A functional variant in the Stearoyl-CoA desaturase gene promoter enhances fatty acid desaturation in pork

There is growing public concern about reducing saturated fat intake. Stearoyl-CoA desaturase (SCD) is the lipogenic enzyme responsible for the biosynthesis of oleic acid (18:1) by desaturating stearic acid (18:0). Here we describe a total of 18 mutations in the promoter and 3′ non-coding region of the pig SCD gene and provide evidence that allele T at AY487830:g.2228T>C in the promoter region enhances fat desaturation (the ratio 18:1/18:0 in muscle increases from 3.78 to 4.43 in opposite homozygotes) without affecting fat content (18:0+18:1, intramuscular fat content, and backfat thickness). No mutations that could affect the functionality of the protein were found in the coding region. First, we proved in a purebred Duroc line that the C-T-A haplotype of the 3 single nucleotide polymorphisms (SNPs) (g.2108C>T; g.2228T>C; g.2281A>G) of the promoter region was additively associated to enhanced 18:1/18:0 both in muscle and subcutaneous fat, but not in liver. We show that this association was consistent over a 10-year period of overlapping generations and, in line with these results, that the C-T-A haplotype displayed greater SCD mRNA expression in muscle. The effect of this haplotype was validated both internally, by comparing opposite homozygote siblings, and externally, by using experimental Duroc-based crossbreds. Second, the g.2281A>G and the g.2108C>T SNPs were excluded as causative mutations using new and previously published data, restricting the causality to g.2228T>C SNP, the last source of genetic variation within the haplotype. This mutation is positioned in the core sequence of several putative transcription factor binding sites, so that there are several plausible mechanisms by which allele T enhances 18:1/18:0 and, consequently, the proportion of monounsaturated to saturated fat.

Tie Strength and Family Formation : which Personal Relationships are Influential ?

Based on the analysis of qualitative interviews in western Germany, we argue that personal relationships have a strong impact on individuals' family formation processes and fertility intentions. We identify persons who influence individuals' fertility choices. Strong ties, such as those among core family members (i.e., parents and siblings), are an important contributing factor, but we are also able to show that weak ties, such as those among colleagues, and acquaintances need to be considered when examining social influence on family formation processes. Apart from single network partners, we have identified influential groups of persons. Such groups serve as a comparative standard regarding the timing of having one's first child and subsequent children.

Health-Related Quality of Life of Young Adults Treated with Recombinant Human Growth Hormone during Childhood.

BACKGROUND: Since recombinant human growth hormone (rhGH) became available in 1985, the spectrum of indications has broadened and the number of treated patients increased. However, long-term health-related quality of life (HRQoL) after childhood rhGH treatment has rarely been documented. We assessed HRQoL and its determinants in young adults treated with rhGH during childhood. METHODOLOGY/PRINCIPAL FINDINGS: For this study, we retrospectively identified former rhGH patients in 11 centers of paediatric endocrinology, including university hospitals and private practices. We sent a questionnaire to all patients treated with rhGH for any diagnosis, who were older than 18 years, and who resided in Switzerland at time of the survey. Three hundred participants (58% of 514 eligible) returned the questionnaire. Mean age was 23 years; 56% were women; 43% had isolated growth hormone deficiency, or idiopathic short stature; 43% had associated diseases or syndromes, and 14% had growth hormone deficiency after childhood cancer. Swiss siblings of childhood cancer survivors and the German norm population served as comparison groups. HRQoL was assessed using the Short Form-36. We found that the Physical Component Summary of healthy patients with isolated growth hormone deficiency or idiopathic short stature resembled that of the control group (53.8 vs. 54.9). Patients with associated diseases or syndromes scored slightly lower (52.5), and former cancer patients scored lowest (42.6). The Mental Component Summary was similar for all groups. Lower Physical Component Summary was associated with lower educational level (coeff. -1.9). Final height was not associated with HRQoL. CONCLUSIONS/SIGNIFICANCE: In conclusion, HRQoL after treatment with rhGH in childhood depended mainly on the underlying indication for rhGH treatment. Patients with isolated growth hormone deficiency/idiopathic short stature or patients with associated diseases or syndromes had HRQoL comparable to peers. Patients with growth hormone deficiency after childhood cancer were at high risk for lower HRQoL. This reflects the general impaired health of this vulnerable group, which needs long-term follow-up.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes. © 2015 American Society for Bone and Mineral Research.

