paper is presented an investigation of the speech recognition classification performance. This investigation on the speech recognition classification performance is performed using two standard neural networks structures as the classifier. The utilized standard neural network types include Feed-forward Neural Network (NN) with back propagation algorithm and a Radial Basis Functions Neural Networks.
Parallel evolutionary modelling of geological processes

This paper illustrates a parallel computing methodology for modelling and simulating geological processes by means of Cellular Automata and Parallel Genetic Algorithms. Two models, concerning lava and debris flows, have been implemented using the Cellular Automata development environment CAMELot, and calibrated by means of Genetic Algorithms through the PGAPack library. Experiments have been carried out on two different distributed memory machines, namely a Beowulf cluster and a HP Alphaserver SC supercomputer. Results have demonstrated the goodness of both considered geological models and of the genetic algorithm employed for their calibration. High computational performances have been achieved. In particular, results obtained for the calibration phase demonstrated that even low-cost parallel machines can be fruitfully employed for the construction of reliable simulation models for geological processes. 2007 Elsevier B.V. All rights reserved.
A method to compute distance between two categorical values of same attribute in unsupervised learning for categorical data set

Computation of similarity between categorical data objects in unsupervised learning is an important data mining problem. We propose a method to compute distance between two attribute values of same attribute for unsupervised learning. This approach is based on the fact that similarity of two attribute values is dependent on their relationship with other attributes. Computational cost of this method is linear with respect to number of data objects in data set. To see the effectiveness of our proposed distance measure, we use proposed distance measure with K-mode clustering algorithm to cluster various categorical data sets. Significant improvement in clustering accuracy is observed as compared to clustering results obtained using traditional K-mode clustering algorithm. 2006 Elsevier B.V. All rights reserved.
Wideband slot and printed antennas

Novel designs of printed and slot antenna elements that support wideband applications for radar and wireless communication systems are presented in this paper. The common feature of these antenna elements is the dipole type shape while the feeding line is based on coplanar waveguide (CPW) or a microstrip line with a balun for phase correction. The two arms of the antennas may be placed on the same side of the substrate or on the opposite sides of the substrate with truncated ground plane. Several shapes of the antenna element are considered. Among these are the bow-tie, modified bow-tie, and lotus. Design procedure for the slot bow-tie antenna with a tuning stub is developed and verified for various frequency bands. In addition to presenting new antenna designs for wideband applications, multiple band-reconfigurable printed and slot antennas are also designed and experimental verifications at X-band are demonstrated for ideal switching configurations
Seismic Base Isolation for Buildings in Regions of Low to Moderate Seismicity: Practical Alternative Design

Although Dhaka city has experienced any moderate to large earthquakes in the past, some recent ground shakings are certainly indications of its earthquake source and vulnerability. In addition, microseismicity data also supports the existence of at least four earthquake source points in and around Dhaka. However, it is important to appropriately consider the seismic lateral load effect in structural design. A newly adopted technology of seismic design is to isolate the superstructure from the substructure with the use of a base isolator. This paper covers the design of base isolators for a building located in Dhaka, Bangladesh, along with its structural and economic feasibility. A time history is generated for Dhaka, adjusting peak ground acceleration as per seismic region from a nearby recorded earthquake. The response spectrum curve based on the site geology of Dhaka is also generated from this time history. Linear static as well as dynamic (time history and response spectrum) analyses have been carried out for both isolated and nonisolated buildings. Similar analyses have also been repeated for buildings with different heights but similar plan areas. The study reveals that for low-to medium-rise buildings, isolation can reduce seismic force along with some savings in structural cost of the building, though incorporating base isolators increase the overall price and installation cost. A meticulous review indicates that savings may be in the order of 5–10% of the total structural cost of the respective building. DOI: 10.1061/(ASCE)SC.1943-5576.0000093. © 2012 American Society of Civil Engineers. CE Database subject headings: Dynamic analysis; Damping; Response spectra; Hysteresis; Yield; Displacement; Seismic effects; Economic factors; Base isolation; Earthquakes; Buildings. Author keywords: Dynamic analysis; Lead rubber bearing; High damping rubber bearing; Response spectrum; Time history; Hysteresis; Yield force; Yield displacement; Seismic base isolator; Economic implication.
FLEXURAL PROPERTIES OF REINFORCED RECYCLED CONCRETE BEAMS

Flexural properties of reinforced recycled concrete (RRC) beams are investigated experimentally. Their parameters are water-cement ratio, type, combination of aggregates and usage of expansive additive. Flexural properties of RRC beams, i.e. cracking moment, maximum crack spacing, maximum crack width, deflection under serviceable load and plastic deflection are discussed. Experimental results indicate the mechanics-based possibility of utilizing recycled concrete for reinforced concrete structures under the proper design as well as within the proper limit of application.
Botulinum toxin type A treatment for contouring of the lower face.

