Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood

We report on a female who is compound heterozygote for two new point mutations in the CYP19 gene. The allele inherited from her mother presented a base pair deletion (C) occurring at P408 (CCC, exon 9), causing a frameshift that results in a nonsense codon 111 bp (37 aa) further down in the CYP19 gene. The allele inherited from her father showed a point mutation from G-->A at the splicing point (canonical GT to mutational AT) between exon and intron 3. This mutation ignores the splice site and a stop codon 3 bp downstream occurs. Aromatase deficiency was already suspected because of the marked virilization occurring prepartum in the mother, and the diagnosis was confirmed shortly after birth. Extremely low levels of serum estrogens were found in contrast to high levels of androgens. Ultrasonographic follow-up studies revealed persistently enlarged ovaries (19.5-22 mL) during early childhood (2 to 4 yr) which contained numerous large cysts up to 4.8 x 3.7 cm and normal-appearing large tertiary follicles already at the age of 2 yr. In addition, both basal and GnRH-induced FSH levels remained consistently strikingly elevated. Low-dose estradiol (E2) (0.4 mg/day) given for 50 days at the age of 3 6/12 yr resulted in normalization of serum gonadotropin levels, regression of ovarian size, and increase of whole body and lumbar spine (L1-L4) bone mineral density. The FSH concentration and ovarian size returned to pretreatment levels shortly (150 days) after cessation of E2 therapy. Therefore, we recommend that affected females be treated with low-dose E2 in amounts sufficient to result in physiological prepubertal E2 concentrations using an ultrasensitive estrogen assay. However, E2 replacement needs to be adjusted throughout childhood and puberty to ensure normal skeletal maturation and adequate adolescent growth spurt, normal accretion of bone mineral density, and, at the appropriate age, female secondary sex maturation.

The door of the tomb is open: Participatory action research to assess the impact of strengthened community capacity on maternal health care in rural Mali

This participatory action-research project addressed the hypothesis that strengthened community and women's capacity for self-development will lead to action to address maternal health problems and the prevention of maternal morbidity and mortality in Mali. Research objectives were: (1) to undertake a comparative cross-sectional study of the association of community capacity with improved maternal health in rural areas of Sanando, Mali, where capacity building interventions have taken place in some villages but not in others. (2) to describe women's maternal health status, access to and use of maternal health services given their residence in program or comparison communities.^ The participatory action research project was an integrated qualitative and quantitative study using participatory rural appraisal exercises, semi-structured group interviews and a cross-sectional survey.^ Factors related to community capacity for self-development were identified: community harmony; an understanding of the benefits of self-development; dynamic leadership; and a structure to implement collective activities.^ A distinct difference between the program and comparison villages was the commitment to train and support traditional birth attendants (TBAs). The TBAs in the program villages work in the context of the wider, integrated self-development program and, 10 years after their initial training, the TBAs continue to practice.^ Many women experience labor and childbirth alone or are attended by an untrained relative in both program and comparison villages. Nevertheless a significant change is apparent, with more women in program villages than in comparison villages being assisted by the TBAs. The delivery practices of the TBAs reveal the positive impact of their training in the "three cleans" (clean hands of the assistant, clean delivery surface and clean cord-cutting). The findings of this study indicate a significant level of unmet need for child spacing methods in all villages.^ The training and support of TBAs in the program villages yielded significant improvements in their delivery practices, and resulting outcomes for women and infants. However, potential exists for further community action. Capacities for self-development have not yet been directed toward an action plan encompassing other Safe Motherhood interventions, including access to family planning services and emergency obstetric care services. ^

Traditional education vs modern education. What is the impact of teaching techniques' evolution on students learning process?

The main objective of this article is to focus on the analysis of teaching techniques, ranging from the use of the blackboard and chalk in old traditional classes, using slides and overhead projectors in the eighties and use of presentation software in the nineties, to the video, electronic board and network resources nowadays. Furthermore, all the aforementioned, is viewed under the different mentalities in which the teacher conditions the student using the new teaching technique, improving soft skills but maybe leading either to encouragement or disinterest, and including the lack of educational knowledge consolidation at scientific, technology and specific levels. In the same way, we study the process of adaptation required for teachers, the differences in the processes of information transfer and education towards the student, and even the existence of teachers who are not any longer appealed by their work due which has become much simpler due to new technologies and the greater ease in the development of classes due to the criteria described on the new Grade Programs adopted by the European Higher Education Area. Moreover, it is also intended to understand the evolution of students’ profiles, from the eighties to present time, in order to understand certain attitudes, behaviours, accomplishments and acknowledgements acquired over the semesters within the degree Programs. As an Educational Innovation Group, another key question also arises. What will be the learning techniques in the future?. How these evolving matters will affect both positively and negatively on the mentality, attitude, behaviour, learning, achievement of goals and satisfaction levels of all elements involved in universities’ education? Clearly, this evolution from chalk to the electronic board, the three-dimensional view of our works and their sequence, greatly facilitates the understanding and adaptation later on to the business world, but does not answer to the unknowns regarding the knowledge and the full development of achievement’s indicators in basic skills of a degree. This is the underlying question which steers the roots of the presented research.