Galanin pathogenic mutations in temporal lobe epilepsy.

Temporal lobe epilepsy (TLE) is a common epilepsy syndrome with a complex etiology. Despite evidence for the participation of genetic factors, the genetic basis of TLE remains largely unknown. A role for the galanin neuropeptide in the regulation of epileptic seizures has been established in animal models more than two decades ago. However, until now there was no report of pathogenic mutations in GAL, the galanin-encoding gene, and therefore its role in human epilepsy was not established. Here, we studied a family with a pair of monozygotic twins affected by TLE and two unaffected siblings born to healthy parents. Exome sequencing revealed that both twins carried a novel de novo mutation (p.A39E) in the GAL gene. Functional analysis revealed that the p.A39E mutant showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2. These findings suggest that the p.A39E mutant could impair galanin signaling in the hippocampus, leading to increased glutamatergic excitation and ultimately to TLE. In a cohort of 582 cases, we did not observe any pathogenic mutations indicating that mutations in GAL are a rare cause of TLE. The identification of a novel de novo mutation in a biologically-relevant candidate gene, coupled with functional evidence that the mutant protein disrupts galanin signaling, strongly supports GAL as the causal gene for the TLE in this family. Given the availability of galanin agonists which inhibit seizures, our findings could potentially have direct implications for the development of anti-epileptic treatment.

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the"rescue" role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.

Reciprocal preening and food sharing in colour-polymorphic nestling barn owls.

Barn owl (Tyto alba) siblings preen and offer food items to one another, behaviours that can be considered prosocial because they benefit a conspecific by relieving distress or need. In experimental broods, we analysed whether such behaviours were reciprocated, preferentially exchanged between specific phenotypes, performed to avoid harassment and food theft or signals of hierarchy status. Three of the results are consistent with the hypothesis of direct reciprocity. First, food sharing was reciprocated in three-chick broods but not in pairs of siblings, that is when nestlings could choose a partner with whom to develop a reciprocating interaction. Second, a nestling was more likely to give a prey item to its sibling if the latter individual had preened the former. Third, siblings matched their investment in preening each other. Manipulation of age hierarchy showed that food stealing was directed towards older siblings but was not performed to compensate for a low level of cooperation received. Social behaviours were related to melanin-based coloration, suggesting that animals may signal their propensity to interact socially. The most prosocial phenotype (darker reddish) was also the phenotype that stole more food, and the effect of coloration on prosocial behaviour depended upon rank and sex, suggesting that colour-related prosociality is state dependent.

The Child Protection System from the Perspective of Young People: Messages from 3 Studies

This article reports findings and reflections based on the results of three different research projects conducted between 2008 and 2013 and focusing on the perspective of young care leavers in Spain. The overall aim was to examine these young people’s perceptions and evaluations of how they were treated while in the public care system, mainly residential care. Reviewing these qualitative studies, the most common and relevant issues highlighted by young people were related to the following themes: (a) entering care; (b) stability and emotional bonds in care; (c) education; (d) friends; (e) labelling, stigmatization, rights and opportunities; (f) autonomy and responsibility versus overprotection; (g) contact with parents, siblings and extended family; (h) maltreatment in care; and (i) leaving care. One of the main elements used in their assessments was comparison (i) between their previous situation within their birth family and the quality of care experienced in the residential home; and (ii) between what these young people commonly refer to as “normal children” and children in care. Recommendations deriving from their advice and opinions are also debated

Classification, comorbidity, heredity, and risk factors of female sexual dysfunctions

