Miracle-dz/UniFAR-FTUs huggingface dataset:
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes. We performed GPC3 deletion screening on 80 male patients with somatic overgrowth in the following categories: SGBS (n = 19), possible SGBS (n = 26), including families in which individuals had previously been diagnosed with other overgrowth syndromes, and Wiedemann-Beckwith syndrome (WBS) (n = 35). Using exon-specific PCR and Southern blot analysis, we identified seven GPC3 deletions. In most cases a clear X-linked family history was not present. In two cases, GPC3 deletions were identified in patients belonging to pedigrees published previously as other overgrowth syndromes: one with a diagnosis of Sotos syndrome and the other Perlman syndrome with nephroblastomatosis. A third patient developed hepatoblastoma, a tumor type not previously described in SGBS. No GPC3 deletions were identified among the WBS patients. Direct sequencing of all GPC3 exons in the remaining 13 SGBS patients without GPC3 deletions did not identify any further mutations, raising the possibility of alternative silencing mechanisms and/or other genes in the pathogenesis of SGBS. Our results validate the clinical specificity of the facial appearance, skeletal/hand anomalies, and supernumerary nipples in patients with GPC3 deletions. Our data also suggest that nephroblastomatosis and hepatoblastoma are included in the phenotypic spectrum of GPC3 deletions and SGBS, underscoring the importance of tumor surveillance in these children.
Measurement of the Zone of Inhibition of an Antibiotic

In the Disk Diffusion Antibiotic Sensitivity test (The Kirby-Bauer test) a thin film of bacteria applied on a plate is subjected to various antibiotics. The Zone of inhibition is a circular area around the spot of the antibiotic in which the bacteria colonies do not grow. The zone of inhibition can be used to measure the susceptibility of the bacteria to wards the antibiotic. The process of measuring the diameter of this Zone of Inhibition can be automated using Image processing. In this work an algorithm is developed, using Computer Vision, which will detect the zones of inhibition of the bacteria. This work demonstrates an effective approach of measuring the Zone of Inhibition by calculating the radius of the zone by drawing contours and setting the right value of threshold. This work also determines if a particular bacteria is susceptible or resistant to the applied antibiotic using the calculated Zone of Inhibition and the prescribed standard values.
Korean National Health Insurance Database.

Additional Contributions: We also acknowledge computing support from University of Chicago’s Research Computing Center, the uConnect Community Advisory Board, and study participants for their time, effort, and dedication. We gratefully acknowledge the contributions of Dexter Voisin, PhD, School of Social Service Administration, University of Chicago, and Kenneth Mayer, MD, Fenway Institute. Dr Voisin received no compensation beyond his established salary for his contributions. Dr Mayer was not compensated for his contributions.
The augmented stage model of human information processing : how well do cognitive abilities drawn from the stages in the model predict concurrent task management performance?

approved: Kenneth H. Funk, H Research in the aviation domain, driving distractions, anesthesia administration, and nuclear power plant control rooms show that Concurrent Task Management (CTM) is a process that every human operator performs when interacting with complex environments. The need for understanding concurrent task management in a broader perspective more applicable and generalizable to different domains, led to the development of the Augmented Stage Model (ASM) of human information processing and the development of a test bed where hypotheses deriving from the augmented stage model can be tested. The ASM is an elaboration of the current Stage Model attempting to explain CTM in terms of those basic stages of human information processing and drawing on relevant, recent psychological research. One question that arises from the creation of the augmented stage model is to what degree the augmented stage model can be justified by actual human CTM performance. A corollary of this question is to what degree can CTM performance be explained by performance in simple tests that are derived directly from the stages of the model. To answer this question, 94 participants were tested on several standard cognitive tests suggested by the ASM: i.e. simple and complex reaction time, decision making, working memory, and intelligence. Performance in the cognitive tests was compared to participants' CTM performance in a multitasking simulator called the Task Management Environment (TME). The findings indicated that basic cognitive abilities, except for working memory, do not correlate significantly with CTM performance as calculated by the TME. Performance on three working Redacted for Privacy
Effects of a Three-Month Active Rehabilitation Program on Psychomotor Performance of Lower Limbs in Subjects with Low Back Pain: A Controlled Study with a Nine-Month Follow-up

