Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e.g. cone/cone-rod dystrophy (COD/CORD). This thesis is focused on finding the genetic basis of disease in families with autosomal dominant COD, autosomal dominant RP, and Bothnia dystrophy (BD), a regional variant of RP.   A variant of COD was previously mapped to 17p12-p13 in a family from northern Sweden. One additional family originating from the same geographical area was included in fine mapping of this chromosome region. Using 12 microsatellite markers in linkage and haplotype analysis, the region was refined from 26.9 to 14.3 cM. A missense mutation, Q626H, in an evolutionarily conserved region of PITPNM3, phosphatidylinositol transfer membrane-associated protein, was identified. The mutation segregated with the disease in both families and was absent from normal control chromosomes. PITPNM3 is a human homologue of the Drosophila retinal degeneration (rdgB) protein, which is highly expressed in the retina and has been proposed to be required for membrane turnover of photoreceptor cells. With the intention of establishing the global impact that PITPNM3 has on retinal degenerations 165 DNA samples from COD and CORD patients were obtained from Denmark, Germany, the UK, and USA and screened for mutations. The Q626H mutation found in the Swedish families was also found in one British family and a novel Q342P variant was detected in a German patient. In addition, two intronic variants were identified: c.900+60C>T and c.901-45G>A. Thus, we concluded that mutations in PITPNM3 represent a rare cause of COD worldwide. In two large families from northern Sweden showing autosomal dominant RP with reduced penetrance, the disease locus was mapped using genome-wide linkage analysis to 19q13.42 (RP11). Since mutation screening of eight genes on 19q13.42 revealed no mutations, multiplex ligation-dependent probe amplification (MLPA) was used to screen for large genomic abnormalities in PRPF31, RHO, RP1, RPE65, and IMPDH1. A large deletion spanning 11 exons of PRPF31 and three genes upstream was identified. Using long-range PCR, the breakpoints of the deletion were identified and the size of the deletion was determined to encompass almost 59 kb. BD is an autosomal recessive type of RP with high prevalence in northern Sweden. The disease is associated with a c.700C>T mutation in RLBP1. In a screening of recessive RP in northern Sweden, 67 patients were found to be homozygous for c.700C>T and 10 patients were heterozygous. An evaluation with arrayed primer extension (APEX) technology revealed a second mutation, c.677T>A, in RLBP1 giving rise to compound heterozygosity in these patients. In addition, a c.40C>T exchange in CAIV was detected in a patient with BD and in 143 healthy blood donors. The c.40C>T substitution in CAIV has been reported to cause autosomal dominant RP in South African families with European ancestry. However, in the population of northern Sweden it appears to be a benign polymorphism. In summary, a first mutation in PITPNM3, encoding a human homologue of the Drosophila retinal degeneration protein, was detected in two large families with COD. A large deletion in PRPF31 was discovered in two families with autosomal dominant RP showing reduced penetrance and in 10 patients BD was shown to be caused by two allelic mutations in RLBP1.

