Profiling the Adventure Tourist : Case Study New Zealand

Adventure tourism is a branch of tourism industry, which is rapidly growing around the world. In Finland this tourism branch is, however, rather undeveloped even though potential for this tourism segment exists. The aim of this survey was to form a general, psychological profile of the adventure tourists and identify the best marketing tools for them. This framework could further be implemented into developing adventure tourism in Finland and also as a reference in other, more specified researches of the adventure tourism field. Because the adventure tourism segment in Finland was insufficient for the survey it was conducted in New Zealand. The survey was implemented by using interviews and observations by the writers of this thesis to gather qualitative data. The data was voice-recorded by phone and then transcribed into a literal, academic form. The data was then analyzed through theoretical framework, which was established prior to the implementation of the survey. The results were then converted into a comprehensive analysis of the subject. The results of the survey depict a profile of the adventure tourist containing demographical, psychological, social and cultural factors. Based on the profile the thesis also includes the most effective marketing tools and approaches for this tourism segment. The writers of the thesis, however, prompt further studies on this specific tourism segment, which could one day be a significant source of income for Finland’s economy

Keliakia-alttiuden molekyyligeneettisiä tutkimuksia perhe- ja väestöaineistoissa

Celiac disease, or gluten intolerance, is triggered by dietary glutens in genetically susceptible individuals and it affects approximately 1% of the Caucasian population. The best known genetic risk factors for celiac disease are HLA DQ2 and DQ8 heterodimers, which are necessary for the development of the disease. However, they alone are not sufficient for disease induction, other risk factors are required. This thesis investigated genetic factors for celiac disease, concentrating on susceptibility loci on chromosomes 5q31-q33, 19p13 and 2q12 previously reported in genome-wide linkage and association studies. In addition, a novel genotyping method for the detection of HLA DQ2 and DQ8 coding haplotypes was validated. This study was conducted using Finnish and Hungarian family materials, and Finnish, Hungarian and Italian case-control materials. Genetic linkage and association were analysed in these materials using candidate gene and fine-mapping approaches. The results confirmed linkage to celiac disease on the chromosomal regions 5q31-q33 and 19p13. Fine-mapping on chromosome 5q31-q33 revealed several modest associations in the region, and highlighted the need for further investigations to locate the causal risk variants. The MYO9B gene on chromosome 19p13 showed evidence for linkage and association particularly with dermatitis herpetiformis, the skin manifestation of celiac disease. This implies a potential difference in the genetic background of the intestinal and skin forms of the disease, although studies on larger samplesets are required. The IL18RAP locus on chromosome 2q12, shown to be associated with celiac disease in a previous genome-wide association study and a subsequent follow-up, showed association in the Hungarian population in this study. The expression of IL18RAP was further investigated in small intestinal tissue and in peripheral blood mononuclear cells. The results showed that IL18RAP is expressed in the relevant tissues. Two putative isoforms of IL18RAP were detected by Western blot analysis, and the results suggested that the ratios and total levels of these isoforms may contribute to the aetiology of celiac disease. A novel genotyping method for celiac disease-associated HLA haplotypes was also validated in this thesis. The method utilises single-nucleotide polymorphisms tagging these HLA haplotypes with high sensitivity and specificity. Our results suggest that this method is transferable between populations, and it is suitable for large-scale analysis. In conclusion, this doctorate study provides an insight into the roles of the 5q31-q33, MYO9B, IL18RAP and HLA loci in the susceptibility to celiac disease in the Finnish, Hungarian and Italian populations, highlighting the need for further studies at these genetic loci and examination of the function of the candidate genes.Keliakia on ravinnon vehnän ohran ja rukiin sisältämän gluteenin aiheuttama ohutsuolen tulehdus, jolla on autoimmuunitaudin piirteitä. Keliakiaa sairastaa noin joka sadas suomalainen, mutta suurella osalla tauti esiintyy piilevänä. Taudin ainoa hoitokeino on täysin gluteeniton ruokavalio. Alttius sairastua keliakiaan on perinnöllistä. Lähes kaikki potilaat kantavat HLA-DQ2 tai -DQ8 kudosantigeenejä, joilla on keskeinen rooli taudin synnyssä. Nämä kudosantigeenit ovat kuitenkin yleisiä myös terveessä väestössä, ja useat tutkimukset osoittavat että tämän monitekijätaudin puhkeamiseen tarvitaan myös muita perinnöllisiä alttiustekijöitä. Suuri osa keliakialle altistavista perintötekijöistä on vielä löytymättä, ja niiden selvittäminen onkin tällä hetkellä laajojen tutkimusten kohteena. -- Tämän väitöskirjatyön tavoitteena oli tutkia keliakialle altistavia perintötekijöitä suomalaisessa, unkarilaisessa ja pohjoisitalialaisessa väestössä. Tutkimuksessa käytettiin perhe- ja potilasaineistoja, ja niissä keskityttiin jo tunnettujen keliakialle altistavien kromosomialueiden tarkempaan seulontaan, sekä aikaisemmin julkaistujen tutkimustuloksen varmistamiseen. Tuloksemme vahvistivat, että kromosomissa 5q31-q33 sijaitsee keliakialle altistavia geenimuotoja, mutta vielä tarkempia tutkimuksia tarvitaan näiden geenimuotojen tunnistamiseksi. Tutkimustuloksemme vahvistivat myös, että kromosomialueella 19p13 sijaitsee keliakialle altistavia geenimuotoja. Tässä kromosomissa sijaitsevan MYO9B-geenin polymorfioiden on aikaisemmin havaittu altistavan keliakialle hollantilaisessa väestössä. Omat tuloksemme eivät kuitenkaan tukeneet tätä löydöstä laajoissa potilasaineistoissamme. Sen sijaan huomasimme, että MYO9B-polymorfiat saattavat altistaa erityisesti ihokeliakialle. Väitöskirjatyössä tutkittiin myös kromosomissa 2q12 sijaitsevan IL18RAP-geenin ja keliakian välistä yhteyttä. Alun perin IL18RAP-geenin ja keliakian välinen yhteys löydettiin laajassa isobritannialaisessa tutkimuksessa, jossa seulottiin koko genomi uusien keliakian alttiusgeenien löytämiseksi. Omat tuloksemme tukivat tätä löydöstä. Lisäksi tuloksemme vahvistivat, että IL18RAP-geeni ilmentyy keliakian synnyn kannalta merkittävissä kudoksissa, kuten ohutsuolessa ja immuunivasteen kannalta tärkeissä veren mononukleaarisissa soluissa. Tässä väitöskirjatyössä validoitiin myös uusi tutkimusmenetelmä, jonka avulla on mahdollista selvittää keliakialle altistavien HLA-kudosantigeenien kantajuus. Menetelmän etuna muihin vastaaviin menetelmiin verrattuna on taloudellisuus ja helppokäyttöisyys. Tuloksemme vahvistivat, että menetelmä soveltuu näiden geenimuotojen seulontatutkimuksiin laajoissa Euroopan eri väestöistä peräisin olevissa aineistoissa

