Miracle-dz/UniFAR-FTUs huggingface dataset:
Alström syndrome – an uncommon cause of early childhood retinal dystrophy

Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.
Residential Air Pollution, Road Traffic, Greenness and Maternal Hypertension: Results from GINIplus and LISAplus

Background: The public health burden of hypertension is high, but its relationship with long-term residential air pollution, road traffic, and greenness remains unclear. Objective: To investigate associations between residential air pollution, traffic, greenness, and hypertension among mothers. Methods: Information on doctor-diagnosed maternal hypertension was collected at the 15-year follow-up of two large population-based multicenter German birth cohorts—GINIplus and LISAplus (n=3063). Residential air pollution was modelled by land use regression models within the ESCAPE and universal kriging within the APMoSPHERE projects. Road traffic was defined as traffic load on major roads within a 100-m buffer around residences. Vegetation level (ie, greenness) was defined as the mean Normalized Difference Vegetation Index in a 500-m buffer around residences and was assessed from Landsat 5 TM satellite images. All the exposure variables were averaged over three residential addresses during the last 10 years and categorized into tertiles or dichotomized. The individual associations between each of the exposure variables and hypertension were assessed using logistic regression analysis. Results: No significant and consistent associations across different levels of adjustment were observed between the exposures of interest and hypertension. The only significant estimate was found with coarse particulate matter concentrations (OR 1.66, 95% CI 1.01 to 2.74; 3rd vs 1st tertile) among mothers residing in the Wesel area. No significant associations were observed with traffic load or greenness. Conclusion: This study does not provide evidence on detrimental effects of air pollution and road traffic or beneficial effects of greenness on hypertension among German adults.
Right-Sided Ectocervical Lesions May Be Associated with False-Negative Cytology Among Women with Histologic Cervical Intraepithelial Neoplasia 2 or 3

Background. The association between the location of an ectocervical lesion and the sensibility of cytologic screening has not been adequately evaluated. Methods. We evaluated the proportion of false-negative cytologic interpretations using three independent cytologic interpretations (conventional, PapNet, and ThinPrep) according to lesion location in 111 women with histologic cervical intraepithelial neoplasia 2 or 3 of a population-based study of cervical neoplasia conducted in Guanacaste, Costa Rica. Semiquantitative measures of human papillomavirus viral load were also considered. Results. Lesions on a women's right ectocervix were associated with more frequent false-negative results than lesions on left ectocervix for each of the cytologic methods or when the most severe interpretation was considered (p = .004). Right-sided lesions had nonsignificantly lower viral loads than left-sided lesions (p = .2). Conclusions. Cervical intraepithelial neoplasia 2 or 3 located on the right side of the cervix may be poorly sampled with broom samplers in some settings, resulting in false-negative cytologic results.
Temporal Aggregation of a Strong PGARCH(1,1) Process

Bollerslev’s (1986) standard GARCH(1,1) model has been successful in the literature of volatility modelling and forecasting in the past two decades. Many of its extensions are contributed to examine the stylized features often observed with financial asset data. One of the distinct success is Bollerslev and Ghysels’ (1996) periodic GARCH model, which takes into account periodic variation in the volatility of the underlying process. However, Drost and Nijman (1993) find that the conventional GARCH formulation works for only one sampling interval arbitrarily decided for the data in hand. This formulation does not apply to any other time intervals due to the assumption of an i.i. d. probability assumption for the underlying data. One of the problems caused by this will be that we cannot use ML method to estimate the GARCH model if the model is not for the original data set, but rather, for its temporally aggregated or dis-aggregated counterpart. Dorst and Nijman (1993) introduce the so-called weak GARCH formulation to tackle this problem and find this form of GARCH models apply to all sampling intervals for any given set of data. However, the ML method does not apply to the weak form of GARCH models since this formulation does not assume any probability distribution for the underlying standardised innovations. They thus propose a set of formulae to map the parameters of a weak GARCH(1,1) process sampled at one time interval to those of the same process but sampled at any other time interval. However, there is hitherto no analytical results for a weak PGARCH process. It is the main purpose of the paper to investigate the relationship amongst the parameters of a weak GARCH process before and after temporal aggregation. Our simulation results tend to suggest that a two-stage PGARCH process will aggregate into a weak GARCH process. Some analytical results about the aggregated process are introduced too.
Interactive Demand-Shifting in the Context of Domestic Micro-Generation. (Déplacement Intéractif des Consommations)

