Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

A preliminary adaptation of the Problem Gambling Severity Index for Indigenous Australians: internal reliability and construct validity

Objective: This paper describes the process employed to adapt the Problem Gambling Severity Index (PGSI) for use with Indigenous Australian populations.Methods: This study comprised a two-stage process: an initial consultation with Indigenous health workers, informing the textual and conceptual adaptation of items, followed by trial of the adjusted instrument with Indigenous community members (n=301).Results: Internal reliability was demonstrated: Australian Indigenous Problem Gambling Index (AIPGI) Cronbach's alpha α = 0.92 (Original PGSI, α = 0.84). Item-rest correlations confirmed that responses to items were consistent and related to the total score of remaining items. The AIPGI could predict gambling severity based on gambling frequency, when controlling for age and gender (OR=1.28, 95%CI 1.17–1.40).Conclusions: The adapted instrument is accessible to a cross-section of Indigenous Australians and has demonstrated properties of reliability and validity. An extended trial is needed to test the application of the instrument to a broader Indigenous audience and to further explore and confirm psychometric properties of the adapted instrument.Implications: This study introduces a culturally adapted tool for measuring rates of disordered gambling among Indigenous Australians.

A SCR Model based on Reactor and Engine Experimental Studies for a Cu-zeolite Catalyst

A NOx reduction efficiency higher than 95% with NH3 slip less than 30 ppm is desirable for heavy-duty diesel (HDD) engines using selective catalytic reduction (SCR) systems to meet the US EPA 2010 NOx standard and the 2014-2018 fuel consumption regulation. The SCR performance needs to be improved through experimental and modeling studies. In this research, a high fidelity global kinetic 1-dimensional 2-site SCR model with mass transfer, heat transfer and global reaction mechanisms was developed for a Cu-zeolite catalyst. The model simulates the SCR performance for the engine exhaust conditions with NH3 maldistribution and aging effects, and the details are presented. SCR experimental data were collected for the model development, calibration and validation from a reactor at Oak Ridge National Laboratory (ORNL) and an engine experimental setup at Michigan Technological University (MTU) with a Cummins 2010 ISB engine. The model was calibrated separately to the reactor and engine data. The experimental setup, test procedures including a surrogate HD-FTP cycle developed for transient studies and the model calibration process are described. Differences in the model parameters were determined between the calibrations developed from the reactor and the engine data. It was determined that the SCR inlet NH3 maldistribution is one of the reasons causing the differences. The model calibrated to the engine data served as a basis for developing a reduced order SCR estimator model. The effect of the SCR inlet NO2/NOx ratio on the SCR performance was studied through simulations using the surrogate HD-FTP cycle. The cumulative outlet NOx and the overall NOx conversion efficiency of the cycle are highest with a NO2/NOx ratio of 0.5. The outlet NH3 is lowest for the NO2/NOx ratio greater than 0.6. A combined engine experimental and simulation study was performed to quantify the NH3 maldistribution at the SCR inlet and its effects on the SCR performance and kinetics. The uniformity index (UI) of the SCR inlet NH3 and NH3/NOx ratio (ANR) was determined to be below 0.8 for the production system. The UI was improved to 0.9 after installation of a swirl mixer into the SCR inlet cone. A multi-channel model was developed to simulate the maldistribution effects. The results showed that reducing the UI of the inlet ANR from 1.0 to 0.7 caused a 5-10% decrease in NOx reduction efficiency and 10-20 ppm increase in the NH3 slip. The simulations of the steady-state engine data with the multi-channel model showed that the NH3 maldistribution is a factor causing the differences in the calibrations developed from the engine and the reactor data. The Reactor experiments were performed at ORNL using a Spaci-IR technique to study the thermal aging effects. The test results showed that the thermal aging (at 800°C for 16 hours) caused a 30% reduction in the NH3 stored on the catalyst under NH3 saturation conditions and different axial concentration profiles under SCR reaction conditions. The kinetics analysis showed that the thermal aging caused a reduction in total NH3 storage capacity (94.6 compared to 138 gmol/m3), different NH3 adsorption/desorption properties and a decrease in activation energy and the pre-exponential factor for NH3 oxidation, standard and fast SCR reactions. Both reduction in the storage capability and the change in kinetics of the major reactions contributed to the change in the axial storage and concentration profiles observed from the experiments.

Localized Surface Plasmon Resonance Biosensors for Real-Time Biomolecular Binding Study