Modulatory impact of cinnamaldehyde on immune cells is partly due to induction of apoptosis.

Cinnamaldehyde (CA) has been reported to have antiinflammatory, anti-bacterial, anti-fungal, chemoprotective and anti-carcinogenic activity. Here, we further investigated the immune-modulating capacity of CA.

What is the Impact of the Underserved Pathway program on Entering an Underserved Family Medicine Residency? A Comparison of Three Approaches for Estimating the Average Treatment Effect

Thesis (Master's)--University of Washington, 2016-06

The impact of foreign direct investment on UK manufacturing: is there a profit squeeze in domestic firms?

This paper examines the extent to which foreign direct investment (FDI) in selected UK manufacturing sectors has an impact on reported profits in domestic firms. Foreign manufacturing firms are characterized by relatively high labour productivity and low wage shares. Entry by foreign firms not only impacts on domestic market shares, but also on domestic cost conditions. As a result, profitability in the indigenous sector may be reduced. There are a number of policy implications of this analysis which are explored.

Is a little sunshine all we need? On the impact of sunshine regulation on profits, productivity and prices in the Dutch drinking water sector

This paper analyzes the performance of Dutch drinking water utilities before and after the introduction of sunshine regulation, which involves publication of the performance of utilities but no formal price regulation. By decomposing profit change into its economic drivers, our results suggest that, in the Dutch political and institutional context, sunshine regulation was effective in improving the productivity of publicly organised services. Nevertheless, while sunshine regulation did bring about a moderate reduction in water prices, sustained and substantial economic profits suggest that it may not have the potential to fully align output prices with economic costs in the long run. In methodological terms, the DEA based profit decomposition is extended to robust and conditional non-parametric efficiency measures, so as to account better for both uncertainty and differences in operating environment between utilities.

Drága-e a megújuló? – A hazai megújuló villamosenergia-termelés hatása a villamos energia árára (Is the renewable energy expensive? – Impact of the Hungarian renewable based power generation on electricity price)

A tanulmány arra keresi a választ, hogy a megújuló alapú áramtermelők támogatása csökkentőleg hathat- e a villamos energia nagykereskedelmi és kiskereskedelmi árára. Ez utóbbi tartalmazza a megújulók támogatásának összegét is. Számos elméleti cikk rámutatott arra, hogy nemcsak a nagykereskedelmi árak, hanem a kiskereskedelmi villamosenergia-árak is csökkenhetnek a drágább, megújuló alapú áramtermelők támogatása révén. A tanulmány során egy villamosenergia-piacokat szimuláló modell segítségével modellezi a szerző, hogy a különböző mennyiségű szélerőművi és fotovoltaikus kapacitás támogatása hogyan hat a magyarországi nagykereskedelmi és kiskereskedelmi árakra. _____ Impact of the Hungarian renewable based power generation on electricity price The aim of this paper is to answer the question whether the support of renewable power generation could decrease the wholesale and retail electricity prices. The latter one includes the support of renewables. Several studies point out that not only the wholesale, but the retail electricity prices could decrease when supporting the more expensive, renewable power generation. A model, which simulates the electricity markets, is used in order to analyse the impact of different level of wind and photo voltaic power generator support fee on Hungarian wholesale and retail electricity prices.

Phosphorus Biogeochemistry and the Impact of Phosphorus Enrichment: Why Is the Everglades so Unique?

The Florida Everglades is extremely oligotrophic and sensitive to small increases in phosphorus (P) concentrations. P enrichment is one of the dominant anthropogenic impacts on the ecosystem and is therefore a main focus of restoration efforts. In this review, we synthesize research on P biogeochemistry and the impact of P enrichment on ecosystem structure and function in the Florida Everglades. There are clear patterns of increased P concentrations and altered structure and processes along nutrient-enrichment gradients in the water, periphyton, soils, macrophytes, and consumers. Periphyton, an assemblage of algae, bacteria, and associated microfauna, is abundant and has a large influence on phosphorus cycling in the Everglades. The oligotrophic Everglades is P-starved, has lower P concentrations and higher nitrogen–phosphorus (N:P) ratios, and has oxidized to only slightly reduced soil profiles compared to other freshwater wetland ecosystems. Possible general causes and indications of P limitation in the Everglades and other wetlands include geology, hydrology, and dominance of oxidative microbial nutrient cycling. The Everglades may be unique with respect to P biogeochemistry because of the multiple causes of P limitation and the resulting high degree of limitation.