Anaemia and enhancement of coagulation are associated with severe COVID-19 infection

Coagulation disturbances are common in severe COVID-19 infection. We examined laboratory markers in COVID-19 patients during the first wave of the pandemic in Finland. We analysed a wide panel of coagulation tests (IL ACL TOP 750/500) from anonymously collected samples of 78 hospitalized COVID-19 patients in intensive care units (ICUs; n = 34) or medical wards (n = 44) at Helsinki University Hospital in April-May 2020. These coagulation data were supplemented with the laboratory information system results, including complete blood count and C reactive protein (CRP). Coagulation and inflammatory markers were elevated in most: FVIII in 52%, fibrinogen 77%, D-dimer 74%, CRP 94%, platelet count 37%. Anaemia was common, especially in men (73% vs. 44% in women), and overall weakly correlated with FVIII (women R-2 = 0.48, men R-2 = 0.24). ICU patients had higher fibrinogen and D-dimer levels (p < .01). Men admitted to the ICU also had higher platelet count, leukocytes and FVIII and lower haemoglobin than the non-ICU patients. None of the patients met the disseminated intravascular coagulation (DIC) criteria, but 31% had a D-dimer level of at least 1.5 mg/L. Presence of both anaemia and high D-dimer together with FVIII is independently associated with ICU admission. Antithrombin was reduced in 47% of the patients but did not distinguish severity. Overall, CRP was associated with coagulation activation. Elevated FVIII, fibrinogen and D-dimer reflected a strong inflammatory response and were characteristic of hospitalized COVID-19 patients. The patients were often anaemic, as is typical in severe inflammation, while anaemia was also associated with coagulation activity.Peer reviewe

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

Background Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. Methods We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. Results Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. Conclusion Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated.BioMed Central Open acces