Proper psychomotor performance is needed in work and in activities of daily living, but among subjects with low back pain this area has been studied Little. The present purpose was to evaluate the effect and permanence of a 3-mo. physical exercise program on the psychomotor performance of lower limbs in subjects with low back pain. The associations between psychomotor performance and intensity of low back pain and subjective disability were also evaluated. 90 subjects with nonspecific, subacute low back pain were assigned to one of the three groups: one given three months intensive training, one home exercise, or the control group. Four measurement sessions were made during the 1-yr. study. Psychomotor speed of lower limbs was analyzed with Choice Reaction Time, Movement Time, and Total Response Time. Flight Time of a vertical static jump was also measured. Muscle strength was assessed with conventional methods from trunk, lower limbs, and hand. Intensity of Current Back Pain was analyzed with the Borg scale. Subjective disability was evaluated with the Oswestry Index. Analysis showed that muscle strength and back pain intensity had associations with psychomotor performance but subjective disability or physical activity did not affect it noticeably. There were no changes in Choice Reaction Time, but Total Response Time and Movement Time decreased and Flight Time increased for all subjects. In the first postintervention measurement the home exercise group had significantly lower Movement Time than the intensively trained group. Back Pain Intensity decreased in both exercise groups for those subjects whose psychomotor performance values were below the mean value for the sample.
Object-based contextual image classification built on image segmentation

The continuously improving spatial resolution of remote sensing sensors sets new demand for applications utilizing this information. The need for the more efficient extraction of information from high resolution RS imagery and the seamless integration of this information into Geographic Information System (GIS) databases is driving geo-information theory, and methodology, into new territory. As the dimension of the ground instantaneous field of view (GIFOV), or pixel size, decreases many more fine landscape features can be readily delineated, at least visually. The challenge has been to produce proven man-machine methods that externalize and improve on human interpretation skills. Some of the most promising results come from the adoption of image segmentation algorithms and the development of so-called object-based classification methodologies. This paper builds on a discussion of different approaches to image segmentation techniques and demonstrates through several applications how segmentation and object-based methods improve on pixel-based image analysis/classification methods. In contrast to pixel-based procedure, image objects can carry many more attributes than only spectral information. In this paper, I address the concepts of object-based image processing, and present an approach that integrates the concept of object-based processing into the image classification process. Object-based processing not only considers contextual information but also information about the shape of and the spatial relations between the image regions.
Forest Gaps Inhibit Foliar Litter Pb and Cd Release in Winter and Inhibit Pb and Cd Accumulation in Growing Season in an Alpine Forest

Aims The release of heavy metals (such as Pb and Cd) from foliar litter play an important role in element cycling in alpine forest ecosystems. Although natural forest gaps could play important roles in the release of heavy metals from foliar litter by affecting the snow cover during the winter and solar irradiation during the growing season, few studies have examined these potential roles. The objectives of this study were to document changes in Pb and Cd dynamics during litter decomposition in the center of gaps and under closed canopies and to investigate the factors that controlled these changes during the winter and growing seasons. Methods Senesced foliar litter from six dominant species, including Kangding willow (Salix paraplesia), Masters larch (Larix mastersiana), Mingjiang fir (Abies faxoniana), Alpine azalea (Rhododendron lapponicum), Red birch (Betula albosinensis) and Mourning cypress (Sabina saltuaria), was placed in litterbags and incubated between the gap center and closed canopy conditions in an alpine forest in the eastern region of the Tibetan Plateau. The litterbags were sampled at the snow formation stage, snow coverage stage, snow melt stage and during the growing season. The Pb and Cd concentrations in the sampled foliar litter were determined by acid digestion (HNO3/HClO4). Important findings Over one year of decomposition, Pb accumulation and Cd release from the foliar litter occurred, regardless of the foliar litter species. However, Pb and Cd were both released from the foliar litter during the winter and accumulated during the growing season. Compared with the gap center and the canopy gap edge, the extended gap edge and the closed canopy showed higher Pb and Cd release rates in winter and higher Pb and Cd accumulation rates during the growing season, respectively. Statistical analyses indicate that the dynamics of Pb were significantly influenced by frequent freeze–thaw cycles in winter and appropriate hydrothermal conditions during the growing season, the dynamics of Cd were strongly influenced by species and the presence of a forest gap at different decomposition stages. These results show that forest gaps could inhibit Pb and Cd release from foliar litter in the alpine forest of western Sichuan. In addition, a decrease in the snow depth in the winter warming scenario would promote the release of Pb during foliar litter decomposition. There exist some difference that may be influenced by litter quality, microenvironment and microtopography during litter decomposition.
Clomipramine, Self-exposure and Therapist-aided Exposure for Obsessive–Compulsive Rituals

A randomised treatment design for 49 chronically obsessive–compulsive ritualising patients was devised and three controlled comparisons were made. 1. During 7 weeks of self-exposure instructions, clomipramine treatment improved some measures of rituals and depression significantly more than did placebo medication; this effect was transient and disappeared as drug treatment and exposure were continued for a further 15 weeks. 2. During 11–16 weeks of clomipramine treatment, self-exposure instructions yielded highly significantly more patient improvement than did anti-exposure instructions on nearly all measures of rituals and some of social adjustment. 3. Adding therapist-aided exposure (1.3 hours) to self-exposure instructions (3 hours) after 8 weeks had a barely significant transient effect of dubious clinical value, which was lost by the end of exposure (at week 23) and during follow-up assessments to week 52. We conclude that of the three therapeutic factors tested, self-exposure was the most potent; clomipramine played a limited adjuvant role, and therapist-aided exposure a marginal one.
Atypical Response of B-1 Cells to BCR Ligation: A Speculative Model