The combination of ubiquitous computing and emerging energy technologies is radically changing the home energy landscape. Domestic micro-generation, dominated by solar photovoltaic, is increasing at a rapid pace. This represents an opportunity for creating and altering energy behaviours. However, these transformations generate new challenges that we call the domestic energy gap: domestic electricity consumption and micro-generation are out of sync. Micro-generation is mainly uncontrollable production relying on weather while domestic energy consumption tends to happen mostly during the evening. This thesis focuses on understanding and supporting new domestic practices in the context of domestic solar electricity generation, looking at ‘Demand-Shifting’. Specifically, we look at how can digital tools leverage Demand-Shifting practices in the context of domestic micro-generation? Relying on a mixed-method approach, we provide a qualitative and quantitative answer with the collaboration of 38 participating households in several field studies including two spanning more than eight months. Through a deep investigation of laundry and electric mobility routines in the context of domestic micro-generation, we emphasised a natural engagement into Demand-Shifting which appeared as a complex and time-consuming task for participants which was not visible when we analysed their quantitative data. We revealed this complexity through Participatory Data Analyses, a method we designed to analyse the data in collaboration with the participating householders. This provided us with a comprehensive view of the relationship between domestic micro-generation and daily routines. Finally, we highlight the need for timely and contextual support through the deployment of interventions in-the-wild. Building on discussions of our findings in perspective of the literature, we propose a conceptual framework to support domestic interactive Demand-Shifting.
GrSim: a system for network visualization and exploration

We are presenting a system dedicated to the visualization and exploration of graphs. It is based on clustering and visualization through a spring-embedder-type algorithm. A particularity of the program is the control given to the user during actual simulations. We also introduce heuristics that help increase the processing speed of the simulation to rapidly yield useful information relative to the topological organization of graphs and the information they contain.
Impact of real-time electronic alerting of acute kidney injury on therapeutic intervention and progression of RIFLE class*

Objective:To evaluate whether a real-time electronic alert system or “AKI sniffer,” which is based on the RIFLE classification criteria (Risk, Injury and Failure), would have an impact on therapeutic interventions and acute kidney injury progression. Design:Prospective intervention study. Setting:Surgical and medical intensive care unit in a tertiary care hospital. Patients:A total of 951 patients having in total 1,079 admission episodes were admitted during the study period (prealert control group: 227, alert group: 616, and postalert control group: 236). Interventions:Three study phases were compared: A 1.5-month prealert control phase in which physicians were blinded for the acute kidney injury sniffer and a 3-month intervention phase with real-time alerting of worsening RIFLE class through the Digital Enhanced Cordless Technology telephone system followed by a second 1.5-month postalert control phase. Measurements and Main Results:A total of 2593 acute kidney injury alerts were recorded with a balanced distribution over all study phases. Most acute kidney injury alerts were RIFLE class risk (59.8%) followed by RIFLE class injury (34.1%) and failure (6.1%). A higher percentage of patients in the alert group received therapeutic intervention within 60 mins after the acute kidney injury alert (28.7% in alert group vs. 7.9% and 10.4% in the pre- and postalert control groups, respectively, p &mgr; .001). In the alert group, more patients received fluid therapy (23.0% vs. 4.9% and 9.2%, p &mgr; .01), diuretics (4.2% vs. 2.6% and 0.8%, p &mgr; .001), or vasopressors (3.9% vs. 1.1% and 0.8%, p &mgr; .001). Furthermore, these patients had a shorter time to intervention (p &mgr; .001). A higher proportion of patients in the alert group showed return to a baseline kidney function within 8 hrs after an acute kidney injury alert “from normal to risk” compared with patients in the control group (p = .048). Conclusions:The real-time alerting of every worsening RIFLE class by the acute kidney injury sniffer increased the number and timeliness of early therapeutic interventions. The borderline significant improvement of short-term renal outcome in the RIFLE class risk patients needs to be confirmed in a large multicenter trial. (Crit Care Med 2012; 40:–1170)
Fitting the Mixed Rasch Model to a Reading Comprehension Test: Identifying Reader Types.

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Does the liquidity effect between parent company and subsidiaries increase R&D investment?: Base on the corporate diversification strategy

Compared to traditional group that operating by subordinate segments, importing equity investment in subsidiaries by parent draws several special characters on the firm financial liquidity. Does the scale of parent equity investment in subsidiaries enhance the overall liquidity? Moreover, if this effect really exists, what association to the firm's R&D investment? In this paper, we used the year of 2008-2010 panel data of listed companies in China and cross-section data, to investigate the relationship between the scale of parent's equity investment under diversification strategy and corporate cash holding, and the cash sensitivity to R&D, we find that under the parent diversification behavior dominated by equity investment in subsidiaries, the internal capital market exists and the complementary cash flow can generate the liquidity effect, relieving financing constraint, but did not significantly reduce the sensitivity of R&D investment to cash flow. In addition, better corporate governance led to reduce the R&D scale, financing constraints and R&D expenditures negatively correlated.
Distal tibiofibular bone-bridging in transtibial amputation.