Domains of faith impact: how “faith” is perceived to shape faith-based international development organisations

Increasing interest in faith-based international development organisations (FBOs) recently has improved understanding of these agencies. One reason for complex, often contradictory findings is the lack of frameworks analysing the interactions of worldviews on organisational structures, processes, and behaviours of agencies, and development outcomes. We utilise Lincoln's (2003. Holy Terrors: Thinking about Religion after September 11. Chicago: University of Chicago Press) four “domains of religion” to explore how the literature reports faith impacting the shape of development FBOs’ structures, behaviours, and outcomes. Literature suggests faith has a significant impact upon these agencies. We outline very specific similarities and differences, highlighting the importance of nuanced analysis of faith's role in FBOs. Further research is needed to build more evidence around these impacts of faith on FBOs

Impact of IS/IT Investments on Firm Performance: Does Stakeholder Orientation Matter?

This research project addresses a central question in the IS business value field: Does IS/IT investments impact positively on firm financial performance? IS/IT investments are seen as having an enormous potential impact on the competitive position of the firm, on its performance, and demand an active and motivated participation of several stakeholder groups. Actual research conducted in the Information Systems field, relating IS/IT investments with firm performance use transactions costs economics and resource-based view of the firm to try to explain and understand that relationship. However, it lacks to stress the importance of stakeholder management, as a moderator variable in that relationship. Stakeholder theory sees the firm as the hub centric to the spokes representing various stakeholders who were in essence equidistant to the firm, and survival and continuing profitability of the corporation depend upon its ability to fulfil its economic and social purpose, which is to create and distribute wealth or value sufficient to ensure that each primary stakeholder group continues as part of the corporation’s stakeholder system. Stakeholder theory in its instrumental version, argues that if a firm pays attention to the stakes of all stakeholder groups (and not just shareholders), it will obtain higher levels of financial performance. With this premise in mind, the aim of this paper is to discuss and test the use of stakeholder theory in the IS business value stream of research, in order to achieve a better understanding of the impact of IS/IT investments on firm performance (moderated by stakeholder management). To achieve the expected impact from an IS/IT investment, it is argued that firms need a strong commitment from those stakeholder groups, which lead us to the need of a corporate “stakeholder orientation”. When firm financial performance is measured by returns on assets (ROA), returns on investments (ROI) and returns on sales (ROS), the results show that “stakeholder orientation” impact positively in the relation between IS/IT and firm performance, using a sample of Portuguese large companies.

The Impact of Internal Market Orientation on Staff Service Behaviours

The impact of service direction, service training and staff behaviours on perceptions of service delivery are examined. The impact of managerial behaviour in the form of internal market orientation (IMO) on the attitudes of frontline staff towards the firm and its consequent influence on their customer oriented behaviours is also examined. Frontline service staff working in the consumer transport industry were surveyed to provide subjective data about the constructs of interest in this study, and the data were analysed using structural equations modelling employing partial least squares estimation. The data indicate significant relationships between internal market orientation (IMO), the attitudes of the employees to the firm and their consequent behaviour towards customers. Customer orientation, service direction and service training are all identified as antecedents to high levels of service delivery. The study contributes to marketing theory by providing quantitative evidence to support assumptions that internal marketing has an impact on services success. For marketing practitioners, the research findings offer additional information about the management, training and motivation of service staff towards service excellence.

Linking Theory and Practice: Performing a Reality Check on a Model of IS Success

The issue of ‘rigour vs. relevance’ in IS research has generated an intense, heated debate for over a decade. It is possible to identify, however, only a limited number of contributions on how to increase the relevance of IS research without compromising its rigour. Based on a lifecycle view of IS research, we propose the notion of ‘reality checks’ in order to review IS research outcomes in the light of actual industry demands. We assume that five barriers impact the efficient transfer of IS research outcomes; they are lack of awareness, lack of understandability, lack of relevance, lack of timeliness, and lack of applicability. In seeking to understand the effect of these barriers on the transfer of mature IS research into practice, we used focus groups. We chose DeLone and McLean’s IS success model as our stimulus because it is one of the more widely researched areas of IS.