Abstract The aims of this thesis included identifying ways to mitigate the economic losses of the commercial fishery in the Gulf of Bothnia resulting from fishery regulation enforced to protect wild Atlantic salmon stocks, the recent decline in survival of hatchery-reared salmon, and the dramatically increased seal-induced catch and gear damage. In addition, these solutions should facilitate safeguarding the recently-recovered wild salmon stocks and seal populations. Other goals included adding to and updating basic knowledge on the effects of increased seal populations, migrating salmon stocks, the coastal trap-net fishery, and their interactions. Seal-induced damage to the commercial fishery was found to be a significant problem throughout the Gulf of Bothnia. Catch and gear damage varied considerably among regions, fishing periods, target species and trap-net models. The regional patterns in seal-induced damage depended on the number of seals in the region and the type of gear, which is strongly associated with the netting materials. Strong and thick materials are more resistant to the attacks of hunting seals. Finer materials and larger mesh sizes that entangle fish are most prone to seal damage. Besides careful selection of the netting material it is also possible to markedly reduce damage by appropriate gear modifications. Three modified trap-net models showed promising results in terms of seal protection, with the pontoon trap being the most successful design. The total size of the spawning salmon population in the Gulf of Bothnia was c. 230 000 in the first two years of the 2000s. The proportions of wild salmon and hatchery-reared salmon, however, appeared to markedly change between years. The survival rate of cultured smolts seems to be considerably lower than that of wild smolts. Large variation in the returning migration patterns and run timing of salmon was found between sea age groups, stock components, and among and within regions. Run timing estimates revealed that the temporal regulation effectively safeguards the wild salmon, but, at the same time, a substantial proportion of the reared salmon escape the coastal fisheries in different regions. The likelihood of survival of wild salmon captured with trap-nets and then released was high, and the cumulative mortality even after several capture-and-release events was estimated to below. Trap-net capture and release did not lead to considerable changes in the normal migration behaviour of Atlantic salmon. This result suggests the potential for a selective harvesting strategy; a system where exploitable (e.g. hatchery-reared fish) and safeguarded (e.g. wild vulnerable stocks) fractions of a fish population complex could be separated in a mixed-stock fishery. However, before introducing a practical and successful selective trap-net fishery, several preconditions should be fulfilled.

<p>The global carbon cycle is subject to intense research, where sources and sinks for greenhouse gases, carbon dioxide in particular, are estimated for various systems and biomes. Lakes have previously been neglected in carbon balance estimations, but have recently been recognized to be significant net sources of CO2.</p><p>This thesis estimates emission of carbon dioxide (CO2) from boreal lakes and factors regulating the CO2 saturation from field measurements of CO2 concentration along with a number of chemical, biological and physical parameters. Concentration of dissolved organic carbon (DOC) was found to be the most important factor for CO2 saturation in lake water, whereas climatic parameters such as precipitation, temperature and global radiation were less influential. All lakes were supersaturated with and, thus, sources of CO2. Sediment incubation experiments indicated that in-lake mineralization processes during summer stratification mainly occurred in the pelagial. Approximately 10% of the CO2 emitted from the lake surface was produced in epilimnetic sediments. </p><p>The mineralization of DOC and emission of CO2 from freshwaters was calculated on a catchment basis for almost 80,000 lakes and 21 major catchments in Sweden, together with rates of sedimentation in lakes and export of organic carbon to the sea. The total export of terrestrial organic carbon to freshwaters could thereby be estimated and consequently also the importance of lakes for the withdrawal of organic carbon export from terrestrial sources to the sea. Lakes removed 30-80% of imported terrestrial organic carbon, and mineralization and CO2 emission were much more important than sedimentation of carbon. The carbon loss was closely related to water retention time, where catchments with short residence times (<1 year) had low carbon retentions, whereas in catchments with long residence times (>3 years) a majority of the imported TOC was removed in the lake systems. </p><p>The Gulf of Bothnia was also studied in this thesis and found to be a net heterotrophic system, emitting large amounts of CO2 to the atmosphere on an annual basis. The rate of CO2 emission was depending on the balance between primary production and bacterial respiration, and the system was oscillating between being a source and a sink of CO2.</p>

