Genetic disorders and spermatogenesis.

Male infertility affects one man in twenty and a genetic basis seems likely in at least 30% of those men. Genetic regulation of fertility involves the inter-related processes of testicular development, spermatogenesis (involving germ cell mitosis, meiosis and spermatid maturation), and their endocrine and paracrine regulation. In regard to spermatogenesis, particular attention has been given to the Yq11 region, where some spermatogenesis genes ('azoospermia factors') appear to be located. Several candidate genes have been identified but have not been shown to have a defined or essential role in spermatogenesis. Microdeletions of Yq11 are found in approximately 15% of azoospermic or severely oligospermic men. The complexity of the genetic control of male fertility is demonstrated by the evidence for genes involved in spermatogenesis and sexual differentiation on the X chromosome and autosomes. Better understanding of the genetic regulation of normal spermatogenesis will provide new probes for clinical studies; however, at present the majority of spermatogenic failure remains without an identified genetic linkage. The advent of intracytoplasmic sperm injection permits fertility in many previously sterile men and presents the possibility of their transmission of infertility; appropriate counselling is required.

Allocating transmission loss to loads and generators through complex power flow tracing

This paper presents a new method for complex power flow tracing that can be used for allocating the transmission loss to loads or generators. Two algorithms for upstream tracing (UST) and downstream tracing (DST) of the complex power are introduced. UST algorithm traces the complex power extracted by loads back to source nodes and assigns a fraction of the complex power flow through each line to each load. DST algorithm traces the output of the generators down to the sink nodes determining the contributions of each generator to the complex power flow and losses through each line. While doing so, active- and reactive-power flows as well as complex losses are considered simultaneously, not separately as most of the available methods do. Transmission losses are taken into consideration during power flow tracing. Unbundling line losses are carried out using an equation, which has a physical basis, and considers the coupling between active- and reactive-power flows as well as the cross effects of active and reactive powers on active and reactive losses. The tracing algorithms introduced can be considered direct to a good extent, as there is no need for exhaustive search to determine the flow paths as these are determined in a systematic way during the course of tracing. Results of application of the proposed method are also presented.

Determining generators' contribution to loads and line flows & losses considering loop flows

This paper presents a new method for calculating the individual generators' shares in line flows, line losses and loads. The method is described and illustrated on active power flows, but it can be applied in the same way to reactive power flows.

Short, medium and long term load forecasting model and virtual load forecaster based on radial basis neural networks

Artificial neural networks (ANNs) can be easily applied to short-term load forecasting (STLF) models for electric power distribution applications. However, they are not typically used in medium and long term load forecasting (MLTLF) electric power models because of the difficulties associated with collecting and processing the necessary data. Virtual instrument (VI) techniques can be applied to electric power load forecasting but this is rarely reported in the literature. In this paper, we investigate the modelling and design of a VI for short, medium and long term load forecasting using ANNs. Three ANN models were built for STLF of electric power. These networks were trained using historical load data and also considering weather data which is known to have a significant affect of the use of electric power (such as wind speed, precipitation, atmospheric pressure, temperature and humidity). In order to do this a V-shape temperature processing model is proposed. With regards MLTLF, a model was developed using radial basis function neural networks (RBFNN). Results indicate that the forecasting model based on the RBFNN has a high accuracy and stability. Finally, a virtual load forecaster which integrates the VI and the RBFNN is presented.

Coordinated Control of DFIG and FSIG-based Wind Farms under Unbalanced Grid Conditions

This paper investigates the control and operation of doubly-fed induction generator (DFIG) and fixed-speed induction generator (FSIG) based wind farms under unbalanced grid conditions. A DFIG system model suitable for analyzing unbalanced operation is developed, and used to assess the impact of an unbalanced supply on DFIG and FSIG operation. Unbalanced voltage at DFIG and FSIG terminals can cause unequal heating on the stator windings, extra mechanical stresses and output power fluctuations. These problems are particularly serious for the FSIG-based wind farm without a power electronic interface to the grid. To improve the stability of a wind energy system containing both DFIG and FSIG based wind farms during network unbalance, a control strategy of unbalanced voltage compensation by the DFIG systems is proposed. The DFIG system compensation ability and the impact of transmission network impedance are illustrated. The simulation results implemented in Matlab/Simulink show that the proposed DFIG control system improves not only its own performance, but also the stability of the FSIG system with the same grid connection point during network unbalance.

Genetic testing and the relationship between specific and general self-efficacy

The study examined the extent to which variations in health-specific self-efficacy could affect general self-efficacy. In a repeated measures design, 300 participants were administered an efficacy questionnaire, before and after an alleged news report, aimed at increasing or decreasing self-efficacy over genetic-testing decision making. The results found that self-efficacy over testing was significantly reduced after reading the negative news report in those participants who felt personal efficacy over testing decisions was important. Levels of general self-efficacy were also significantly decreased. The findings suggest that being denied control over a specific area of self-efficacy can have a wider impact, with a lack of perceived efficacy over testing decision making adversely impacting on levels of general well-being. The wider implications of this generalization effect and the processes involved in efficacy generalization are discussed.

Costs of resistance: genetic correlations and potential trade-offs in an insect immune system

Theory predicts that natural selection will erode additive genetic variation in fitness-related traits. However, numerous studies have found considerable heritable variation in traits related to immune function, which should be closely linked to fitness. This could be due to trade-offs maintaining variation in these traits. We used the Egyptian cotton leafworm, Spodoptera littoralis, as a model system to examine the quantitative genetics of insect immune function. We estimated the heritabilities of several different measures of innate immunity and the genetic correlations between these immune traits and a number of life history traits. Our results provide the first evidence for a potential genetic trade-off within the insect immune system, with antibacterial activity (lysozyme-like) exhibiting a significant negative genetic correlation with haemocyte density, which itself is positively genetically correlated with both haemolymph phenoloxidase activity and cuticular melanization. We speculate on a potential trade-off between defence against parasites and predators, mediated by larval colour, and its role in maintaining genetic variation in traits under natural selection.

Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA stud

Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions.

Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study

Objective: Genetic testing and colonoscopy is recommended for people with a strong history of colorectal cancer (CRC). However, families must communicate so that all members are aware of the risk. The study aimed to explore the factors influencing family communication about genetic risk and colonoscopy among people with a strong family history of CRC who attended a genetic clinic with a view to having a genetic test for hereditary non-polyposis colon cancer (HNPCC).