Surface Plasmon Resonance (SPR) and localized surface plasmon resonance (LSPR) biosensors have brought a revolutionary change to in vitro study of biological and biochemical processes due to its ability to measure extremely small changes in surface refractive index (RI), binding equilibrium and kinetics. Strategies based on LSPR have been employed to enhance the sensitivity for a variety of applications, such as diagnosis of diseases, environmental analysis, food safety, and chemical threat detection. In LSPR spectroscopy, absorption and scattering of light are greatly enhanced at frequencies that excite the LSPR, resulting in a characteristic extinction spectrum that depends on the RI of the surrounding medium. Compositional and conformational change within the surrounding medium near the sensing surface could therefore be detected as shifts in the extinction spectrum. This dissertation specifically focuses on the development and evaluation of highly sensitive LSPR biosensors for in situ study of biomolecular binding process by incorporating nanotechnology. Compared to traditional methods for biomolecular binding studies, LSPR-based biosensors offer real-time, label free detection. First, we modified the gold sensing surface of LSPR-based biosensors using nanomaterials such as gold nanoparticles (AuNPs) and polymer to enhance surface absorption and sensitivity. The performance of this type of biosensors was evaluated on the application of small heavy metal molecule binding affinity study. This biosensor exhibited ~7 fold sensitivity enhancement and binding kinetics measurement capability comparing to traditional biosensors. Second, a miniaturized cell culture system was integrated into the LSPR-based biosensor system for the purpose of real-time biomarker signaling pathway studies and drug efficacy studies with living cells. To the best of our knowledge, this is the first LSPR-based sensing platform with the capability of living cell studies. We demonstrated the living cell measurement ability by studying the VEGF signaling pathway in living SKOV-3 cells. Results have shown that the VEGF secretion level from SKOV-3 cells is 0.0137 ± 0.0012 pg per cell. Moreover, we have demonstrated bevacizumab drug regulation to the VEGF signaling pathway using this biosensor. This sensing platform could potentially help studying biomolecular binding kinetics which elucidates the underlying mechanisms of biotransportation and drug delivery.

Improving IT process management through value stream mapping approach: A case study

Value-Stream mapping (VSM) is a helpful tool to identify waste and improvement areas. It has emerged as a preferred way to support and implement the lean approach. While lean principles are well-established and have broad applicability in manufacturing, their extension to information technology is still limited. Based on a case study approach, this paper presents the implementation of VSM in an IT firm as a lean IT improvement initiative. It involves mapping the current activities of the firm and identifying opportunities for improvement. After several interviews with employees who are currently involved in the process, current state map is prepared to describe the existing problem areas. Future state map is prepared to show the proposed improvement action plans. The achievements of VSM implementation are reduction in lead time, cycle time and resources. Our finding indicates that, with the new process change, total lead time can be reduced from 20 days to 3 days – 92% reduction in overall lead time for database provisioning process.

The Ophelia (OPtimise HEalth LIteracy and Access) process : using health literacy alongside grounded and participatory approaches to develop interventions in partnership with marginalised populations

This paper seeks to explore the potential of a newly developed, grounded and participatory approach to development of health-literacy and health-care access interventions for equity – the Ophelia (OPtimising HEalth LIteracy and Access) process (Batterham et al., 2014). The methodology involves undertaking a needs assessment of the target population using intensive qualitative and quantitative methods, developing vignettes of key sub-groups within the population based on their health literacy profile of strengths and weaknesses, and then engaging with frontline practitioners and community membersin developing realistic solutions (Batterham et al., 2014).

Optimization of extrusion process to obtain shrimp snacks with rice grits and polished rice grains.

This research studied the effect of thermoplastic extrusion on the expansion index (EI), water absorption index (WAI), water solubility index (WSI), and sensory acceptance (SA) of a snack from rice grits, polished rice grains, and shrimp. A 23 factorial design was used with independent variables, temperature in the third extruder zone (63.2?96.8°C), initial moisture (106.4?173.6 g/kg), and shrimp content (16?184 g/kg), whereas EI, WAI, WSI, and SA were the responses. Through the surface-response methodology, the formulation with 80 g/kg shrimp and 130 g/kg initial moisture processed at 85°C in the third extruder zone was considered optimal. The product had good EI, WAI, and SA, 65.6 g/kg moisture, 24.0 g/kg lipids, 89.5 g/kg proteins, 34.2 kg/kg ashes, 72.4 g/kg fibers, and 714.3 g/kg carbohydrates. The product is an alternative for using rice grit, which has low commercial value, while also fully using the regional shrimp.

The Experience of Adult Literacy as a Learning Process in the Formation of Future Educators

Learning is constructed when it is significant, therefore, promoting experiences that can make sense and joy, which constitutes a challenge in the formation of future educators. In this article, we share the considerations emanated from an investigation that gathers the experience of alphabetizing adults, carried out by college students as part of their formation. As a result, this creates a learning process that favors the respect to diversity and the value of reading and writing as the liberation of mankind. The work displays the learnings constructed, the ways of respecting diversity that emerge from the alphabetizing experience, and the value that the students give to reading and writing as a liberating way of expression.

Learning Process in Teaching and Bio-pedagogical Knowledge Building

Bio-pedagogy is built on praxis, i.e. the interrelationship between reflection and innovative action where these two merge in the construction of senses to generate knowledge. Then, the following question arises: How is teaching understood? How can practice be renovated from the action-reflection-action in a recurring manner and in life itself? A way to search for those answers is the systematization of experiences –a modality of qualitative research. It promotes the transformation of a common practice, based on knowledge building by holistic approaches to the educational process complexity. The systematization of bio-pedagogical experiences involves self-organization, joy, uncertainty and passion; it respects freedom and autonomy, and generates relational spaces, which promote creative processes in learning.