Female sexual dysfunctions, including desire, arousal, orgasm and pain problems, have been shown to be highly prevalent among women around the world. The etiology of these dysfunctions is unclear but associations with health, age, psychological problems, and relationship factors have been identified. Genetic effects explain individual variation in orgasm function to some extent but until now quantitative behavior genetic analyses have not been applied to other sexual functions. In addition, behavior genetics can be applied to exploring the cause of any observed comorbidity between the dysfunctions. Discovering more about the etiology of the dysfunctions may further improve the classification systems which are currently under intense debate. The aims of the present thesis were to evaluate the psychometric properties of a Finnish-language version of a commonly used questionnaire for measuring female sexual function, the Female Sexual Function Index (FSFI), in order to investigate prevalence, comorbidity, and classification, and to explore the balance of genetic and environmental factors in the etiology as well as the associations of a number of biopsychosocial factors with female sexual functions. Female sexual functions were studied through survey methods in a population based sample of Finnish twins and their female siblings. There were two waves of data collection. The first data collection targeted 5,000 female twins aged 33–43 years and the second 7,680 female twins aged 18–33 and their over 18–year-old female siblings (n = 3,983). There was no overlap between the data collections. The combined overall response rate for both data collections was 53% (n = 8,868), with a better response rate in the second (57%) compared to the first (45%). In order to measure female sexual function, the FSFI was used. It includes 19 items which measure female sexual function during the previous four weeks in six subdomains; desire, subjective arousal, lubrication, orgasm, sexual satisfaction, and pain. In line with earlier research in clinical populations, a six factor solution of the Finnish-language version of the FSFI received supported. The internal consistencies of the scales were good to excellent. Some questions about how to avoid overestimating the prevalence of extreme dysfunctions due to women being allocated the score of zero if they had had no sexual activity during the preceding four weeks were raised. The prevalence of female sexual dysfunctions per se ranged from 11% for lubrication dysfunction to 55% for desire dysfunction. The prevalence rates for sexual dysfunction with concomitant sexual distress, in other words, sexual disorders were notably lower ranging from 7% for lubrication disorder to 23% for desire disorder. The comorbidity between the dysfunctions was substantial most notably between arousal and lubrication dysfunction even if these two dysfunctions showed distinct patterns of associations with the other dysfunctions. Genetic influences on individual variation in the six subdomains of FSFI were modest but significant ranging from 3–11% for additive genetic effects and 5–18% for nonadditive genetic effects. The rest of the variation in sexual functions was explained by nonshared environmental influences. A correlated factor model, including additive and nonadditive genetic effects and nonshared environmental effects had the best fit. All in all, every correlation between the genetic factors was significant except between lubrication and pain. All correlations between the nonshared environment factors were significant showing that there is a substantial overlap in genetic and nonshared environmental influences between the dysfunctions. In general, psychological problems, poor satisfaction with the relationship, sexual distress, and poor partner compatibility were associated with more sexual dysfunctions. Age was confounded with relationship length but had over and above relationship length a negative effect on desire and sexual satisfaction and a positive effect on orgasm and pain functions. Alcohol consumption in general was associated with better desire, arousal, lubrication, and orgasm function. Women pregnant with their first child had fewer pain problems than nulliparous nonpregnant women. Multiparous pregnant women had more orgasm problems compared to multiparous nonpregnant women. Having children was associated with less orgasm and pain problems. The conclusions were that desire, subjective arousal, lubrication, orgasm, sexual satisfaction, and pain are separate entities that have distinct associations with a number of different biopsychosocial factors. However, there is also considerable comorbidity between the dysfunctions which are explained by overlap in additive genetic, nonadditive genetic and nonshared environmental influences. Sexual dysfunctions are highly prevalent and are not always associated with sexual distress and this relationship might be moderated by a good relationship and compatibility with partner. Regarding classification, the results supports separate diagnoses for subjective arousal and genital arousal as well as the inclusion of pain under sexual dysfunctions.

