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Hatchery-reared Atlantic salmon parr and smolts are regularly released into the River Kymijoki, Southern Finland, to enhance the local river and coastal fisheries. In 1988–1994, a series of micro- and Carlin-tagging experiments were carried out to examine the influence of stocking age on the stocking results. Five age groups were compared: 1-year and 2-year-old smolts, and 1-summer, 1-year and 2-summer-old parr. The aim was to determine the most profitable way of producing salmon for fishing in the River Kymijoki. Stocking age had a strong influence on the stocking results, measured as the proportion of adult recoveries. The most favourable results were obtained using 2-year-old smolts (survival index 100), followed by 1-year-old smolts (52), 2-summer-old parr (51), 1-year-old parr (37) and 1-summer-old parr (24). Available data on rearing costs suggest that 2-year-old smolts were also the most economically profitable choice, followed by 1-year-old parr, 1-year-old smolts and 1-summer-old parr. The most expensive way of producing salmon was by stocking 2-summer-old parr. [ABSTRACT FROM AUTHOR]

Background: Tonsillectomy is an effective treatment option for obstructive sleep apnoea in selected adult patients, but there has been a lack of long-term follow-up data., Objectives: To analyse the long-term outcomes of extracapsular tonsillectomy in the treatment of obstructive sleep apnoea in adults, with the longest follow-up periods to date., Materials and Methods: We recruited adults who had undergone extracapsular tonsillectomy because of obstructive sleep apnoea between 2004 and 2018 in the Hospital District of Southwest Finland. A new home sleep study, questionnaires, and a structured phone interview were conducted on these patients 4-17 years after surgical treatment. The primary outcome was the change in the apnoea-hypopnoea index., Results: The mean apnoea-hypopnoea index was reduced from 27.1 preoperatively to 14.1 after the long-term follow-up (mean 12 years), and the mean Epworth Sleepiness Scale score decreased from 9.2 to 4.6. The long-term surgical success rate was 38.5%. Four out of five patients would choose the surgery again according to the phone interview., Conclusions and Significance: This study supports the notion that extracapsular tonsillectomy alone can be considered as a surgical treatment option for selected adults with obstructive sleep apnoea and tonsillar hypertrophy. For most of the patients, the obstructive sleep apnoea is alleviated.

The paper presents a novel technique for quantifying trace metals in aerosol samples in real time. Airborne metals were continuously collected for one week near the Baltic Sea in Finland using a particle-into-liquid sampler (PILS). The collected liquid samples were analyzed for metals using micro-discharge optical emission spectroscopy (µDOES). The micro-discharge analyzer is designed to perform real-time, on-site measurements of metal concentrations in aqueous solutions. Currently, µDOES can provide online measurements of 30 metals, with typical detection limits from 0.01 µg/m 3 to 0.06 µg/m 3 with a long-term repeatability less than 5%. The novelty of this analyzer lies in its compact design, rapid detection capabilities, and ease of operation and maintenance. Several metals, including potassium (K), calcium (Ca), sodium (Na), aluminum (Al), magnesium (Mg), and copper (Cu), were measured in the aerosol samples collected using PILS. The results indicate that this approach has significant potential for future automated online monitoring of airborne metal concentrations, facilitating investigations into their sources and daily variations. The development of real-time technologies for rapid, online, and accurate atmospheric aerosol measurements is essential for advancing climate change research. Such advancements allowing for continuous real-time data enhance our understanding of aerosol dynamics, improve source identification, and inform public health and environmental policies, ultimately contributing to more effective climate change monitoring and mitigation., (© 2024. The Author(s).)

Obesity is associated with changes in the plasma lipids. Although simple lipid quantification is routinely used, plasma lipids are rarely investigated at the level of individual molecules. We aimed at predicting different measures of obesity based on the plasma lipidome in a large population cohort using advanced machine learning modeling. A total of 1,061 participants of the FINRISK 2012 population cohort were randomly chosen, and the levels of 183 plasma lipid species were measured in a novel mass spectrometric shotgun approach. Multiple machine intelligence models were trained to predict obesity estimates, i.e., body mass index (BMI), waist circumference (WC), waist-hip ratio (WHR), and body fat percentage (BFP), and validated in 250 randomly chosen participants of the Malmö Diet and Cancer Cardiovascular Cohort (MDC-CC). Comparison of the different models revealed that the lipidome predicted BFP the best (R2 = 0.73), based on a Lasso model. In this model, the strongest positive and the strongest negative predictor were sphingomyelin molecules, which differ by only 1 double bond, implying the involvement of an unknown desaturase in obesity-related aberrations of lipid metabolism. Moreover, we used this regression to probe the clinically relevant information contained in the plasma lipidome and found that the plasma lipidome also contains information about body fat distribution, because WHR (R2 = 0.65) was predicted more accurately than BMI (R2 = 0.47). These modeling results required full resolution of the lipidome to lipid species level, and the predicting set of biomarkers had to be sufficiently large. The power of the lipidomics association was demonstrated by the finding that the addition of routine clinical laboratory variables, e.g., high-density lipoprotein (HDL)- or low-density lipoprotein (LDL)- cholesterol did not improve the model further. Correlation analyses of the individual lipid species, controlled for age and separated by sex, underscores the multiparametric and lipid species-specific nature of the correlation with the BFP. Lipidomic measurements in combination with machine intelligence modeling contain rich information about body fat amount and distribution beyond traditional clinical assays., Competing Interests: I have read the journal's policy and the authors of this manuscript have the following competing interests: KS is CEO of Lipotype GmbH. KS, CK and MS are shareholders of Lipotype GmbH. MJG is employee of Lipotype GmbH. VS has participated in a conference trip sponsored by Novo Nordisk and received an honorarium from the same source for participating in an advisory board meeting. He also has ongoing research collaboration with Bayer Ltd.

