Analysis of haemochromatosis mutations in the North West population

Background: Hereditary haemochromatosis is a heritable disorder caused by an inborn error in the metabolism of iron. It results in over absorption of iron by the body, which can manifest clinically as fatigue, arthritis, diabetes and cardiovascular problems. The highest prevalence for the genetic mutations that cause hereditary haemochromatosis can be found in the Irish population. Individuals with diabetes may also have haemochromatosis (and vice versa), due to the bi-directional relationship between iron metabolism and glucose metabolism. Objectives: To determine the incidence of the three haemochromatosis mutations C282Y, H63D & S65C, in a population from the North West of Ireland and to investigate whether there is an increased frequency of these three mutations in a diabetic population from the same region. Method: DNA was extracted from 500 whole blood samples (250 diabetic samples and 250 ‘control’ samples) using a Wizard™ kit. PCR was conducted utilising specific primers for each mutation and in accordance with a set protocol. Following amplification, PCR product was subjected to restriction endonuclease digestion, where different restriction enzymes (Rsa I, Nde II & Hinf I) were employed to determine the HFE genotype status of samples. Results: The incidence of C282Y homozygosity (1/83) and C282Y heterozygosity (1/6) in the ‘control’ group was similar to those reported for the general Irish population (1/83 and 1/5, respectively). Incidences of H63D homozygotes and H63D heterozygotes or ‘carriers’ in the diabetic population were greater than that of the ‘control’ population. A significant finding of this study was that of an incidence of 1/32 S65C carriers in the control population. This is, to our knowledge, the highest incidence of the genotype reported to date in the general Irish population. Statistical analysis showed that there was no significant differences between the HFE genotype frequencies in the Diabetic and Control Populations. Conclusion: Results of the study concord with published literature in terms of C282Y homozygosity and C282Y heterozygosity in the general Irish population. An increased frequency of the H63D mutation in diabetic individuals was also found but was not statistically significant. The biochemical effect of the H63D mutation is still unknown. The significance of such a high incidence of S65C carriers in the ‘control’ population warrants further investigation.

Population dynamics of 0-group flounder (Platichthys flesus L.) in Galway Bay, West of Ireland and the value of flounder from shore angling tourism in Ireland

The economic value of flounder from shore angling around Ireland was assessed. Flounder catches from shore angling tournaments around Ireland were related to domestic and overseas shore angling expenditure in order to determine an economic value for the species. Temporal trends in flounder angling catches, and specimen (trophy) flounder reports were also investigated. Flounder was found to be the most caught shore angling species in competitions around Ireland constituting roughly one third of the shore angling competition catch although this did vary by area. The total value of flounder from shore angling tourism was estimated to be of the order of €8.4 million. No significant temporal trends in flounder angling catches and specimen reports were found. Thus there is no evidence from the current study for any decline in flounder stocks. The population dynamics of 0-group flounder during the early benthic stage was investigated at estuarine sites in Galway Bay, west of Ireland. Information was analysed from the March to June sampling period over five years (2002 to 2006). Spatial and temporal variations in settlement and population length structure were analysed between beach and river habitats and sites. Settlement of flounder began from late March to early May of each year, most commonly in April. Peak settlement was usually in April or early May. Settlement was recorded earlier than elsewhere, although most commonly was similar to the southern part of the UK and northern France. Settlement was generally later in tidal rivers than on sandy beaches. Abundance of 0-group flounder in Galway Bay did not exhibit significant inter -annual variability. 0-group flounder were observed in dense aggregations of up to 105 m'2, which were patchy in distribution. Highest densities of 0-group flounder were recorded in limnetic and oligohaline areas as compared with the lower densities in polyhaline and to a lesser extent mesohaline areas. Measurements to of salinity allowed the classification of beaches, and tidal river sections near the mouth, into a salinity based scheme for length comparisons. Beaches were classified as polyhaline,the lower section of rivers as mesohaline, and the middle and upper sections as oligohaline. Over the March to June sampling period 0-group flounder utilised different sections at different length ranges and were significantly larger in more upstream sections. During initial settlement in April, 0-group flounder of 8-10 mm (standard length, SL) were present in abundance on polyhaline sandy beaches. By about 10mm (SL), flounder were present in all polyhaline, mesohaline and (oligohaline) sections. 0-group flounder became absent or in insignificant numbers in polyhaline and mesohaline sections in a matter of weeks after first appearance. From April to June, 0-group flounder of 12-30mm (SL) were found in more upstream locations in the oligohaline sections. About one month (May or June) after initial settlement, 0-group flounder became absent from the oligohaline sections. Concurrently, flounder start to reappear in mesohaline and polyhaline areas at approximately 30mm (SL) in June. The results indicate 0-group flounder in the early benthic stage are associated with low salinity areas, but as they grow, this association diminishes. Results strongly suggest that migration of 0-group flounder between habitats takes place during the early benthic phase.