Henkilökohtainen on poliittista. Neuvottelu politiikan sukupuolittuneesta työnjaosta Annan julkaisemissa poliitikkojen henkilökuvissa vuosina 1975–2005

Henkilökohtainen on poliittista Tutkimuksessa tarkastellaan tiedotusvälineissä käytyä neuvottelua miesten ja naisten mahdollisuuksista osallistua politiikkaan sekä siinä ilmenevää suomalaisen poliittisen julkisuuden muutosta. Tutkimuksen materiaalin muodostavat Anna-lehdessä vuosina 1975–2005 julkaistut 339 poliitikkojen henkilökuvaa, joita eritellään laadullisen tekstianalyysin keinoin. Politiikan sukupuolittunut työnjako Poliitikkojen henkilökuvat ovat Anna-lehdessä olleet henkilöhaastatteluja tai poliitikon haastatteluita yhdessä puolisonsa tai perheensä kanssa. Tutkittuna ajanjaksona Annassa on julkaistu selvästi enemmän naispoliitikkojen kuin miespoliitikkojen henkilökuvia. Poliitikkojen haastatteluissa neuvottellaan siitä, keillä on oikeus toimia politiikassa ja millaista politiikkaa miehet ja naiset voivat tehdä. Vaikka Annassa ilmestyneissä poliitikkojen henkilökuvissa on eri aikoina vastattu näihin kysymyksiin erilaisin tavoin, sukupuolittunut jako miesten yhteiskunnalliseen ja naisten yksityiseen tilaan säilyy teksteissä läpi koko tarkastellun 30 vuoden ajanjakson. Sukupuolittunut jako yhteiskunnalliseen ja yksityiseen ilmenee henkilökuvissa siten, että miehet esitetään toimimassa politiikassa vaivattomasti ja luonnollisesti, mutta naisten kuvataan ponnistelevan sen eteen, että he kykenisivät osallistumaan politiikkaan. Naispoliitikkojen henkilökuvissa toistuva kysymys on, millä edellytyksin tai millaisin rajoituksin naiset ovat voineet toimia politiikassa. Miehet edustavat poliitikon normia ja naiset poikkeusta normista. Poliitikkojen parisuhde- ja perhehaastatteluissa puolestaan käsitellään kysymystä sukupuolten välisestä työnjaosta perheessä. Kirjoituksissa toistuvat kysymykset siitä, millainen tulisi olla poliitikon ja hänen puolisonsa välinen työnjako, tulisiko miespoliitikon vaimon osallistua pyyteettömästi puolison uran tukemiseen tai millä tavoin naispoliitikon puolison tulisi suhtautua vaimonsa aikaa vievään poliittiseen uraan. Naispoliitikkojen haasteita Annan julkaisemat naispoliitikkojen henkilökuvat osoittavat sekä naisten poliittiseen osallistumiseen liittyviä ongelmia että joukon erilaisia ratkaisuja niihin. Naisten ruumiillisuus on näistä haasteista keskeisin. 1970-luvun Annassa ilmestyneissä naispoliitikkojen haastatteluissa käsiteltiin toistuvasti sitä, millä tavoin politiikassa työskentelevät naiset pukeutuvat, syövät ja lepäävät. 1980-luvulla Anna pyrki tekemään naisruumiista voimavaran osoittamalla, että naisten ”luonteva” taipumus hoivaamiseen teki heistä erityisen sopivia politiikan ”pehmeiden” asioiden puolestapuhujina, kuten rauhantyön ja sosiaalisektorin asioiden hoitajina. 1980-luvun lopussa ja 1990-luvun alussa julkaistuissa teksteissä luotiin naisten poliittista yhteisöllisyyttä korostamalla heidän kokemaansa ruumiillisuuteen perustuvaa sortoa, esimerkiksi ulkonäköön liittyviä epäasiallisia huomautuksia. 2000-luvulla naispoliitikkojen henkilökuvissa vakuutettiin, että naisen ikääntyminen ei heikennä hänen kykyään tehdä politiikkaa. Samana aikakautena julkaistuissa nuorehkojen naispoliitikkojen henkilökuvissa ruumiillisuuteen otettiin toinen näkökulma. Niissä naisruumiin väitetty sopimattomuus poliittiseen työhön ratkaistiin korostamalla, että haastatellut naiset kontrolloivat ruumistaan täydellisesti. Toinen naispoliitikkojen poliittista osallistumista uhkaavana tai häiritsevänä esitetty seikka Annassa on ollut yksityiselämä. Lehden mukaan kodin, puolison ja lasten yhdistäminen menestyksekkääseen poliittiseen uraan on ollut erityisen vaikeaa. 1980-luvun loppuun saakka henkilökuviin rakennettiin asetelma, jossa naispoliitikkojen tuli valita työn tai perheen välillä. Vuosituhannen taitteessa Anna otti yksityiselämän ja julkisen elämän väliseen ristiriitaan uuden näkökulman: lehti alkoi esittää, että lapset ovat naispoliitikkojen työelämän voimavara. Kirjoitusten mukaan tehokkaat nuoret naispoliitikot kykenivät halutessaan olemaan sekä ”pullantuoksuisia” äitejä että menestyviä poliitikkoja. Samalla kirjoitukset kuitenkin epäsuorasti osoittivat, ettei yksityisen ja julkisen elämän ristiriita kadonnut naispoliitikkojen kuvauksista: se vain muutti muotoaan ja sai uuden ratkaisun. Miespoliitikkojen luontevana esitetty asiantuntemus Annassa julkaistut miespoliitikkojen haastattelut ovat läpi tutkitun ajanjakson uusintaneet mielikuvaa yhteiskunnallisesta tilasta miehille luontaisesti sopivana ympäristönä. Niissä puhutaan politiikasta ikään kuin se olisi ainoastaan miesten