Skip to main content
Login | Suomeksi | På svenska | In English

Browsing by Title

Sort by: Order: Results:

  • Björkholm, Susanne (2019)
    Objectives. A new theory of personality is presented. The A-TRiC is unique in having a substantive theoretical basis in human evolutionary history and the phylogenetic constraints on development of dimensional psychological traits. Trust, Reactivity (to threat) and (need for) Control are personality traits found in all social mammals. Independence affects need for social reward, Analytical Thinking affects willingness to adhere to mechanistic/reductionistic vs intuitive/holistic explanations to phenomena. Since it would be futile academic egotism to propose a new theory unless one is needed, the psychometric and theoretical problems of the mainstream Five-Factor theory are also analysed. Methods. 1027 participants (61% female; Mage 41) completed the A-TRiC questionnaire online. Internal consistencies of the traits and model fit were investigated and predictions about traits and some outcomes were tested. Results & conclusions. Internal consistency was acceptable. Central model fit indices showed acceptable to poor fit. Levels of Reactivity and Control were associated with lifetime diagnoses of depression and anxiety. Reactivity was associated with addiction. High scores in Analytical thinking were associated with male gender and a degree in natural science. Women scored higher on Control. Some conceptual confusions hindering progress in the scientific study of personality are discussed in light of the theory and its background assumptions.
  • Qadri, Sami; Anttonen, Olli; Viikilä, Juho; Seppälä, Eija H.; Myllykangas, Samuel; Alastalo, Tero-Pekka; Holmström, Miia; Heliö, Tiina; Koskenvuo, Juha W. (2018)
    BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c.1003A > G, p.(Thr335Ala) was discovered in the index patients using next-generation sequencing panels. The presence of this variant in probands’ siblings and children was studied by Sanger sequencing. Five homozygotes and nine heterozygotes were found with the mutation. Participants were evaluated clinically where possible, and available medical records were obtained. All patients homozygous for the variant fulfilled the current diagnostic criteria for ARVC, whereas none of the heterozygous subjects had symptoms suggestive of ARVC or other cardiomyopathies. CONCLUSIONS The homozygous DSG2 variant c.1003A > G co-segregated with ARVC, indicating autosomal recessive inheritance and complete penetrance. More research is needed to establish a detailed understanding of the relevance of rare variants in ARVC associated genes, which is essential for informative genetic counseling and rational family member testing.
  • Asikainen, Sonja (2023)
    Objectives. The most prevailing theory on developmental dyslexia (DD) is the phonological deficit theory, according to which individuals with DD have impairments in neural processing of speech sounds. However, there is evidence that the cause of DD could be related to a fundamental impairment called categorical speech perception (CSP) deficit that is related to the perception of auditory phonemes categories. CSP deficits have been reported in children with or at risk for DD but the results are inconsistent and under debate. Therefore, the present study aimed to determine whether the CSP deficit can be detected in preschoolers at family risk for DD when compared to chronological-age controls and whether the performance on the CSP task predicts age-appropriate pre-reading skills. Methods. The study sample consisted of 49 5-year-old Finnish preschoolers of which 36 had a familial risk for DD and 13 were controls with no such risk. The CSP performance was evaluated with a behavioral speech sound categorization task and pre-reading skills with the LUKIVA scale. The data structure represented a hierarchical nested design, and therefore, the CSP performance was analyzed by using the Linear Mixed-Effects Model, and pre-reading skills by the Generalized Linear Mixed Model. Results and Conclusions. The at-risk children had a poorer performance on the CSP task than the control group; however, the difference was only marginally significant. The performance on the CSP task had no significant relationship with pre-reading skills. Since the difference in CSP performance between the groups was marginal, more research is needed to further validate the relationship between DD and CSP.