Peritoneal B-1a cells manifest unusual signaling characteristics that distinguish them from splenic B-2 cells. These include the failure of BCR engagement to trigger NF-κB activation and DNA replication. Despite extensive study, a clear explanation for these characteristics has not emerged. Here we aim to develop a unified paradigm based on previous reports and recent results, which proposes a central role for phosphatase activity. We hypothesize B-1a cells are unable to induce NF-κB or proliferate after BCR cross-linking due to increased phosphatase abundance or activity. This phosphatase abundance and/or activity may be the result of unique B-1a cell characteristics such as increased levels of HSP70 and/or constitutive secretion of IL-10. We speculate phosphatase activity cannot be overcome by BCR ligation alone due to insufficient Vav protein expression, which does not allow for proper production of reactive oxygen species, which inhibit phosphatases. Furthermore, constitutively active Lyn also plays a negative regulatory role in B-1a. We expect that a new focus on phosphatase activity and its suppression will be revealing for BCR signal transduction in B-1 cells.
NBER WORKING PAPER SERIES THE DETERMINANTS OF QUALITY SPECIALIZATION

A growing literature suggests that high-income countries export high-quality goods. Two hypotheses may explain such specialization, with different implications for welfare, inequality, and trade policy. Fajgelbaum, Grossman, and Helpman (2011) formalize the Linder hypothesis that home demand determines the pattern of specialization and therefore predict that high-income locations export high-quality products. The factor-proportions model also predicts that skillabundant, high-income locations export skill-intensive, high-quality products. Prior empirical evidence does not separate these explanations. I develop a model that nests both hypotheses and employ microdata on US manufacturing plants' shipments and factor inputs to quantify the two mechanisms' roles in quality specialization across US cities. Home-market demand explains as much of the relationship between income and quality as differences in factor usage. Jonathan I. Dingel Booth School of Business University of Chicago 5807 South Woodlawn Avenue Chicago, IL 60637 and NBER jdingel@chicagobooth.edu
The Amphipathic Helix of Adenovirus Capsid Protein VI Contributes to Penton Release and Postentry Sorting

ABSTRACT Nuclear delivery of the adenoviral genome requires that the capsid cross the limiting membrane of the endocytic compartment and traverse the cytosol to reach the nucleus. This endosomal escape is initiated upon internalization and involves a highly coordinated process of partial disassembly of the entering capsid to release the membrane lytic internal capsid protein VI. Using wild-type and protein VI-mutated human adenovirus serotype 5 (HAdV-C5), we show that capsid stability and membrane rupture are major determinants of entry-related sorting of incoming adenovirus virions. Furthermore, by using electron cryomicroscopy, as well as penton- and protein VI-specific antibodies, we show that the amphipathic helix of protein VI contributes to capsid stability by preventing premature disassembly and deployment of pentons and protein VI. Thus, the helix has a dual function in maintaining the metastable state of the capsid by preventing premature disassembly and mediating efficient membrane lysis to evade lysosomal targeting. Based on these findings and structural data from cryo-electron microscopy, we suggest a refined disassembly mechanism upon entry. IMPORTANCE In this study, we show the intricate connection of adenovirus particle stability and the entry-dependent release of the membrane-lytic capsid protein VI required for endosomal escape. We show that the amphipathic helix of the adenovirus internal protein VI is required to stabilize pentons in the particle while coinciding with penton release upon entry and that release of protein VI mediates membrane lysis, thereby preventing lysosomal sorting. We suggest that this dual functionality of protein VI ensures an optimal disassembly process by balancing the metastable state of the mature adenovirus particle.
TRANSCLERAL DRAINAGE OF SUBRETINAL FLUID, ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR, AND WIDE-FIELD IMAGING-GUIDED LASER IN COATS EXUDATIVE RETINAL DETACHMENT