BACKGROUND
Since type A botulinum toxin was first reported for the treatment of masseter muscle hypertrophy in 1994, there have been few reports about cosmetic indications for contouring procedures of the lower face with injection of botulinum toxin type A, and this procedure remains unpredictable.


OBJECTIVES
This study attempted a quantitative prospective analysis of reduction of masseter muscle hypertrophy after Botox injection, using ultrasound and computerized tomography (CT) scans to analyze the possible use of botulinum toxin type A as a contouring procedure for the lower face.


METHODS
Forty-five patients consented to the study and received a contouring procedure of the lower face from November 2001 to April 2002. Twenty five to 30 U of Botox per side was injected at five to six points into the prominent portions of the mandibular angle. Serial measurements were made of the thickness of the masseter muscle by ultrasound and CT before the injections and at 1 and 3 months thereafter. A quantitative analysis for the masseter thickness changes was performed on just one patient who underwent all ultrasound and CT scans. Statistical analysis of the masseter thickness change was by two-way and multiple comparison analysis. To evaluate clinical long-term effects, the patient's satisfaction with the procedure and any side effects after injections were monitored during 4 to 10 months of follow-up.


RESULTS
Among the total of 45 patients, 15 underwent the three ultrasound measurements, and 14 had the three CT measurements. With regard to quantitative analysis of the thickness change to the masseter on both sides of the face according to time points, this was gradually reduced by both the ultrasound and CT measurements during the first 3 months. By ultrasound, the maximum reduction in masseter thickness was seen 1 month after the injections, with a slight increase being observed at 3 months after injection. A continued reduction of masseteric muscle thickness was seen on the CT up to 3 months after injection. In terms of patient satisfaction for up to 10 months of follow-up, the results were as follows: very satisfied, 1; satisfied, 36; slight improvement, 3; no change or dissatisfied, 5. Main local side effects included masticatory difficulties, muscle aching at injection sites, and speech disturbance. However, these side effects were transitory, usually lasting from 1 to 4 weeks after the injections.


CONCLUSIONS
Preliminary results from this study suggest that an injection of Botox resulted in relatively satisfactory clinical effects, although there was only a short-term follow-up. It is suggested that the use of botulinum toxin type A for contouring of the lower face can be established as a simple, predictable, alternative facial contouring procedure without a prolonged recovery time.
ANALYZING TABLES OF STATISTICAL TESTS.

HOGENBOOM. 1986. Pollen selection in breeding glasshouse tomatoes for low energy conditions, pp. 125-130. In D. Mulcahy, G. Bergamini Mulcahy, and E. Ottaviano (eds.), Biotechnology and Ecology of Pollen. Springer-Verlag, N.Y. SARI-GORLA, M. C. FROVA, AND R. REDAELLI. 1986. Extent ofgene expression at the gametophytic phase in maize, pp. 27-32. In D. Mulcahy, G. Bergamini Mulcahy, and E. Ottaviano (eds.), Biotechnology and Ecology of Pollen. Springer-Verlag, N.Y. SEARCY, K., AND D. MULCAHY. 1986. Gametophytic expression of heavy metal tolerance, pp. 159-164. In D. Mulcahy, G. Bergamini Mulcahy, and E. Ottaviano (eds.), Biotechnology and Ecology of Pollen. Springer-Verlag, N.Y. SHfYANNA, K. R., AND J. HESLOP-HARRISON. 1981. Membrane state and pollen viability. J. Ann. Bot. 47:759-766. SIMON, J., AND J. C. SANFORD. 1986. Induction of gametic selection in situ by stylar application of selective agents, pp. 107-112. In D. Mulcahy, G. Bergamini Mulcahy, and E. Ottaviano (eds.), Biotechnology and Ecology ofPollen. Springer-Verlag, N.Y. SNOW, A. A. 1986. Pollination dynamics in Epilobium canum (Onagraceae): Consequences for gametophytic selection. Amer. J. Bot. 73:139-151.
The outcome of neutrophil gelatinase-associated lipocalin-positive subclinical acute kidney injury: a multicenter pooled analysis of prospective studies.