  • Tarhio, Reetta (2022)
    Leukaluksaatiolla eli leukanivelen sijoiltaan menolla tarkoitetaan kondyylin siirtymistä tuberculum articularen anterioripuolelle. Tila on usein tyypillisesti potilaalle huomattavasti toimintaa rajoittava. Tyypillisiä löydöksiä leukaluksaatiossa ovat avopurenta, mahdollisesti kipu sekä toispuoleisessa luksaatiossa alaleuan deviointi. Tutkimuksen tarkoituksena oli selvittää leukaluksaation etiologiaa sekä leukaluksaation diagnostiikan, hoidon ja jatkohoidon menetelmiä. Hoidon ja jatkohoidon osalta tarkoituksena oli selvittää eri hoitomuotojen käytön yleisyyttä ja toimivuutta. Lisäksi tutkimuksessa selvitettiin tarvetta kirurgiseen hoitoon ja jatkohoidon tarpeeseen leukaluksaation yhteydessä. Tutkimusaineisto koostuu Töölön tapaturma-asemalla, Helsingin yliopistollisessa sairaalassa vuosien 2007- 2020 välillä hoidetuista 800 leukanivelvaivaisesta potilaasta. Näistä 260:lla oli lopulta diagnosoitu leukaluksaatio kliinisen tutkimuksen perusteella. Tutkimuksen tulokset osoittivat, että leukaluksaatio on yleisempi naisilla, usein toistuva ja bilateraalinen. Diagnostiikka perustuu suurilta osin anamneesiin ja kliiniseen statukseen. Radiologisten tutkimusten tarve leukaluksaation diagnostiikassa on harvinaista. Leukaluksaatiot ovat usein yhteydessä neurologisiin sairauksiin sekä korkeaan ikään. Yleisin mekanismi leukaluksaation synnylle on spontaani luksaatio. Leukaluksaation hoito tapahtuu tyypillisesti reponoimalla leuka hippokrateen otteella. Kirurgian tarve leukaluksaatioiden yhteydessä on harvinaista ja tulee kyseeseen toistuvan luksaation potilailla. Tutkimuksen avulla pyritään parantamaan leukaluksaatiopotilaiden hoidon tehokkuutta ja selvittämään tarkemmin leukaluksaatioon johtaneita tekijöitä. Leukaluksaation hoidossa korostuu eri yksiköiden välinen yhteistyö ja reponoinnin osaaminen lähettävässä yksiköissä. Tällä hetkellä vähäisestä potilasotoksesta johtuen hoitosuositukset ovat perustuneet esimerkiksi toistuvan luksaation hoidossa tapausselostuksiin. (193 sanaa)
  • Nieminen, Markus; Aro, Katri; Jouhi, Lauri; Bäck, Leif; Mäkitie, Antti; Atula, Timo (2019)
    Tausta: Pään ja kaulan alueen syövät diagnosoidaan yleensä myöhäisessä vaiheessa, mikä johtaa huonompaan ennusteeseen. Viive voi johtua potilaasta itsestään tai perusterveydenhuollosta. Menetelmät: Keräsimme tietoja potilaiden hoitoon hakeutumisesta kyselylomakkeella, joka kartoitti potilaiden oirekuvaa, oireiden alkamisajankohtaa ja muita tekijöitä, joilla saattoi olla vaikutusta hoitoon hakeutumiseen. Vertasimme kyselylomakkeesta saatuja tietoja potilaan sairauskertomuksissa oleviin tietoihin. Tulokset: Potilaskohorttimme koostui 142 uudesta pään ja kaulan alueen syöpäpotilaasta. Mediaani potilasviive, eli aika ensioireesta hoitoon hakeutumiseen, oli 35 päivää. Mediaani perusterveydenhuollosta johtuva viive, eli aika hoitoon hakeutumisesta lähetteen kirjoittamiseen erikoissairaanhoitoon, oli 20 päivää. Potilailla, joilla oli äänen käheyttä tai hengitysvaikeuksia, oli pidemmät potilasviiveet. Kaulakyhmy sai puolestaan potilaat hakeutumaan nopeasti hoitoon. Potilaan iällä, sukupuolella, asuinpaikalla, koulutuksella, tupakan ja alkoholin kulutuksella ei ollut vaikutusta viiveisiin. Tärkeimmät perusterveydenhuollon viiveeseen vaikuttavat tekijät olivat hoitoon hakeutumisen kohde ja se, sovittiinko ensikäynnillä kontrollia. Mikäli potilas hakeutui yksityiselle korva-, nenä-, ja kurkkutautien erikoislääkärille, viive oli selvästi lyhyempi. Vastaavasti potilailla, jotka ohjattiin suoraan erikoissairaanhoitoon, tai joille sovittiin kontrollikäynti, oli lyhyemmät viiveet. Johtopäätökset: Vaikka viiveet olivat lyhyitä enemmistöllä potilaista, pitkiäkin, jopa yli vuoden viiveitä, esiintyi. Tehokkain tapa lyhentää potilaasta ja perusterveydenhuollosta johtuvia viiveitä on tiedon levittäminen pään ja kaulan alueen syöpien oireista etenkin syöpäriskissä oleville potilaille ja heitä perusterveydenhuollossa hoitaville lääkäreille.