Purpose: To evaluate the safety and efficacy of combined transscleral drainage of subretinal fluid (SRF) with intravitreal bevacizumab and laser photocoagulation in the management of advanced Coats disease (Stage 3) with exudative retinal detachment. Design: Retrospective interventional case series. Methods: Retrospective case review of eight eyes in eight children with advanced Coats disease manifested as total or subtotal retinal detachment. All eyes initially underwent surgical drainage of exudative SRF followed by intravitreal injection of bevacizumab and laser photocoagulation. Patients were subsequently followed up for up to 60 months. Results: In all eyes, after SRF drainage and administration of one to two intravitreal injections, SRF was completely eliminated. Patients required up to four sessions of laser photocoagulation. Retinal detachment consequently reduced with all patients showing total retinal reattachment and resolution of the subretinal exudates. At the last follow-up, no patient showed recurrent SRF and no ocular complications related to bevacizumab nor evidence of further disease progression were noted. Conclusion: The authors present a new therapeutic approach that allows for the first time successful treatment of advanced cases of exudative retinal detachment in Coats disease without the need for vitrectomy. Transscleral drainage of SRF accompanied by anti-vascular endothelial growth factor injection and laser photocoagulation appears to be successful in halting progression of advanced Coats disease with exudative detachment and a less invasive approach when compared with conventional management.
Association of Statins and Statin Discontinuation With Poor Outcome and Survival After Intracerebral Hemorrhage

Background and Purpose— Studies suggest a protective role for statins after intracerebral hemorrhage, but many failed to assess statin discontinuation, did not include postdischarge outcomes, or did not account for withdrawal of care. We studied the relationship between preintracerebral hemorrhage statin use and in-hospital statin discontinuation on stroke severity and 30-day mortality. Methods— We analyzed data from the Registry of the Canadian Stroke Network and determined the adjusted ORs for statin use and outcomes, controlling for stroke severity and other covariates. Results— We analyzed 2466 consecutive patients with intracerebral hemorrhage from 2003 to 2008: median age was 71 years, 53.6% were male, and 30-day mortality rate was 36.5%. Overall, 537 (21.7%) were taking statins before presentation. Compared with nonusers, statin users were less likely to have severe strokes on presentation (54.7% versus 63.3%) but had similar rates of poor outcome (70% versus 67%) and 30-day mortality (36% versus 37%). Statins were discontinued on admission in 158 of 537 (29.4%); these patients were more likely to have severe stroke (65% versus 27%, P<0.01), poor outcome (90% versus 62%, P<0.01), and to have died by 30 days (71% versus 21%, P<0.01). After adjusting for stroke severity, statin discontinuation was still associated with poor outcome (adjusted OR, 2.4; 95% CI, 1.13–4.56) and higher mortality (adjusted OR, 2.0; 95% CI, 1.30–3.04). However, these associations were attenuated and no longer significant after excluding patients treated palliatively. Conclusions— We found no association between preadmission statin use and outcomes in intracerebral hemorrhage. Statin discontinuation may worsen outcomes or may simply be a marker of worse underlying prognosis.
Stochastic coordination of multiple actuators reduces latency and improves chemotactic response in bacteria

Individual neuronal, signal transduction, and regulatory pathways often control multiple stochastic downstream actuators, which raises the question of how coordinated response to a single input can be achieved when individual actuators fluctuate independently. In Escherichia coli, the bacterial chemotaxis pathway controls the activity of multiple flagellar motors to generate the run-and-tumble motion of the cell. High-resolution microscopy experiments have identified the key conformational changes adopted by individual flagella during this process. By incorporating these observations into a stochastic model of the flagellar bundle, we demonstrate that the presence of multiple motors imposes a trade-off on chemotactic performance. Multiple motors reduce the latency of the response below the time scale of the stochastic switching of a single motor, which improves performance on steep gradients of attractants. However, the uncoordinated switching of multiple motors interrupts and shortens cell runs, which thereby reduces signal detection and performance on shallow gradients. Remarkably, when slow fluctuations generated by the adaptation mechanism of the chemotaxis system are incorporated in the model at levels measured in experiments, the chemotactic sensitivity and performance in shallow gradients is partially restored with marginal effects for steep gradients. The noise is beneficial because it simultaneously generates long events in the statistics of individual motors and coordinates the motors to generate a long tail in the run length distribution of the cell. Occasional long runs are known to enhance exploration of random walkers. Here we show that they have the additional benefit of enhancing the sensitivity of the bacterium to very shallow gradients.
Transmission Through a Narrow Slot in a Thick Conducting Screen

In this communication, the electromagnetic transmission problem through a narrow slot in a thick conducting screen is dealt with by using the modal expansion Galerkin's method in the space domain. The main concern centers on the condition for maximum power transmission through the slot in the thick conducting screen. Transmission cavity resonance phenomena, which are observed only when the resonance cavity is formed along the longitudinal direction inside the slot region in the thick conducting screen, are investigated. These transmission resonance peaks occur at particular values of the screen thickness, that is, when the thickness of the conducting screen is a little less than an integer number of half guide wavelength of the fundamental guided mode inside the slot region. It is also found that there is another type of transmission resonance phenomenon occurring regardless of the screen thickness. The latter type of transmission resonance is observed only when transverse resonance condition holds and can be taken as a generalization of the slot resonance in a thin conducting screen to that in an arbitrarily thick conducting screen.