hallitsema elämänpiiri. Poliitikka näyttäytyy miesten välisen kamppailun ja veljeyden kenttänä. Henkilökuvissa miespoliitikot pyrkivät kukistamaan vastustajansa, mutta samalla menestys miesten maailmassa edellyttää muiden miesten hyväksyntää. Henkilökuvissa rakennetaan vahvasti käsitystä miespoliitikoista yhteiskunnallisina asiantuntijoina. Kirjoituksissa heille annetaan tilaa ja mahdollisuuden käsitellä ajankohtaisia poliittisia ongelmia, kuten esimerkiksi terveydenhuollon tilaa tai yleissivistyksen tasoa Suomessa. Ero Annan julkaisemiin naispoliitikkojen haastatteluihin on selvä. Niiden joukossa vuosina 1975–2005 ei ole sellaisia kirjoituksia, joissa naispoliitikolla olisi itsestäänselvästi asiantuntemusta tai arvovaltaa käsitellä koko kansakuntaa askarruttavia yhteiskunnallisia kysymyksiä. Henkilökohtainen on poliittista Annan julkaisemat poliittikkojen henkilökuvat osoittavat, millä tavoin henkilökohtaisiksi mielletyt asiat ovat muuttuneet poliittisiksi. Kärjistäen voi sanoa, että 1970-luvun puolivälissä Suomessa oli vallalla mielikuva, jossa vastakkain asettuivat miesten politiikka ja naisten yksityiselämä. Kolmessakymmenessä vuodessa tilanne on muuttunut. 1980-luvun alussa Anna argumentoi, että naisten kokemus arkielämästä ja lasten kasvattamisesta antoi heille sellaista asiantuntemusta, jota tulisi hyödyntää myös politiikassa. Annan mukaan miesten hallitseva asema politiikassa oli johtanut tilanteeseen, jossa huomattava osa kansasta ei saanut ääntään politiikassa kuuluviin. 2000-luvulle tultaessa on mahdollista nähdä, että politiikkaan on muodostunut naisille sopivana nähty toiminnan sektori, johon kuuluvat esimerkiksi sosiaali- ja terveydenhuolto, opetus-, ympäristö- ja kulttuuripolitiikka sekä kansainvälinen kehitysyhteistyö. Verrattuna 1970-luvun puolivälin tilanteeseen naiset osallistuvat luontevasti huomattavaan osaan suomalaista politiikkaa. Sukupuolittunut yhteiskunnallinen jakolinja ei kulje enää politiikan ja yksityiselämän välillä, vaan politiikan sisällä. Samalla käsitys politiikasta on muuttunut. Hyvinvointivaltion ja valtion sosiaalisektoriin liittyvien vastuiden laajentuminen on johtanut tilanteeseen, jossa naisille sopiviksi miellettyjen poliittisten osaamisalueiden määrä on kasvanut. On myös puhuttu politiikan intimisaatiosta, jolla tarkoitetaan, että valtioiden poliittisen toiminnan piiri on tullut yhä lähemmäs ihmisten henkilökohtaista elämää. Naisten aikaisempaa laajempi poliittinen osallistuminen ei olisi ollut mahdollista ilman keskustelua aiheista, jotka koetaan hyvin henkilökohtaisiksi: ruumiin ja politiikan suhteesta, yksityiselämän ja julkisen elämän suhteesta tai arkielämän kokemusten suhteesta poliittiseen osallistumiseen. Näin henkilökohtainen ja poliittinen ovat olleet jatkuvassa vuorovaikutuksessa keskenään. Annan henkilökuvat kertovat muutoksesta, jossa yksityiselämän tapahtumat ovat tulleet kiinteäksi osaksi politiikan julkisuutta. Yksityiselämän julkisuus on ollut poliitikoille sekä mahdollisuus että haaste. Yhtäältä yksityiselämän julkisuus on tarjonnut miespoliitikoille oivallisen keinon tuoda esille henkilökohtaisensa elämänsä myönteisiä puolia, esimerkiksi omistautumista perheelle. Naispoliitikoille yksityiselämän tuleminen julkiseksi on tarjonnut keinon haastaa ja kyseenalaistaa niitä arvoja, joiden mukaan nainen ei voi onnistuneesti yhdistää menestystä työ- ja perhe-elämässä. Samalla poliittisen julkisuuden muutos on merkinnyt sitä, että yksityiselämästä on tullut poliitikoille myös rasite. Julkisuudessa ei tehdä selkeää rajaa yksityisen ja julkisen elämän välillä, vaan henkilökohtaisen elämän valinnoista ja tapahtumista on tullut erottamaton osa poliitikkojen julkisuuskuvaa. Annan julkaisemien poliitikkojen henkilökuvien analyysi osoittaa, että poliitikot symboloivat yhteiskunnallisia arvoja ja asenteita. Poliitikot eivät ole vain ihmisiä ansioineen ja puutteineen, vaan heidän saamansa julkisuuden kautta keskustellaan suuremmista yhteiskunnallisista kysymyksistä, kuten naisten oikeudesta osallistua politiikkaa tai sukupuolten välisestä työnjaosta yhteiskunnassa. Annassa ilmestyneet poliitikkojen henkilökuvat ovat olleet osa prosessia, jossa suomalainen sukupuolittunut työnjako on neuvoteltu merkittävältä osaltaan uuteen muotoon. Naiset ovat saaneet vastuulleen olennaisen osan suomalaista politiikkaa samalla kun politiikan sisältö on myös muuttunut. Julkisuudessa näkyvien poliitikkojen henkilökohtaisen elämän valinnat asettuvat kontekstiinsa osana neuvotteluprosessia, jossa mietitään ja kyseenlaistetaan yhteiskunnallisia arvoja ja asenteita. Tässäkin mielessä henkilökohtaisesta on tullut poliittista.