  • Schmidt, Eeva-Kaisa; Atula, Sari; Tanskanen, Maarit; Nikoskinen, Tuuli; Notkola, Irma-Leena; Kiuru-Enari, Sari (2016)
    Background: Finnish type of hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant disorder. Until recently, there has only been little knowledge of fatal complications of the disease and its possible impact on the patients' life span. Methods: We identified 272 deceased patients based on patient interviews and genealogical data. After collecting their death certificates we recorded the patients' underlying and immediate causes of death (CoD) and life span and compared them to the general Finnish population. We then calculated proportional mortality ratios (PMR), standardised for age and sex, for the CoDs. Results: The underlying CoD in 20% of the patients was AGel amyloidosis (PMR=114.2; 95% CI 85.6-149.4). The frequency of fatal cancers (10%) was significantly diminished (PMR=0.47; 95% CI 0.31-0.69). Renal complications were overrepresented as the immediate CoD in female patients (PMR=2.82 95% CI 1.13-5.81). The mean life span for male patients was 73.9 years (95% CI 72.0-75.6) and 78.0 years for female patients (95% CI 76.4-79.5) compared to 72.1 and 80.1 years for the general population. Conclusions: Our results suggest that the disease increases the risk for fatal renal complications, but does not substantially shorten the life span, possibly due to the significantly lower frequency of fatal cancers.
  • Lehikoinen, Rasmus (2020)
    Tausta: Subaraknoidaalivuoto (SAV) on akuutisti henkeäuhkaava tila, ja sen insidenssi on noin 9/100 000 henkilövuotta. SAV:n tärkeimmät riskitekijät ovat tupakointi, korkea verenpaine, alkoholin liikakäyttö ja naissukupuoli. SAV:n sairastaneilla ja siitä selvinneillä potilailla on aikaisemman tutkimustiedon valossa pitkässä seurannassa ylikuolleisuutta. Tutkimuksen tarkoituksena oli selvittää laajemmin ylikuolleisuuden syitä. Menetelmät: Vertailimme keskenään vuosien 1996-2016 aneurysmaattisen SAV:n saaneiden potilaiden ja muun suomalaisen väestön kuolinsyitä ikä, sukupuoli, sairaanhoitopiiri ja ajanjakso vakioituna. Käytimme Tilastokeskuksen 54-luokkaista kuolemansyyluokitusta tarkentaen kuitenkin aivoverisuonitautien diagnooseja, jotta näiden syiden tarkempi analysointi olisi mahdollista. Tulokset: Kaikki aivoperäiset kuolemansyyt olivat yliedustettuina vertailuryhmään nähden: SAV:hen liittyvien ongelmien lisäksi nousivat siis esiin myös aivoinfarktit SMR (standardized mortality ratio, vakioitu kuolleisuussuhde) 2,19 (95%LV=1,57-2,97), spontaanit aivoverenvuodot SMR 4,42 (3,23-5,92) sekä näiden myöhäisvaikutukset. Aivoperäisten syiden osalta SMR pysyi merkitsevästi taustaväestöä suurempana koko seuranta-ajan. Ei-aivoperäisistä syistä ylikuolleisuutta aneurysmaattisen SAV:n sairastaneilla potilailla aiheuttivat kurkunpään, henkitorven ja keuhkon syöpä SMR 1,89 (1,43-2,44), dementia ja Alzheimerin tauti SMR 1,52 (1,16-1,96), iskeemiset sydäntaudit SMR 1,67 (1,43-1,94), muut paitsi reumaattiset ja alkoholiset sydäntaudit SMR 1,57 (1,03-2,28) sekä tapaturmat ja väkivalta SMR 1,39 (1,02-1,84). Pohdinta: Tutkimuksemme perusteella SAV on yhteydessä korkeampaan vaskulaarikuolleisuuteen. Erityisesti aivoverisuonien sairaudet ovat yliedustettuina, mutta myös muiden kardiovaskulaarisyiden rooli on selkeä. SAV:ta voitaneen siis pitää, ainakin osittain, merkkinä huonontuneesta verenkiertoelimistön tilasta, ja näiden potilaiden kohdalla tulisikin kiinnittää erityistä huomiota kardiovaskulaarisairauksien riskitekijöiden tehokkaaseen hallintaan.