Associations of subjective and objective cognitive functioning after COVID-19 : A six-month follow-up of ICU, ward, and home-isolated patients

Publisher Copyright: © 2023 The AuthorsBackground: Subjective and objective cognitive dysfunction are reported after COVID-19 but with limited data on their congruence and associations with the severity of the acute disease. The aim of this cohort study is to describe the prevalence of subjective and objective cognitive dysfunction at three and six months after COVID-19 and the associations of subjective cognitive symptoms and psychological and disease-related factors. Methods: We assessed a cohort of 184 patients at three and six months after COVID-19: 82 patients admitted to the Intensive Care Unit (ICU), 53 admitted to regular hospital wards, and 49 isolated at home. A non-COVID control group of 53 individuals was included. Demographic and clinical data were collected. Subjective cognitive symptoms, objective cognitive impairment, and depressive and post-traumatic stress disorder (PTSD) symptoms were assessed. Results: At six months, subjective cognitive impairment was reported by 32.3% of ICU-treated, 37.3% of ward-treated, and 33.3% of home-isolated patients and objective cognitive impairment was observed in 36.1% of ICU-treated, 34.7% of ward-treated, and 8.9% of home-isolated patients. Subjective cognitive symptoms were associated with depressive and PTSD symptoms and female sex, but not with objective cognitive assessment or hospital metrics. Conclusions: One-third of COVID-19 patients, regardless of the acute disease severity, reported high levels of subjective cognitive dysfunction which was not associated with results from objective cognitive screening but with psychological and demographic factors. Our study stresses the importance of thorough assessment of patients reporting long-term subjective symptoms, screening for underlying mental health related factors such as PTSD or depression.Peer reviewe

The Psoriasis Risk Allele HLA-C*06 : 02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis

Pharyngeal tonsillitis is one of the most common upper respiratory tract infections, and group A streptococcus is the most important bacterial pathogen causing it. While most patients experience tonsillitis only rarely, a subset of patients suffers from recurrent or chronic tonsillitis or pharyngitis. The predisposing factors for recurring or chronic forms of this disease are not yet fully understood, but genetic predisposition has been suggested. A genetic association study using Illumina's Immunochip single-nucleotide polymorphism (SNP) array was performed to search for new genetic biomarkers in pharyngeal tonsillitis. More than 100,000 SNPs relevant to immune-mediated diseases were analyzed in a cohort of 95 patients subjected to tonsillectomy due to recurrent/chronic tonsillitis and 504 controls. Genetic association between the cases and controls showed strongest association with two peaks in the HLA locus (odds ratio [OR], 3.7 to 4.7; P = 4.9 x 10(-6) to 5.7 x 10(-6)). Further analysis with imputed classical HLA alleles suggested the known psoriasis risk allele HLA-C*06:02 as a risk factor for tonsillitis (P = 4.8 x 10(-4); OR, 2.3). In addition, the imputed HLA haplotype HLA-C*06:02/HLA-B*57:01, a reported risk haplotype in psoriasis, had the strongest risk for tonsillitis (P = 3.2 x 10(-4); OR, 6.5). These findings further support the previously reported link between streptococcal throat infections and psoriasis.Peer reviewe

Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes

The phenotype of coeliac disease varies considerably for incompletely understood reasons. We investigated whether established coeliac disease susceptibility variants (SNPs) are individually or cumulatively associated with distinct phenotypes. We also tested whether a polygenic risk score (PRS) based on genome-wide associated (GWA) data could explain the phenotypic variation. The phenotypic association of 39 non-HLA coeliac disease SNPs was tested in 625 thoroughly phenotyped coeliac disease patients and 1817 controls. To assess their cumulative effects a weighted genetic risk score (wGRS39) was built, and stratified by tertiles. In our PRS model in cases, we took the summary statistics from the largest GWA study in coeliac disease and tested their association at eight P value thresholds (P-T) with phenotypes. Altogether ten SNPs were associated with distinct phenotypes after correction for multiple testing (P-EMP2 1.62 for having coeliac disease-related symptoms during childhood, a more severe small bowel mucosal damage, malabsorption and anaemia. PRS was associated only with dermatitis herpetiformis (P-T = 0.2, P-EMP2 = 0.02). Independent coeliac disease-susceptibility loci are associated with distinct phenotypes, suggesting that genetic factors play a role in determining the disease presentation. Moreover, the increased number of coeliac disease susceptibility SNPs might predispose to a more severe disease course.Peer reviewe