Mitochondrial disease in Southwestern Finland. Population-based molecular genetic and clinical studies

Mitochondria are present in all eukaryotic cells. They enable these cells utilize oxygen in the production of adenosine triphosphate in the oxidative phosphorylation system, the mitochondrial respiratory chain. The concept ‘mitochondrial disease’ conventionally refers to disorders of the respiratory chain that lead to oxidative phosphorylation defect. Mitochondrial disease in humans can present at any age, and practically in any organ system. Mitochondrial disease can be inherited in maternal, autosomal dominant, autosomal recessive, or X-chromosomal fashion. One of the most common molecular etiologies of mitochondrial disease in population is the m.3243A>G mutation in the MT-TL1 gene, encoding mitochondrial tRNALeu(UUR). Clinical evaluation of patients with m.3243A>G has revealed various typical clinical features, such as stroke-like episodes, diabetes mellitus and sensorineural hearing loss. The prevalence and clinical characteristics of mitochondrial disease in population are not well known. This thesis consists of a series of studies, in which the prevalence and characteristics of mitochondrial disease in the adult population of Southwestern Finland were assessed. Mitochondrial haplogroup Uk was associated with increased risk of occipital ischemic stroke among young women. Large-scale mitochondrial DNA deletions and mutations of the POLG1 gene were the most common molecular etiologies of progressive external ophthalmoplegia. Around 1% of diabetes mellitus emerging between the ages 18 – 45 years was associated with the m.3243A>G mutation. Moreover, among these young diabetic patients, mitochondrial haplogroup U was associated with maternal family history of diabetes. These studies demonstrate the usefulness of carefully planned molecular epidemiological investigations in the study of mitochondrial disorders.