  • Borenius, Kristian (2021)
    Lung cancer caused the most cancer related deaths world-wide in 2018 and despite extensive research the prognosis of a lung cancer patient remains generally poor. Lung cancer is divided into different histological subtypes the two main types being non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). Currently lung cancer is diagnosed with radiological imaging and tissue biopsies. Generally, curative treatment can be achieved only by surgical treatment of early-stage NSCLC. Only 20–25% of NSCLC are eligible for curative intent surgery. Furthermore, 30–55% of these patients have a fatal recurrence of lung cancer. Cell-free DNA (cfDNA) has gained interest in the field of oncology. Generally, cfDNA refers to all the DNA in the body that is free from cellular confinement. Circulating tumor DNA (ctDNA) is cfDNA that originates from cancer cells. It has potential to be a minimally invasive method used in various parts of cancer management including early detection, diagnosis, treatment, monitoring the response for treatment and identification of drug resistance. While the use of cfDNA still lacks clinical trials to be widely used in a clinical setting, it is highly possible that cfDNA analysis establishes a central role in the future in the oncological field.
  • Almeida, Sérgio (2016)
    Cerebral dopamine neurotrophic factor (CDNF) and mesencephalic astrocyte-derived neurotrophic factor (MANF) form a novel neurotrophic factor family due to their unique structure and different mode of action when compared to classical neurotrophic factors. CDNF and MANF have shown to protect dopaminergic neurons in Parkinson's disease animal models and therefore they are considered potential therapy agents. However, their target molecules, i.e., putative receptor(s) and signalling pathways are still unknown. 78 kDa glucose-regulated protein (GRP78) member of the heat shock protein (HSP) family is a major chaperone that under Endoplasmic Reticulum (ER) stress conditions is up-regulated and prevents protein aggregation as well as facilitates degradation of misfolded proteins. It locates mainly in the ER but location can change in different conditions. In cancer research, GRP78 has been found highly expressed on the surface of cancer cells where it regulates critical oncogenic signalling pathways. For example, it was recently shown that Par-4 (Prostate apoptosis response-4) induces apoptosis via activation of caspase-3 by binding to GRP78, expressed at the surface of cancer cells. GRP78 has been shown capable of relocating extracellularly also in neurons. Especially, it was recently shown that accumulating extracellular α-synuclein induces an increase in surface-exposed GRP78 in cultured neurons. α-synuclein interacts with cell surface GRP78 and activates a signalling cascade affecting the morphology and dynamics of actin cytoskeleton. Our group has recent, yet unpublished data suggesting that CDNF and MANF interact with GRP78 protein. The emerging role for GRP78 also in the neurodegeneration requests further investigation on its possible interaction with CDNF and MANF and on the biological meaning of that interaction. In order to test whether CDNF and MANF would interact with cell surface GRP78 and possibly compete with par-4 for the binding and in this way prevent apoptosis, we built a plasmid that would guide the expression and extracellular localization of GRP78 in the transfected cells. We transfected HEK293 cells with this plasmid and incubated them for 24h with two concentrations of par-4. We could see a trend of increasing apoptosis in PAR-4 –treated cells, but this was not enhanced in the cells expressing GRP78 extracellularly, as we had hypothesised. Thus we did not continue further with testing CDNF and MANF on this setting. Transfected HEK293 cells were incubated with alkaline phosphatase tagged MANF or CDNF (AP-MANF or AP-CDNF) and using the alkaline phosphatase substrate pNitrophenylphosphate (pNPP), we were able to study the binding between GRP78 and CDNF and MANF. Even though we could not prove the cell surface GRP78 interaction with MANF with this method, we show a high affinity binding between cell surface GRP78 and CDNF when transfected cells are incubated with different concentrations of AP-CDNF.
  • Enckell, Louise (2023)
    VMAT2 is an integral membrane protein with a crucial role in the monoaminergic system. It transports cytosolic dopamine and other neurotransmitters into synaptic vesicles for storage and later exocytotic release. VMAT2 has been found to have a neuroprotective effect, for instance by preventing oxidation of free cytosolic dopamine. Research has suggested that increased VMAT2 expression or function could have a protective effect against Parkinson’s disease. Rapid embryonic development, transparency during larval stage, and high homology with the human genome are some of the factors that makes the zebrafish a popular model organism. The aim of this research was to optimize the protocol for immunohistochemistry with an anti-dopamine antibody, and to find out how the absence of a functioning vmat2 gene in zebrafish mutants (vmat2-/-) affects dopamine immunostaining, compared to embryos with normal vmat2 function (vmat2+/+). Zebrafish larvae were fixed in a fixation agent, whereafter brains were dissected and immunostaining was performed. Individual methods in the protocol were adjusted for each experiment until the result of the dopamine staining was considered optimal. We found that the choice of fixative affected dopamine staining strongly. A clear reduction in dopamine immunoreactive cells was observed in zebrafish larvae lacking a functioning vmat2 gene compared to zebrafish with normal vmat2 function. The results also suggested that the localization of dopamine-storing cells in zebrafish larvae resembles more tyrosine hydroxylase 2 than tyrosine hydroxylase 1 expression pattern, especially in the hypothalamus. Vmat2-/- zebrafish could be useful when investigating how monoamine transport affects different diseases and their pharmacological treatment.