An assessment of biological and population parameters of the Common whelk, Buccinum undatum (L.) in the region of the North West Irish whelk fishery

The Common whelk, Buccinum undatum (L.) is a conspicuous benthic scavenger in Irish waters, and is a valuable fisheries resource in South East Ireland. B. undatum is fished in many parts of its range, and previous studies have shown that certain life history parameters, which vary with location, make this species vulnerable to overexploitation. This makes research into each exploited stock essential to ensure sustainable fisheries management of the species. In 2003, interest in B. undatum as a complementary species in the inshore fishery east of the Inishowen Peninsula, North West Ireland, initiated investigation into fisheries related biological and population aspects of the species in this region. The current study presents estimates of spatial variation and density of the stock, size at age and growth rates, size and age at onset of sexual maturity, and timing of reproductive events in the region of the North West Irish whelk fishery for the period of June 2003 to May 2004. Analysis of variance of the total shell length of whelk landings to the fishery was conducted over spatial scales of fishing pot, fishing string and landings to vessels. Landings varied significantly in shell length at the spatial scale at which whelks are attracted to baited pots, but did not vary significantly over larger spatial scales. Depletion estimates of stock density from fisheries derived Catch per Unit Effort data and a mark re-capture experiment estimate 0.134 - 0.227 whelks per m2. Two independent methods of age determination found similar growth logistics functions for B. undatum.Modal analysis of length frequency distribution of landings to the fishery estimated symptotic length, Leo = 151.64 mm and Brody growth coefficient, K = 0.04. Analysis of the striae in individual opercula, where each stria was found to represent annual growth, estimated Loo = 137.73 mm and K = 0.12. Common whelks in the region of the North West Irish whelk fishery grow slowly and are long-lived, with 19 opercula striae recorded in one individual. Onset of sexual maturity is late, and no sex-specific differences in size or age at maturity were determined in the present study. Males were found to achieve sexual maturity at 83.30 ± 10.77 mm, and 8.9 - 11.1 years of age, and females at 82.62 ± 10.68 mm and 8.8 to 11.1 years of age. Systematic observations of reproductive events, including histological changes to the female ovary and male testis, and changes in the size and mass of body components, suggest that breeding occurred between the autumn and winter months of October and December 2003. Biological aspects of B. undatum in the study region are compared with previous studies from other regions, and discussed in relation to sustainable management of the fishery.

Synchronous reproduction may facilitate introgression in a hybrid mussel (Mytilus) population

Mussel populations on the Irish Atlantic coast comprise an interbreeding mixture of the blue mussel, Mytilus edulis (L.) and the Mediterranean mussel, Mytilus galloprovincialis (Lmk.). The occurrence of hybrid genotypes varies between sites but can be as high 80%. This study compares the reproductive cycle of M. edulis, M. galloprovincialis and their hybrids to determine if the extensive hybridisation observed at Irish Atlantic coast sites is linked to spawning synchrony between the two taxa. Mussels (40-45 mm size class) were collected monthly from a sheltered shore in Galway Bay from January to December 2005. Two major spawning events (March- June and September-October) were observed and gametogenesis took place throughout the year. The spawning cycles of the three taxa were largely overlapping. Small differences were observed in the timing of peak spawning which occurred in March and October in M. galloprovincialis and in May-June and September in M.edulis. Spawning of hybrid individuals was intermediate between the parental genotypes. Fecundity was slightly higher in M. galloprovincialis females compared to the other taxa (up to 30% difference, p<0.05). This apparent advantage is not shared by the sexes and is likely being offset by high numbers of hybrid genotypes releasing gametes during peak spawning of M. galloprovincialis. There was no evidence for increased mortality in hybrid males; sex ratios did not deviate from the 1:1 ratio. The results show that in this region of the hybrid zone the timing of reproduction does not present a barrier to gene flow between M. edulis and M. galloprovincialis. Nonetheless, small differences in the timing of peak spawning may increase the likelihood of conspecific fertilisation at certain times of the year. Hybrids outnumber the parental genotypes, undergo complete gametogenesis and show no evidence of depressed fitness (i.e. hybrids are reproductively competent suggesting a high degree of introgression.

Age, growth and population dynamics of lemon sole Microstomus kitt (Walbaum 1792) sampled off the West Coast of Ireland

The age, growth, maturity and population dynamics of lemon sole (Microstomus kitt), captured off the west coast of Ireland (ICES division Vllb), were determined for the period November 2000 to February 2002. The maximum age recorded was 14 years. Males of the population were dominated by 4 year olds, while females were dominated by 5 year olds. Females dominated the sex ratio in the overall sample, each month sampled, at each age and from 22cm in total length onwards (when N > 20). Possible reasons for the dominance of females in the sex ratio are discussed. Three models were used to obtain the parameters of the von Bertalanfly growth equation. These were the Ford-Walford plot (Beverton and Holt 1957), the Gulland and Holt plot (1959) and the Rafail (1973) method. Results of the fitted von Bertalanffy growth curves showed that female lemon sole o f f the west coast of Ireland grew faster than males and attained a greater size. Male and female lemon sole mature from 2 years of age onwards. There is evidence in the population o f a smaller asymptotic length (L«, = 34.47cm), faster growth rate (K = 0.1955) and younger age at first maturity, all of which are indicative o f a decrease in population size, when present results are compared to data collected in the same area 22 years earlier. Results of the yield per recruit curve indicate that lemon sole are currently being over-fished o f f the west coast of Ireland. Problems of selectivity within the sampling method, particularly at the discarding stage, may have influenced the outcome of results of the models used in the assessment of this stock. Therefore, additional/future work on this species should include catch data which incorporates discards and not landings data alone.