The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date., (Copyright © 2011 Elsevier Inc. All rights reserved.)

The Finnish disease heritage refers to rare hereditary diseases that occur in the Finnish population in a relatively larger proportion than in other populations. The genes underlying all of the 36 diseases of the disease heritage have been identified. Together with her group and collaborators, Leena Palotie identified 15 of these, and this review includes the description of some of these achievements. As a result of the so-called founder effect, one predominant mutation underlying these diseases occurs in our population, facilitating the diagnostics of these diseases in our country.

Aspartylglucosaminidase (AGA) is a lysosomal enzyme, the deficiency in which leads to human storage disease aspartylglucosaminuria (AGU). AGUFin is the most common AGU mutation in the world and is found in 98% of AGU alleles in Finland, where the population displays enrichment of the disease allele. The AGUFin allele actually contains a double mutation, both individual mutations resulting in amino acid substitutions: Arg-161-->Gln and Cys-163-->Ser. The separate consequences of these two amino acid substitutions for the intracellular processing of the AGA polypeptides were analyzed using a stable expression of mutant polypeptides in Chinese hamster ovary (CHO) cells. The synthesized polypeptides were monitored by metabolic labeling, followed by immunoprecipitation, immunofluorescence, and immunoelectron microscopy. The Arg-161-->Gln substitution did not affect the intracellular processing or transport of AGA and the fully active enzyme was correctly targeted to lysosomes. The Cys-163-->Ser substitution prevented the early proteolytic cleavage required for the activation of the precursor AGA polypeptide and the inactive enzyme was accumulated in the endoplasmic reticulum (ER). The precursors of the translation products of the AGUFin double mutant and the Cys-163-->Ser mutant were also observed in the culture medium. When cells expressing the normal AGA or AGUFin double mutation were treated with DTT to prevent the formation of disulfide bonds, both normal and mutated AGA polypeptides remained in the inactive precursor form and were not secreted into the medium. These results indicate that correct initial folding is essential for the proteolytic activation of AGA.(ABSTRACT TRUNCATED AT 250 WORDS)

Aspartylglucosaminuria (AGU) is exceptional among lysosomal storage diseases since it represents the only known amidase deficiency in man, being caused by an inadequate function of aspartylglucosaminidase (AGA, E.C. 3.5.1.26.). This amidase is essential in one of the final steps in the ordered breakdown of glycoproteins since it cleaves Asn from the residual N-acetylglucosamines (for reviews see 1, 2). The deficiency of the enzyme activity results in the typical lysosomal accumulation of the abnormal degradation products (mainly aspartylglucosamine, 2-acetamido-1-beta-L-aspartamido-1,2-dideoxyglucose) in patients' cells and tissues. The diagnosis of AGU has so far been based on the detection of abnormal metabolites in urine and decreased enzyme activity in the cultured fibroblasts or isolated lymphocytes. Prenatal diagnosis has been possible by demonstrating the deficient enzyme activity of amniocytes or chorion villus biopsies. Identification of carriers has been difficult and unreliable due to the high individual variation in AGA activity and prerequisite for isolated blood lymphocytes. During the past few years we have purified the human enzyme into homogeneity, isolated the full length cDNA and characterized the majority of AGU mutations in this cDNA. This work facilitated the development of a reliable DNA diagnostic test suitable also for large scale carrier screening. The molecular pathology of the most common AGU mutation was unravelled, this being a prerequisite for the oncoming developments for therapy. Although AGU is a relatively rare disease, characterization of the AGU mutations and their cellular consequences have revealed highly interesting new phenomena in the biosynthesis of this lysosomal enzyme, some of which carry general biological significance.(ABSTRACT TRUNCATED AT 250 WORDS)

Huntington disease (HD) is found at exceptionally low frequency in the Finnish population. In this population, linkage disequilibrium was earlier established with markers from the D4S10 and D4S43 loci. We now report a continuation to the restriction fragment length polymorphism haplotype analysis, in combination with a genealogical study of all the Finnish HD families. When the HD pedigrees were systematically traced to the 18th century, only one consanguinity was found, and a high percentage (28%) of the families had foreign ancestors. The majority of the Finnish ancestors were localized to border regions or trade centers of the country following the old postal routes. The observed high risk haplotypes formed with markers from the D4S10 and D4S43 loci were evenly distributed among the HD families in different geographical locations. Consequently, the HD gene(s) has most probably arrived in Finland on several occasions via foreign immigrants during the last few centuries.

The question about heterogeneity of Huntington disease (HD) at the DNA level can be approached by analyzing the RFLP haplotypes formed by several RFLP loci of the diseased chromosome in different populations. In genetically isolated populations such as Finland, it is further possible to use this approach to test the hypothesis of a single mutation enriched in this population demonstrating an exceptionally low prevalence of HD. In this study covering 70% of all diagnosed HD cases in Finland, linkage disequilibrium of RFLP haplotypes of D4S10 and D4S43 loci polymorphisms was found. This phenomenon, not so far reported in any other population, could support the hypothesis of one ancestor HD mutation in the Finnish population. Despite the lower heterozygosity obtained with some RFLP markers, the proportion of individuals receiving informative DNA test results did not significantly differ from that reported in more mixed populations. In one HD family we established a recombination event between HD and the D4S43 locus, an event which can be highly useful in the more precise mapping of the HD gene.