The global carbon cycle is subject to intense research, where sources and sinks for greenhouse gases, carbon dioxide in particular, are estimated for various systems and biomes. Lakes have previously been neglected in carbon balance estimations, but have recently been recognized to be significant net sources of CO2. This thesis estimates emission of carbon dioxide (CO2) from boreal lakes and factors regulating the CO2 saturation from field measurements of CO2 concentration along with a number of chemical, biological and physical parameters. Concentration of dissolved organic carbon (DOC) was found to be the most important factor for CO2 saturation in lake water, whereas climatic parameters such as precipitation, temperature and global radiation were less influential. All lakes were supersaturated with and, thus, sources of CO2. Sediment incubation experiments indicated that in-lake mineralization processes during summer stratification mainly occurred in the pelagial. Approximately 10% of the CO2 emitted from the lake surface was produced in epilimnetic sediments. The mineralization of DOC and emission of CO2 from freshwaters was calculated on a catchment basis for almost 80,000 lakes and 21 major catchments in Sweden, together with rates of sedimentation in lakes and export of organic carbon to the sea. The total export of terrestrial organic carbon to freshwaters could thereby be estimated and consequently also the importance of lakes for the withdrawal of organic carbon export from terrestrial sources to the sea. Lakes removed 30-80% of imported terrestrial organic carbon, and mineralization and CO2 emission were much more important than sedimentation of carbon. The carbon loss was closely related to water retention time, where catchments with short residence times (&lt;1 year) had low carbon retentions, whereas in catchments with long residence times (&gt;3 years) a majority of the imported TOC was removed in the lake systems. The Gulf of Bothnia was also studied in this thesis and found to be a net heterotrophic system, emitting large amounts of CO2 to the atmosphere on an annual basis. The rate of CO2 emission was depending on the balance between primary production and bacterial respiration, and the system was oscillating between being a source and a sink of CO2.

Cracks in the concrete slab of continuous composite bridges are common due to the tensile stresses at the supports. These bridges are allowed to crack as long as the cracking is controlled and not exceeding the design crack width (according to Bro 94 the crack should be injected if they are bigger than 0.2 mm). The Ångermanälven Bridge (railway bridge part of the Bothnia line project) was designed with big edge beams of width 1.2 m, 40 % of the total area of the concrete deck cross-section. During the final inspection cracks larger than the design crack width (0.3 mm according to Bro 94) were observed over the supports.In this thesis the design and the construction procedure of the bridge is studied to clarify the causes of the cracking in the edge beam. The objectives of this thesis were addressed through a literature study of the different types of cracks and the Swedish bridge codes. The expected crack width was calculate according to the same code, using a 2-D FEM model for the moment calculation, and compared with the crack width measured at the bridge.The result of the calculations shows that tensile stress due to ballast and only restraining moment due to shrinkage is not big enough to cause the measured crack width. Shrinkage force and temperature variation effects may have contributed to the concrete cracking in the edge beams. The large cross-section area of the edge beams indicates that it should be designed as part of the slab, taking that into consideration, 1.1 % reinforcement ratio in the edge beams is believed to limit the crack width to the code limits (0.3 mm).

Environmental awareness has strongly increased these last years, especially in the developed countries where societies have become increasingly preoccupied by the natural resource depletion and environmental degradation. At the same time, the increasing mass transportation demand throughout the European Union requires the development of new infrastructures. Life Cycle Assessment is increasingly used to provide environmental information for decision-makers, when a choice is to be made about the transportation mode to be implemented on a given route. In a life-cycle perspective, not only the environmental pressure of the operation of vehicles but also the burden from the infrastructure, in particular bridges as key links of the road and railway networks, has to be assessed when comparing transportation modes. Based on an extensive literature review, a simplified quantitative LCA is implemented in order to compare the environmental performance of two railway bridge designs. It is meant to be useful at an early stage in the design process, when no detailed information about the bridge is available, and when rough environmental estimations are needed. The Excel based model covers the entire life-cycle of the bridge, from raw material extraction to construction materials recycling and disposal. Various assumptions and omissions are made to narrow the scope of the analysis. For instance, processes that are found insignificant in the literature are omitted, and only a limited set of relevant emissions and impacts to the environment is considered. The model provides fully transparent results at the inventory and impact assessment level. The streamlined approach is tested by comparing the environmental burden throughout the life-cycle of a steel-concrete composite railway bridge on a single span, equipped with either a ballasted or a fixed concrete single track. The results show that the environmental impacts of the fixed track alternative are lower than that of the ballasted track alternative, for every impact categories. In a sustainable development perspective, it would thus have been preferable to install a fixed track over the bridge to reduce its overall impact on the environment by about 77%. The raw material phase is found decisive in the life-cycle of both alternatives. The frequency of the replacement of the track is identified as a key environmental parameter, since the road traffic emissions during bridge closure nearly overwhelmed the other life-cycle stages.