Modern climate change in Georgia. Radiatively active small atmospheric admixtures

წიგნში წარმოდგენილია საქართველოში ზოგიერთი ოპტიკურად აქტიური მცირე ატმოსფერული მინარევის მრავალწლიური კვლევის შედეგები. წარმოდგენილია მონაცემები C02, CHx, S02 და აეროზოლების ანთროპოგენური ემისიების შესახებ. დაწვრილებითაა შესწავლილი აეროზოლების თვლადი კონცენტრაციის ვერტიკალური განაწილება ტროპოსფეროში საქართველოს სხვადასხვა რეგიონისთვის. ჩატარებულია ოზონის საერთო რაოდენობის, ატმოსფერული აეროზოლების ოპტიკური სიმკვრის და სხვა ნაერთების გრძელვადიანი ვარიაცების დეტალური ანალიზი. წარმოდგენილია ზოგიერთი ნაერთის გავლენის თეორიული შეფასება საქართველოში მზის პირდაპირი და გაბნეული რადიაციის რეჟიმზე.

Active shape structural model

Shape model, deformable models, structural models, biometry, content based image retrieval, sketches

"Differential metabolic recruitment of cognitive, emotional and modulatory brain regions in infant and adolescent rats undergoing two-way active avoidance training"

Magdeburg, Univ., Fak. für Naturwiss., Diss., 2011

Effects of Exercise Training on Heart Rate Variability in Chagas Heart Disease

Background: Heart rate variability (HRV) is a marker of autonomic dysfunction severity. The effects of physical training on HRV indexes in Chagas heart disease (CHD) are not well established. Objective: To evaluate the changes in HRV indexes in response to physical training in CHD. Methods: Patients with CHD and left ventricular (LV) dysfunction, physically inactive, were randomized either to the intervention (IG, N = 18) or control group (CG, N = 19). The IG participated in a 12-week exercise program consisting of 3 sessions/week. Results: Mean age was 49.5 ± 8 years, 59% males, mean LVEF was 36.3 ± 7.8%. Baseline HRV indexes were similar between groups. From baseline to follow-up, total power (TP): 1653 (IQ 625 - 3418) to 2794 (1617 - 4452) ms, p = 0.02) and very low frequency power: 586 (290 - 1565) to 815 (610 - 1425) ms, p = 0.047) increased in the IG, but not in the CG. The delta (post - pre) HRV indexes were similar: SDNN 11.5 ± 30.0 vs. 3.7 ± 25.1 ms. p = 0.10; rMSSD 2 (6 - 17) vs. 1 (21 - 9) ms. p = 0.43; TP 943 (731 - 3130) vs. 1780 (921 - 2743) Hz. p = 0.46; low frequency power (LFP) 1.0 (150 - 197) vs. 60 (111 - 146) Hz. p = 0.85; except for high frequency power, which tended to increase in the IG: 42 (133 - 92) vs. 79 (61 - 328) Hz. p = 0.08). Conclusion: In the studied population, the variation of HRV indexes was similar between the active and inactive groups. Clinical improvement with physical activity seems to be independent from autonomic dysfunction markers in CHD.

Stabilized finite element methods applied to transient convection-diffusion-reaction and population balance equations

Magdeburg, Univ., Fak. für Mathematik, Diss., 2011

Comparison of Postprandial Lipemia between Women who are on Oral Contraceptive Methods and Those who are not

Background: Postprandial Lipemia (PPL) is a physiological process that reflects the ability of the body to metabolize lipids. Even though the influence of oral contraceptives (OC) on PPL is not known, it is a known fact that their use increases fasting lipid values. Objective: To compare the PPL between women who are on OC and those who are not. Methods: A prospective analytical study which assessed eutrophic women, aged between 18 and 28 years old, who were irregularly active and with fasting triglycerides ≤150 mg/dL. They were divided into two groups: oral contraceptive group (COG) and non-oral contraceptive group (NCOG). Volunteers were submitted to the PPL test, in which blood samples were collected in time 0 (12-hour fasting) and after the intake of lipids in times 180 and 240 minutes. In order to compare the triglyceride deltas, which reflect PPL, the two-tailed Mann-Whitney test was used for independent samples between fasting collections and 180 minutes (Δ1) and between fasting and 240 minutes (Δ2). Results: Forty women were assessed and equally divided between groups. In the fasting lipid profile, it was observed that HDL did not present significant differences and that triglycerides in COG were twice as high in comparison to NCOG. Medians of Δ1 and Δ2 presented significant differences in both comparisons (p ≤0.05). Conclusion: The results point out that women who are irregularly active and use OC present more PPL in relation to those who do not use OC, which suggests that in this population, its chronic use increases the risk of heart conditions.