Home Blood Pressure Measurement – Epidemiology and Clinical Application

Verenpaineen kotimittaus − epidemiologia ja kliininen käyttö Kohonnutta verenpainetta, maailmanlaajuisesti merkittävintä ennenaikaiselle kuolemalle altistavaa riskitekijää, ei voida tunnistaa tai hoitaa ilman tarkkoja ja käytännöllisiä verenpaineen mittausmenetelmiä. Verenpaineen kotimittaus on saavuttanut suuren suosion potilaiden keskuudessa. Lääkärit eivät ole kuitenkaan vielä täysin hyväksyneet verenpaineen kotimittausta, sillä riittävä todistusaineisto sen toimivuudesta ja eduista on puuttunut. Tämän tutkimuksen tarkoituksena oli osoittaa, että kotona mitattu verenpaine (kotipaine) on perinteistä vastaanotolla mitattua verenpainetta (vastaanottopaine) tarkempi, ja että se on tehokas myös kliinisessä käytössä. Tutkimme kotipaineen käyttöä verenpainetaudin diagnosoinnissa ja hoidossa. Lisäksi tarkastelimme kotipaineen yhteyttä verenpainetaudin aiheuttamiin kohde-elinvaurioihin. Ensimmäinen aineisto, joka oli edustava otos Suomen aikuisväestöstä, koostui 2 120 45–74-vuotiaasta tutkimushenkilöstä. Tutkittavat mittasivat kotipainettaan viikon ajan ja osallistuivat terveystarkastukseen, johon sisältyi kliinisen tutkimuksen ja haastattelun lisäksi sydänfilmin otto ja vastaanottopaineen mittaus. 758 tutkittavalle suoritettiin lisäksi kaulavaltimon seinämän intima-mediakerroksen paksuuden (valtimonkovettumataudin mittari) mittaus ja 237:lle valtimon pulssiaallon nopeuden (valtimojäykkyyden mittari) mittaus. Toisessa aineistossa, joka koostui 98 verenpainetautia sairastavasta potilaasta, hoitoa ohjattiin satunnaistamisesta riippuen joko ambulatorisen eli vuorokausirekisteröinnillä mitatun verenpaineen tai kotipaineen perusteella. Vastaanottopaine oli kotipainetta merkittävästi korkeampi (systolisen/diastolisen paineen keskiarvoero oli 8/3 mmHg) ja yksimielisyys verenpainetaudin diagnoosissa kahden menetelmän välillä oli korkeintaan kohtalainen (75 %). 593 tutkittavasta, joilla oli kohonnut verenpaine vastaanotolla, 38 %:lla oli normaali verenpaine kotona eli ns. valkotakkiverenpaine. Verenpainetauti voidaan siis ylidiagnosoida joka kolmannella potilaalla seulontatilanteessa. Valkotakkiverenpaine oli yhteydessä lievästi kohonneeseen verenpaineeseen, matalaan painoindeksiin ja tupakoimattomuuteen, muttei psykiatriseen sairastavuuteen. Valkotakkiverenpaine ei kuitenkaan vaikuttaisi olevan täysin vaaraton ilmiö ja voi ennustaa tulevaa verenpainetautia, sillä siitä kärsivien sydän- ja verisuonitautien riskitekijäprofiili oli normaalipaineisten ja todellisten verenpainetautisten riskitekijäprofiilien välissä. Kotipaineella oli vastaanottopainetta vahvempi yhteys verenpainetaudin aiheuttamiin kohde-elinvaurioihin (intima-mediakerroksen paksuus, pulssiaallon nopeus ja sydänfilmistä todettu vasemman kammion suureneminen). Kotipaine oli tehokas verenpainetaudin hoidon ohjaaja, sillä kotipaineeseen ja ambulatoriseen paineeseen, jota on pidetty verenpainemittauksen ”kultaisena standardina”, perustuva lääkehoidon ohjaus johti yhtä hyvään verenpaineen hallintaan. Tämän ja aikaisempien tutkimusten tulosten pohjalta voidaan todeta, että verenpaineen kotimittaus on selkeä parannus perinteiseen vastaanotolla tapahtuvaan verenpainemittaukseen verrattuna. Verenpaineen kotimittaus on käytännöllinen, tarkka ja laajasti saatavilla oleva menetelmä, josta voi tulla jopa ensisijainen vaihtoehto verenpainetautia diagnosoitaessa ja hoitaessa. Verenpaineen mittauskäytäntöön tarvitaan muutos, sillä näyttöön perustuvan lääketieteen perusteella vaikuttaa, että vastaanotolla tapahtuvaa verenpainemittausta tulisi käyttää vain seulontatarkoitukseen.

Social Solidarity and Fear of Crime - Community and Individual Approaches in Responses to Mass Violence after School Shootings