The Gulf of Bothnia consists of two sub-basins in the northern Baltic Sea: the Bothnian Sea (salinity 4-5‰) and Bothnian Bay (salinity 2-3‰). Changing nutrient concentrations and signs of eutrophication has recently been observed in the Gulf of Bothnia. Many rivers enter this sea area, and potentially river inflows constitute a source of nutrient pollution via waste-water emissions. The aim of this study was to elucidate effects of waste-water emissions in four rivers in northern Sweden, Luleå, Skellefteå, Umeå and Söderhamn. My approach was to compare nutrient concentrations at upstream and downstream sampling stations related to the position of waste-water treatment plants. Temporal data from 2006 to 2021 were used and statistically analyzed using non-parametric tests to establish spatial and temporal patterns for nutrient discharged to the coast. The results showed that there are statistically differences in dissolved inorganic phosphorus (DIP) in the form of phosphate (PO4), ammonia (NH4) and total nitrogen (TotN) between the upstream and downstream of Luleå and Umeå wastewater treatment plants. No statistically significant differences were observed in the upstream and downstream data for Söderhamn and Skellefteå. This suggest that better management and mitigation of nutrient loading from wastewater treatment plants that serve higher populations is paramount to achieve the zero-eutrophication goal in the Gulf of Bothnia.

Passenger traffic for train journeys has been limited in northern Sweden due to the fact that the railway has mainly been used in industrial business. The establishment of Botniabanan enabled passenger traffic by train and created a train connection between the cities in the region. A continuation of Botniabanan quickly began to be planned so that the railway would continue along the Norrland coast, and the so-called Norrbotniabanan came into being. Today, northern Norrland is also facing one of the largest industrial investments in Sweden's history, which will require an increased workforce and supply of skills. In order to meet the demand for labor, Norrbotniabanan can provide a good opportunity for increased work commuting. An efficient and improved transport supply can in turn increase work commuting without people having to move to work. This in turn can create regional enlargement.  The purpose of the study is to investigate and analyze the effects Botniabanan had on commuting and further analyze and compare these with the effects that can be expected to occur with commuting through the establishment of Norrbotniabanan. The study is based on predictions about Norrbotniabanan and whether these can be expected to be achieved. This is then compared with whether the expected effects of Botniabanan were fulfilled. The establishment of Norrbotniabanan is then presented in a context of regional enlargement. The study has been carried out based on a quantitative method by processing quantitative data (register data) as well as carrying out literature studies and content analysis.  The study found that commuting has increased since the establishment of Botniabanan and that commuting mostly increased to Umeå municipality but also to Kramfors, which may be due to the municipality not belonging to Umeå's area of influence. In relation to this, commuting can be expected to increase with the establishment of Norrbotniabanan and in the same way that commuting mainly takes place to the larger municipalities such as Umeå, Luleå and Skellefteå. In order for Norrbotniabanan to achieve a greater increase in commuting than Botniabanan, the travel times need to be well planned. Provided that Norrbotniabanan has taken into account the reasons why the journey times for Botniabanan were not achieved, Norrbotniabanan has a good opportunity for a greater increase in commuting. Botniabanan can be declared to have achieved a regional enlargement, which Norrbotniabanan also makes possible. With the industrial investments in northern Sweden, Norrbotniabanan can create a stronger regional expansion than what Botniabanan did.