Late effects of cancer at a young age: Registry-based studies of the health of cancer patients and their off-spring

Modern cancer therapy has resulted in increased survival among patients diagnosed with cancer at a young age. These improvements have led to the investigation of late morbidity and mortality associated with cancer and its treatments. The aim of this study was to evaluate late effects of cancer treated at a young age on the health of patients and their offspring. Utilising the nationwide population-based registries in Finland, we evaluated the risk of hypothyroidism and the probability of parenthood in cancer survivors as well as preterm birth, neonatal outcomes, and the risk of cancer among offspring of patients. The survivor cohort, identified from the Finnish Cancer Registry, consisted of 25,784 cancer patients diag-nosed between ages 0 and 34 in 1953–2004. By linkage to the population register, siblings of these patients were identified for comparison. The prevalence of hypothyroidism was higher among former childhood cancer (aged 0–16) patients than in the general population. The probability of parenthood following early onset cancer was overall significantly reduced compared to siblings. Offspring of female cancer survivors were at an increased risk of preterm birth, this risk being highest among patients diagnosed in childhood and early adulthood (aged 20–34 years). The offspring were not, however, at a significantly increased risk of neonatal death or stillbirth, though they were more likely to need monitoring or intensive care in the neonatal period. The risk of sporadic cancer among offspring of male and female cancer survivors was not elevated in comparison to the general population. The study showed that former cancer patients are at risk of certain adverse endocrine and reproductive health outcomes and should be followed for timely intervention. The offspring of cancer survivors do not appear to be at risk for adverse health outcomes.