BACKGROUND The creation of a bone bridge between the residual tibia and fibula is a controversial surgical technique used in the performance of transtibial amputation. METHODS Twenty consecutive patients who underwent a unilateral transtibial amputation, as a consequence of traumatic injury, had distal tibiofibular bone-bridging performed by a single surgeon. Eight completed the Prosthesis Evaluation Questionnaire (PEQ), a validated outcomes instrument designed to measure patient self-reported health-related quality of life after a lower-extremity amputation. Their responses were compared with those of a previously reported control group of nondiabetic patients who had undergone transtibial amputation with the use of a traditional technique and with those of a previously reported consecutive group of Brazilian patients, including twelve who were diabetic, who had undergone a similar bone-bridge procedure. RESULTS The scores in the American bone-bridge group were similar to those in the control group and not as good as those in the Brazilian bone-bridge group. The American bone-bridge and control groups scored lower in the Social Burden, Ambulation, Frustration, Sounds, Utility, and Well-Being domains of the PEQ. CONCLUSIONS While many experts in the care of amputees believe that the distal tibiofibular bone-bridge technique improves patient functional outcomes, our small group of patients treated with this procedure did not appear to have better outcomes than a group of patients treated successfully with a standard surgical technique. More information is needed before the bone-bridge technique can be recommended as an important component of standard transtibial amputation surgery.
Towards a scalable ultrasensitive optomechanical magnetometer

Optomechanical magnetometers have been previously demonstrated to achieve sensitivities comparable to the state-of-the-art magnetometers of comparable size. They combine the ultra-precise cavity optomechanical measurement and magnetostrictive response of terfenol-d. We have achieved reproducible sensitivities of 600 pT/√Hz using a combination of standard photolithography and sputter deposition techniques which provides a pathway for scalable magnetometers for diverse applications.
Single-Crystal Silicon Photonic-Crystal Fiber-Tip Pressure Sensors

The combination of high-mechanical flexibility and high-optical reflectivity makes planar photonic crystal diaphragms excellent mirrors for optical resonators used in fiber-optic pressure sensing. We have developed a standard silicon process to construct a monolithic photonic crystal-based crystalline silicon membrane. We report on three photonic crystal pressure sensors with different compliances, and discuss the following figures of merit: spectral shift sensitivity; optical sensitivity; pressure sensitivity; resolution; and dynamic range. When compared with a sensor made with an oxide diaphragm, each of our sensors is at least an order of magnitude more sensitive, with a spectral shift sensitivity magnitude of up to 8.6 nm/kPa. We show that the fabrication can be tailored to optimize figures of merit depending on the needs of the application.
Cluster validation and discovery of multiple clusterings

Cluster analysis is an important unsupervised learning process in data analysis. It aims to group data objects into clusters, so that the data objects in the same group are more similar and the data objects in different groups are more dissimilar. There are many open challenges in this area. In this thesis, we focus on two: discovery of multiple clusterings and cluster validation. Many clustering methods focus on discovering one single ‘best’ solution from the data. However, data can be multi-faceted in nature. Particularly when datasets are large and complex, there may be several useful clusterings existing in the data. In addition, users may be seeking different perspectives on the same dataset, requiring multiple clustering solutions. Multiple clustering analysis has attracted considerable attention in recent years and aims to discover multiple reasonable and distinctive clustering solutions from the data. Many methods have been proposed on this topic and one popular technique is meta-clustering. Meta-clustering explores multiple reasonable and distinctive clusterings by analyzing a large set of base clusterings. However, there may exist poor quality and redundant base clustering which will affect the generation of high quality and diverse clustering views. In addition, the generated clustering views may not all be relevant. It will be time and energy consuming for users to check all the returned solutions. To tackle these problems, we propose a filtering method and a ranking method to achieve higher quality and more distinctive clustering solutions. Cluster validation refers to the procedure of evaluating the quality of clusterings, which is critical for clustering applications. Cluster validity indices (CVIs) are often used to quantify the quality of clusterings. They can be generally classified into two categories: external measures and internal measures, which are distinguished in terms of whether or not external information is used during the validation procedure. In this thesis, we focus on external cluster validity indices. There are many open challenges in
Gender Differences in the Pharmacokinetics of Oral Drugs