The global carbon cycle is subject to intense research, where sources and sinks for greenhouse gases, carbon dioxide in particular, are estimated for various systems and biomes. Lakes have previously been neglected in carbon balance estimations, but have recently been recognized to be significant net sources of CO2. This thesis estimates emission of carbon dioxide (CO2) from boreal lakes and factors regulating the CO2 saturation from field measurements of CO2 concentration along with a number of chemical, biological and physical parameters. Concentration of dissolved organic carbon (DOC) was found to be the most important factor for CO2 saturation in lake water, whereas climatic parameters such as precipitation, temperature and global radiation were less influential. All lakes were supersaturated with and, thus, sources of CO2. Sediment incubation experiments indicated that in-lake mineralization processes during summer stratification mainly occurred in the pelagial. Approximately 10% of the CO2 emitted from the lake surface was produced in epilimnetic sediments. The mineralization of DOC and emission of CO2 from freshwaters was calculated on a catchment basis for almost 80,000 lakes and 21 major catchments in Sweden, together with rates of sedimentation in lakes and export of organic carbon to the sea. The total export of terrestrial organic carbon to freshwaters could thereby be estimated and consequently also the importance of lakes for the withdrawal of organic carbon export from terrestrial sources to the sea. Lakes removed 30-80% of imported terrestrial organic carbon, and mineralization and CO2 emission were much more important than sedimentation of carbon. The carbon loss was closely related to water retention time, where catchments with short residence times (&lt;1 year) had low carbon retentions, whereas in catchments with long residence times (&gt;3 years) a majority of the imported TOC was removed in the lake systems. The Gulf of Bothnia was also studied in this thesis and found to be a net heterotrophic system, emitting large amounts of CO2 to the atmosphere on an annual basis. The rate of CO2 emission was depending on the balance between primary production and bacterial respiration, and the system was oscillating between being a source and a sink of CO2.

<p>The brackish Baltic Sea is a marginal environment for both marine and freshwater species. The rate of ecological differentiation is presumably high due to strong selection pressure from a gradient of decreasing salinity that has been present in its current state for only about 3 000 years. Even more recently, increased nutrient loading due to human activities has affected the growth rate of species, with potential effects on their competitive interactions and responses to other regulating factors. I have investigated the potential effects of low salinity and nutrient enrichment on the distributional ranges of two marine macroalgae with a wide distribution in the Baltic Sea, the red alga <i>Ceramium tenuicorne</i> (Kütz.) Wærn and the brown alga <i>Fucus vesiculosus</i> L. </p><p>A field study in the northern Baltic Sea indicated a strong relationship between the community structure of macroalgae and abiotic factors even on a small, local scale. The abiotic factors are potentially modulated by eutrophication, which may have a strong effect on the depth distribution and abundance of macroalgae. On a regional scale, laboratory experiments suggested that nutrient enrichment is unlikely to affect the distribution of <i>Ceramium</i> and <i>Fucus</i> along the salinity gradient. Growth in <i>Ceramium</i> from the Baltic Proper was enhanced by nitrate and phosphate, but the response did not override growth constraints due to low salinity. <i>Ceramium</i> from the Gulf of Bothnia had an inherently lower growth rate that was not positively affected by nitrate and phosphate increase. In <i>Fucus vesiculosus</i>, reproductive performance was impaired by nitrate and phosphate levels corresponding to ambient levels in eutrophicated areas of the Baltic Sea, when measured by their effect on zygote attachment, germination, and rhizoid development.</p><p>The wide distribution of <i>Ceramium</i> in the inner Baltic Sea is probably related to local adaptation, rather than a generalized tolerance of different salinity levels. Ecotypic differences were observed when comparing strains from the Baltic Proper (salinity 7 psu) and the Gulf of Bothnia (4 psu). A high rate of vegetative reproduction was evident, although sexual reproduction was occasionally observed in salinity 4. In <i>Fucus vesiculosus</i>, genetic and morphological analyses of sympatric and allopatric populations of the common, vesicular, morphotype and a dwarf morphotype, characteristic for the Gulf of Bothnia, showed that the dwarf morphotype represents a separate evolutionary lineage. Also, vegetative reproduction was observed in <i>Fucus</i> for the first time, as supported by genetic and experimental data. </p><p>The results show that the biota of the inner Baltic Sea may have unique adaptive and genetic properties, and that it is highly relevant to consider subspecies diversity in Baltic Sea management.</p>