OBJECTIVES
The aim of this study was to test the hypothesis that, without diagnostic changes in serum creatinine, increased neutrophil gelatinase-associated lipocalin (NGAL) levels identify patients with subclinical acute kidney injury (AKI) and therefore worse prognosis.


BACKGROUND
Neutrophil gelatinase-associated lipocalin detects subclinical AKI hours to days before increases in serum creatinine indicate manifest loss of renal function.


METHODS
We analyzed pooled data from 2,322 critically ill patients with predominantly cardiorenal syndrome from 10 prospective observational studies of NGAL. We used the terms NGAL(-) or NGAL(+) according to study-specific NGAL cutoff for optimal AKI prediction and the terms sCREA(-) or sCREA(+) according to consensus diagnostic increases in serum creatinine defining AKI. A priori-defined outcomes included need for renal replacement therapy (primary endpoint), hospital mortality, their combination, and duration of stay in intensive care and in-hospital.


RESULTS
Of study patients, 1,296 (55.8%) were NGAL(-)/sCREA(-), 445 (19.2%) were NGAL(+)/sCREA(-), 107 (4.6%) were NGAL(-)/sCREA(+), and 474 (20.4%) were NGAL(+)/sCREA(+). According to the 4 study groups, there was a stepwise increase in subsequent renal replacement therapy initiation-NGAL(-)/sCREA(-): 0.0015% versus NGAL(+)/sCREA(-): 2.5% (odds ratio: 16.4, 95% confidence interval: 3.6 to 76.9, p < 0.001), NGAL(-)/sCREA(+): 7.5%, and NGAL(+)/sCREA(+): 8.0%, respectively, hospital mortality (4.8%, 12.4%, 8.4%, 14.7%, respectively) and their combination (4-group comparisons: all p < 0.001). There was a similar and consistent progressive increase in median number of intensive care and in-hospital days with increasing biomarker positivity: NGAL(-)/sCREA(-): 4.2 and 8.8 days; NGAL(+)/sCREA(-): 7.1 and 17.0 days; NGAL(-)/sCREA(+): 6.5 and 17.8 days; NGAL(+)/sCREA(+): 9.0 and 21.9 days; 4-group comparisons: p = 0.003 and p = 0.040, respectively. Urine and plasma NGAL indicated a similar outcome pattern.


CONCLUSIONS
In the absence of diagnostic increases in serum creatinine, NGAL detects patients with likely subclinical AKI who have an increased risk of adverse outcomes. The concept and definition of AKI might need re-assessment.
Assessment of disease-related knowledge and possible factors associated with the knowledge level among Chilean patients with inflammatory bowel disease.

AIMS AND OBJECTIVES
To assess disease-related knowledge among patients with inflammatory bowel disease and to identify the factors that are possibly associated with the knowledge level.


BACKGROUND
Disease-related knowledge can positively influence the acceptance of the disease, increase treatment compliance and improve the quality of life in patients with inflammatory bowel disease.


DESIGN
An observational, cross-sectional study was conducted and prospectively included patients from the inflammatory bowel disease programme between October 2014-July 2015.


METHODS
A Spanish-translated version of the 24-item Crohn's and Colitis Knowledge score was used to assess disease-related knowledge. Patients also completed a demographic and clinical questionnaire.


RESULTS
A total of 203 patients were included, 62% were female, and 66% were diagnosed with ulcerative colitis; the median age was 34 years (range 18-79), and the median disease duration was four years. The median disease-related knowledge score was 9 (range 1-20). Only 29% of the patients answered more than 50% of the questions correctly. Lower disease-related knowledge was observed in questions related to pregnancy/fertility and surgery/complications. Patients older than 50 years, with ulcerative colitis, with disease durations less than five years and patients without histories of surgery exhibited lower disease-related knowledge. There was no association between the knowledge scores and the educational levels.


CONCLUSIONS
The patients who attended our inflammatory bowel disease programme exhibited poor disease-related knowledge that was similar to the knowledge levels that have been observed in developed countries. It is necessary to assess patient knowledge to develop educational strategies and evaluate the influences of these strategies on patient compliance and quality of life.


RELEVANCE TO CLINICAL PRACTICE
These results will allow the inflammatory bowel disease team to develop educational programmes that account for the disease-related knowledge of each patient. Inflammatory bowel disease nurses should evaluate their interventions to provide evidence that educating our patients contributes to improving their treatment outcomes and overall health statuses.