The aim of this study was to examine community and individual approaches in responses to mass violence after the school shooting incidents in Jokela (November 2007) and Kauhajoki (September 2008), Finland. In considering the community approach, responses to any shocking criminal event may have integrative, as well as disintegrative effects, within the neighborhood. The integration perspective argues that a heinous criminal event within one’s community is a matter of offence to collectively held feelings and beliefs, and increases perceived solidarity; whereas the disintegration perspective suggests that a criminal event weakens the social fabric of community life by increasing fear of crime and mistrust among locals. In considering the individual approach, socio-demographic factors, such as one’s gender, are typically significant indicators, which explain variation in fear of crime. Beyond this, people are not equally exposed to violent crime and therefore prior victimization and event related experiences may further explain why people differ in their sensitivity to risk from mass violence. Finally, factors related to subjective mental health, such as depressed mood, are also likely to moderate individual differences in responses to mass violence. This study is based on the correlational design of four independent cross-sectional postal surveys. The sampling frames (N=700) for the surveys were the Finnish speaking adult population aged 18–74-years. The first mail survey in Jokela (n=330) was conducted between May and June 2008, approximately six months from the shooting incident at the local high-school. The second Jokela survey (n=278) was conducted in May–June of 2009, 18 months removed from the incident. The first survey in Kauhajoki (n=319) was collected six months after the incident at the local University of Applied Sciences, March– April 2009, and the second (n=339) in March–April 2010, approximately 18 months after the event. Linear and ordinal regression and path analysis are used as methods of analyses. The school shootings in Jokela and Kauhajoki were extremely disturbing events, which deeply affected the communities involved. However, based on the results collected, community responses to mass violence between the two localities were different. An increase in social solidarity appears to apply in the case of the Jokela community, but not in the case of the Kauhajoki community. Thus a criminal event does not necessarily impact the wider community. Every empirical finding is most likely related to different contextual and event-specific factors. Beyond this, community responses to mass violence in Jokela also indicated that the incident was related to a more general sense of insecurity and was also associating with perceived community deterioration and further suggests that responses to mass violence may have both integrating and disintegrating effects. Moreover, community responses to mass violence should also be examined in relation to broader social anxieties and as a proxy for generalized insecurity. Community response is an emotive process and incident related feelings are perhaps projected onto other identifiable concerns. However, this may open the door for social errors and, despite integrative effects, this may also have negative consequences within the neighborhood. The individual approach suggests that women are more fearful than men when a threat refers to violent crime. Young women (aged 18–34) were the most worried age and gender group as concerns perception of threat from mass violence at schools compared to young men (aged 18–34), who were also the least worried age and gender group when compared to older men. It was also found that concerns about mass violence were stronger among respondents with the lowest level of monthly household income compared to financially better-off respondents. Perhaps more importantly, responses to mass violence were affected by the emotional proximity to the event; and worry about the recurrence of school shootings was stronger among respondents who either were a parent of a school-aged child, or knew a victim. Finally, results indicate that psychological wellbeing is an important individual level factor. Respondents who expressed depressed mood consistently expressed their concerns about mass violence and community deterioration. Systematic assessments of the impact of school shooting events on communities are therefore needed. This requires the consolidation of community and individual approaches. Comparative study designs would further benefit from international collaboration across disciplines. Extreme school violence has also become a national concern and deeper understanding of crime related anxieties in contemporary Finland also requires community-based surveys.

Comparing adult-youth and adult-adult online sexual solicitation: Manipulative behaviors, situational factors, and outcomes