REPRODUCTIVE SYSTEM AND POLLEN FLOW IN PROGENIES OF Qualea grandiflora Mart., A TYPICAL SPECIES OF THE BRAZILIAN CERRADO

This study analyzed the reproductive system and the pollen dispersion pattern of Qualea grandiflora progenies. This is a typical species from the Brazilian Cerrado about which there are not too many studies from the genetics point of view. The study was conducted in an area of 2.2 hectares located in the Conservation Unit managed by the Forest Institute of the state of São Paulo, Brazil (Assis State Forest). Total genomic DNA of 300 seeds from 25 plants (12 seeds from each plant) was extracted and amplified using specific primers to obtain microsatellite markers. Results showed that selfing is frequent among adults and progenies, and the species reproduces by outcrossing between related and unrelated individuals (0.913). The single-locus outcrossing rate was 0.632, which indicates that mating between unrelated individuals is more frequent than between related plants. The selfing rate was low (0.087), that is, the species is allogamous and self-fertilization is reduced. About 35% of the plants in the progenies were full-sibs, and about 57%, half-sibs. Besides, about 8% of the progenies were selfing siblings. The genetic differentiation coefficient within progenies was 0.139, whereas the fixation rate was about 27%. The estimate of the effective size revealed that the genetic representativeness of descent was lower than expected in random mating progenies: The analyzed samples corresponded to only 13.2 individuals of an ideal panmictic population. In environmental recovery programs, seeds, preferably from different fruits, should be collected from 95 trees to preserve the genetic diversity of the species.

Health Related Quality of Life after Childhood Cancer - A Finnish Nationwide survey

The purpose of this Finnish epidemiological nationwide cross-sectional study was to evaluate the Health Related Quality of Life (HRQL) of young people that have survived childhood cancer at least four years after cancer diagnosis. The study aims were (1) to increase knowledge and understanding about the relationship between childhood cancer and its treatment and HRQL of childhood cancer survivors and (2) to identify survivors who need and could benefit from ongoing long-term follow-up, as well as (3) to identify what kind of aftercare the childhood cancer survivors will possibly need. HRQL and fatigue of currently still young survivors of extracranial childhood malignancies were evaluated with self-reports and parent proxy reports. HRQL was measured with age-appropriate generic instruments: PedsQL™, SF-36, 15D, 16D and 17D. Fatigue for children and adolescents aged below 18 years was measured with the PedsQL™ Multidimensional Fatigue Scale Finnish version. PedsQL™ parent-proxy and the PedsQL™ Multidimensional Fatigue Scale Parentproxy instruments were used to assess the perception of the parents on HRQL and fatigue of their children and adolescents. Postal-survey questionnaires were mailed to 852 childhood cancer survivors aged 11-27 years and their randomly selected gender-, age and living-place matched controls, as well as under 18-year-old children´s parents. A total of 474 survivors, 595 controls, 209 survivor’s parent and 253 control’s parent replied. The mean age of survivors at the time of the study was 18.4 years. The mean length of survival was 12.3 years, and the mean age at diagnosis 5.5 years. The most of the Finnish childhood cancer survivors evaluated that their HRQL as good. Survivors rated their HRQL equal or higher than their controls. The only dimension where the survivors scored poorer than the controls was the 15D mobility dimension. Survivors of childhood cancer did not suffer from significant fatigue. There were subgroups of childhood cancer survivors who had poorer level of HRQL, and suffered from fatigue more than the reference group. The demographic factors that associated with poorer HRQL were female gender, greater weight, living alone, need of remedial education, an additional non-cancer diagnosis, survivors with siblings, and self-reported unhappiness. Disease-related factors that associated with poorer HRQL were higher age at the time of diagnosis, the diagnosis of Wilms tumor, neuroblastoma, or osteosarcoma, and treatment with stem cell transplantation. The factors associated with more fatigue in survivors were male gender, older age at evaluation, the need of remedial education at school, lower overall average grade in the latest school marks report, length of survival more than 10 years, lower HRQL-scores, and a sarcoma diagnosis. However, all the used demographic and disease related factors explained only about one third of the variation in the HRQL scores. In open questions, the survivors were most worried about their physical health, but were also worried about their mental health, cancer inheritance, late-effects, and fertility and relapse issues. It seems that there are subgroups of survivors who need and could benefit from ongoing long-term follow-up. In the future, the survivors of childhood cancer need more information about their physical and mental health, as well as on their cancer inheritance, possible late-effects including fertility issues, and on the risk of relapse.