Establishment of rational dosage regimens requires the knowledge of pharmacokinetics and pharmacodynamics in the target population. It has been established that side effects produced by drugs are more frequent in women than in men. This may be due to two possibilities, one is that normalized dose received by women is higher than men and the other is that anatomical and physiological characteristics are a quite different. In this review, some aspects that may play a role in the generation of such differences are analyzed, including the impact on absorption, distribution, metabolism and excretion of drugs. Most of the changes can be explained by differences in volume of distribution and systemic clear- ance, however, presystemic clearance also seems to play a role in such dissimilarities. The final result, in general, is that women have higher plasma levels of drugs and usually these differences are reduced or abolished when data are normalized by the body weight, since both, volume of distribution and systemic clearance are influenced by it; however, there are some cases in which differences remain. Further research oriented to establish the role of each of the ana- tomical and physiological differences in the oral pharmacokinetics of drugs is warranted.
Fast cell immobilization by using non-immunological method for cell based biosensor

This paper reports a concept of a micro cell analysis system for fast cell immobilization by using a non-immunological method which is composed of a cell/drug inlet, a sheath flow inlet, a micro chamber and a outlet to biosensor/waste. Micro cell wells were located in the micro chamber. To define optimized parameters of micro cell analysis system, cell adhesion experiment using Hela at 0.5×10<sup>6</sup>, 1.0×10<sup>6</sup> or 2.0×10<sup>6</sup> cells/ml in micro wells with 10µm depth and 25µm, 50µm and 100µm size respectively was performed. Different tendencies of cell adhesion between 0.5×10<sup>6</sup> cells/ml and 1.0×10<sup>6</sup> cells/ml concentration were not detected. The highest concentration gave the best performance of cell immobilization, even though cell congregation appeared.
Mutations in pfmdr1 Modulate the Sensitivity of Plasmodium falciparum to the Intrinsic Antiplasmodial Activity of Verapamil

ABSTRACT As well as having the ability to reverse chloroquine resistance in the human malaria parasite Plasmodium falciparum, verapamil has itself an innate antiplasmodial activity. We show here that mutations in Pgh1, the product of the malaria parasite's pfmdr1 gene, influence the parasite's susceptibility to the toxic effects of verapamil.
Verbal Learning Differences in Epileptic Patients with Left and Right Temporal Lobe Foci

Summary: A verbal learning test patterned after and using the same format as the Rey Auditory‐Verbal Learning Test was administered to the following three groups: (1) patients with left temporal lobe epilepsy (L‐TLE) as defined by EEG criteria (n = 11); (2) patients with right temporal lobe epilepsy (n = 10); and (3) normal controls (n = 11). Performance was highly similar for all three groups during the five immediate recall learning trials. The performance of the L‐TLE group, averaged across three delayed recall trials (free recall, phonemic cued recall, semantic cued recall), was significantly poorer than that of the other two groups. The L‐TLE group showed the worst performance on the phonemic cued recall trial, poor performance on the delayed free recall trial, and relatively intact performance on the semantic cued recall trial. Immediate and delayed free recall and phonemic and semantic cued recall for the distractor list did not discriminate groups. Word frequency, word presentation order, and concrete versus abstract words did not have different effects across groups.
Mechanical Impact of Incisor Loading on the Primate Midfacial Skeleton and its Relevance to Human Evolution

The midfacial skeleton in the human lineage demonstrates a wide spectrum of variation that may be the consequence of different environmental and mechanical selective pressures. However, different facial configurations may develop under comparable selective regimes. For example, the Neanderthal high and projected face and the Inuit broad and flat face are hypothesized to be the consequence of (1) life in a cold climate, and (2) excessive paramasticatory stresses focused on the anterior dentition. In this study, the second of these two hypotheses is tested using finite element analyses of a monkey skull. Results indicate that incisor loading induces heavy stress in the anterior midface of macaques. Additional analyses using incremental increases in the anteroinferior tilt of the skull to simulate different magnitudes of facial projection revealed that comparable muscular force generates less stress in a less‐projected face. However, the findings of our final analyses, which attempted to combine biting with the incisors and pulling with the hands, differed from the analyses that mimicked only incisor loading (without any sort of anterior pulling component). These findings suggest that shortening the face may be the most effective way to compensate for anterior dental loading but not necessarily offset the forces incurred when using the anterior dentition as a vice for various paramasticatory behaviors. Although Neanderthals may have frequently loaded their anterior dentition, countervailing selection pressures, such as the inclusion of tough foods in the diet that demanded molar grinding, may have selected for a longer face with a lower load‐ to lever‐arm ratio. Anat Rec, 293:607–617, 2010. © 2010 Wiley‐Liss, Inc.