Online sexual solicitation (solicitation) of youth has received widespread media and research attention during the last decade. The prevalence rates of youth who have experienced solicitation or solicitation attempts vary between studies depending on the methodology used (e.g., whether youth or adults are the target study group). In studies focusing on youth victims, the prevalence of solicitation attempts made by adults during the past year is typically reported to be between 5 and 9%. Adults who solicit youth online have been found to use deception and other manipulative behaviors to gain access to sexual activities with youth. However, previous studies have lacked a control group of adults who solicit other adults online. Without this comparison, one could argue that deceiving others online about one’s identity, and engaging in manipulative behaviors, is an inherent part of most online sexual interactions with strangers. Additionally, little is known about the associations between manipulative behaviors and the solicitation outcomes. In research concerning offline sexual behaviors, it has been noted that situational factors, such as sexual arousal, may alter both sexual interest and behavior. The effects of situational factors on online sexual behaviors have been less extensively studied (especially so with a quantitative approach); no studies have to date focused on adults’ solicitation of youth. Investigating the role of a lowered sexual age preference and the role of situational factors in the soliciting adults could be an important step in order to receive deeper knowledge of the role of traits and states in the context of solicitation. Additionally, there is a lack of knowledge of the effect of the age of the youth. Although previous studies on solicitation has found that older youth, compared with younger youth and children, are more often solicited, the possible reasons for this have not been investigated. Are adults who solicit youth affected by legal deterrence (through the legal age of consent), is it because older youth are more available online, or are the adults’ age preferences merely a product of a normally distributed age preference in the population? The purpose of the present thesis was fivefold: 1) to obtain an estimate of the frequency of adults’ solicitation of youth as self-reported and observed in actual behavior; 2) to explore whether the legal age of consent (LAC) affects solicitation frequency, or whether a normally distributed sexual age preference more accurately describe the proportion of solicited youth of different ages; 3) to investigate the associations of both traits (e.g., lower sexual age preference) and states (immediate situational factors, such as alcohol intoxication), and the solicitation target; 4) to explore whether adults who solicit youth and adults who solicit adults are equally deceitful and manipulative online, and whether the different solicitation outcomes are as common in both groups; and 5) to investigate whether the deceitful and manipulative behaviors engaged in had different associations with the solicitation outcomes depending on the age of the solicited. In the survey study, a convenience sample of 1393 adult participants (aged 18 years or older) self-reported any online communication with strangers during the past year. Of these, 56% (776 respondents) reported that they had solicited or attempted to solicit at least one stranger. Of the respondents, 453 (58.4%) were men, and 323 (41.6%) were women. Participants with only adult contacts (18 years or older) constituted the majority (640 respondents). In contrast, 136 individuals reported a youth contact (a 13 year old or younger, or a 14 to 17-year old). Approximately half of the participants were men in the adult contact group, while 75% of the participants were men in the youth contact group. Approximately 60% of the participants with youth contacts were recruited from two websites associated with a pedophilic sexual interest. In an online quasi-experimental study, with researchers impersonating youth of different ages (10–18 year olds) in chat rooms, 251 online conversations with chat room visitors made up the entire sample. All chat room visitors alleged to be men. The self-reported frequency of having solicited youth (0–17-year olds) during the past year was approximately 10% in our sample of adults who reported communicating with any strangers online. When we observed this behavior in chat rooms, we found that approximately 30% of the chat room visitors who believed they interacted with a 10 to 14 year old attempted to solicit the youth. We found that solicitation attempts increased equally much when increasing the age of the impersonated youth from 14 to 16, as from 16 to 18. Thus, we concluded that a normally distributed age preference in the population was a more plausible explanation to the effect of the age of the solicited, rather than the LAC (here; 15 and 16). If the chat room visitors would have been deterred only by the LAC, we would have expected that the change in amount of solicitation attempts from an illegal age group to a legal age group would have been significantly stronger than changes between age groups within illegal-illegal and legal-legal groups. Our subsample of survey participants from the pedophilia-related websites expectedly reported that they had solicited youth more often in comparison to the sample gathered through general (i.e., not associated with any particular sexual preference) websites. We also found that participants with a youth contact reported higher levels of sexual arousal and shame before the sexual interaction with their online contact, compared with participants with an adult contact. Additionally, the participants with youth contacts who reported consumption of child- and adolescent pornography also reported being more sexually aroused before the interaction, compared to the participants with youth contacts who did not report consumption of these kinds of pornography. We also found clear indications that the online sexual interaction had an alleviatory effect on reported levels of sadness, boredom and stress, independent of the age of the contact. Generally, the participants with youth and adult contacts reported deceiving their contacts as often and suggesting keeping the communication a secret from someone as often. Participants with a youth contact, however, reported using more persuasion techniques for online sexual purposes or for the purpose of an offline meeting, compared to those with an adult contact. In the chat rooms, we found that more indirect ways of future sexual communication (e.g., continuing chatting) was suggested by the chat room visitors that were under the assumption of interacting with youth aged 10 to 14, compared with more direct means (e.g., meeting offline). Survey participants with youth contacts who had used deception, suggested keeping the interactions a secret, and/or persuaded their contact by appealing to the contacts feelings of love and attachment for the participant had also more often engaged in cybersex with the contact. No other manipulative behaviors were associated with the other investigated solicitation outcomes (receiving a sexual picture, meeting offline, and engaging in sexual contact offline) within this group of participants. However, using deception, suggesting secrecy and using persuasion was also positively associated with certain solicitation outcomes within participants with an adult contact. In summary, adults’ solicitation of youth is much more frequent when observed in chat rooms than self-reported. Additionally, an underlying lowered sexual age preference seems to be a motivating factor on a group level in adults who solicit youth. We concluded that directed prevention efforts should be made on pedophiliarelated websites. Additionally, the role of situational factors, especially sexual arousal in persons with a pedo- or hebephilic sexual interest should be investigated further in the context of online sexual solicitation.