Correlation of mixed lymphocyte culture with chronic graft-versus-host disease following allogeneic stem cell transplantation

The purpose of the present study was to evaluate the mixed lymphocyte culture as a predictive assay of acute and chronic graft-versus-host disease (GVHD). We studied 153 patients who received a first bone marrow transplantation from human leukocyte antigen-identical siblings. Acute GVHD was observed in 26 of 128 (20.3%) patients evaluated and chronic GVHD occurred in 60 of 114 (52.6%). One-way mixed lymphocyte culture (MLC) assays were performed by the standard method. MLC results are reported as the relative response (RR) from donor against patient cells. The responses ranged from -47.0 to 40.7%, with a median of 0.5%. The Kaplan-Meier probability of developing GVHD was determined for patients with positive and negative MLC. There was no significant difference in incidence of acute GVHD between the groups studied. However, the incidence of chronic GVHD was higher in recipients with RR >4.5% than in those with RR <=4.5%. The Cox Proportional Hazards model was used to examine the effect of MLC levels on incidence of chronic GVHD, while adjusting for the potential confounding effect of others suspected or observed risk factors. The relative risk of chronic GVHD was 2.5 for patients with positive MLC (RR >4.5%), 2.9 for those who received peripheral blood progenitor cells as a graft, and 2.2 for patients who developed previous acute GVHD. MLC was not useful for predicting acute GVHD, but MLC with RR >4.5% associated with other risk factors could predict the development of chronic GVHD, being of help for the prevention and/or treatment of this late complication.

Multicultural Belonging. Individuals across cultures, languages and places

The article-based doctoral dissertation deals with adult individuals in Western societies who were born into multilingual and multicultural families and have parents of different nationalities. The study’s participants grew up outside their parents’ countries of origin and relate to a multitude of bonds that link them across various cultures, languages and places. The study explores the social dimension of cultural belonging and examines diverse approaches that enable the participants to create notions of belonging and identification despite possessing at times contradictory transnational allegiances. The works offers new perspectives on transnational belonging and makes a timely contribution to discussions in the fields of cultural heritage studies, ethnology and transnational studies. The dissertation combines qualitative research methods with an insider perspective. The empirical material is based on semi-structured interviews with fifteen participants, among which are also the author’s siblings. The study addresses the relevance of the author’s personal situatedness and her multi-faceted roles as well as ethical concerns related to the methodological approach of insider research. The social dimension of cultural identities affect both the participants’ identification with their multiple attachments and language use in everyday life. The key research findings present interrelated discussions of the participants’ notion of being a mixture, the importance of family bonds and multilingualism, a specific mixed family lifestyle, the notion of non-belonging and the study participants’ sense of otherness as a means of creating communality with others. The study discusses the participants’ various life strategies of flexible relativising, juggling with multiple affiliations, the approach of “blending in” and their sense of ironic nation-ness for constructing a coherent sense of belonging. The author argues that multicultural belonging is inextricably connected to an association with multiple languages, cultures and places. Multicultural belonging is relational and depends on the context, social relationships and locations. The study proposes that multicultural belonging creates a tolerant understanding of membership and enables experiences of cosmopolitanism and selected notions of allegiance.