  • Hannikainen, Heikki (2014)
    Background and purpose: Cerebral venous thrombosis (CVT) is a rare, but serious disease, commonly occurring in young to middle-aged women. It is not yet known whether sinus size and shape confers a risk for thrombosis and whether clot size is correlated with recanalization rates, and because there is no established method for measuring sinus or clot size, we decided to develop one. Patients and methods: CVT patients with 3-D magnetic resonance imaging done early for diagnosis and follow-up imaging around 6 months or later were recruited. Age and sexmatched (1:2) control subjects were patients with various benign headache problems who underwent 3D MRI for excluding CVT or other acute structural disease. All major sinuses were measured in size (area and diameter). All detected clots underwent similar measurement (volume, area and length). Measurements were done with Osirix-software. Results: 25 CVT patients (17 females and 8 males) and 50 control subjects were measured. Volume of the thrombus was either dissolved or reduced in all except one case. Sinus area in CVT patients in follow-up imaging was slightly smaller compared to healthy subjects (P=0.052-0.170). Thrombus volumes were bigger (P=0.009) but also dissolved more effectively in women, with no difference in sex-groups in follow-up imaging. Residual clot volume was bigger in older patients (P=0.007). Other factors did not strongly correlate with thrombus volume. Measurement reproducibility with two individual investigators was good, with best interrater correlation of over 95% in volume measures. Conclusions: This is the first attempt in establishing a volumetric measurement of cerebral sinuses and clots. The methodology may help in estimating probability of recanalization and in trials with interventions such as local thrombolysis and thrombectomy.
  • Keltto, Natalie; Leivonen, Aku; Pankakoski, Maiju; Sarkeala, Tytti; Heinävaara, Sirpa; Anttila, Ahti (2021)
    Det har föreslagits att fortsätta screening för livmoderhalscancer hos kvinnor som tidigare haft avvikande testresultat eller som tidigare deltagit oregelbundet i screeningen. Vi har undersökt täckningen och faktorer som möjligen påverkar det opportunistiska testandet för livmoderhalscancer hos äldre kvinnor, som inte mera är inom åldern för det organiserade screeningprogrammet i Finland. Det nationella screeningprogrammet bjuder in alla kvinnor vart femte år, minst upp till 60 års ålder. Därefter är endast opportunistiskt testande tillgängligt. Data om testandet för livmoderhalscancer samlades från Massundersökningsregistret och från erbjudare av opportunistisk Pap/HPV-testning och kopplades ihop med information gällande socioekonomiska variabler. Studien omfattade 373 353 kvinnor som hade fått minst en inbjudan till det nationella screeningprogrammet mellan 50-60 års ålder, och som var 65-74 år gamla under uppföljningsperioden åren 2006-2016. Multivariabla binomialregressionsmodeller genomfördes för att undesöka möjliga samband. Sammanlagt 33% av forskningspopulationen hade blivit åtminstone en gång testade under åldern 65-74 år. Tidigare deltagande i screening och tidigare avvikande testreslutat var klart associerade med högre testningsaktivitet vid högre ålder. Andra faktorer som hade samband till högre testningsaktivitet var urban bostadsmiljö, inhemskt modersmål, hög utbildning och hög socioekonomisk status.
  • Karhu, Elisa (2016)
    Gastrointestinal symptoms such as diarrhea, cramping, nausea and gastric pain occur frequently in runners during training and competitions. The mechanisms leading to the distress are not fully understood, nor the reason why some remain asymptomatic. However, hyperthermia induced by exercise elevation of core temperature and oxidative damage due to reduced gastric blood flow have been postulated to affect the intestinal epithelial cells. Both sources of stress disrupt the binding of the epithelial tight junction proteins and increase permeability of the membrane to luminal endotoxins. Endotoxins reaching the blood stream through leaky tight junctions lead to an inflammatory response mediated by cytokines. These mechanisms may underlie the gastrointestinal symptoms often experienced by endurance athletes. The aim of this study was to measure running-induced changes in intestinal permeability and inflammatory markers and investigate their association with gastrointestinal symptoms. A secondary objective was to inspect possible correlations between gastrointestinal symptom occurrence and intake of certain nutrients. A total of 17 active runners were allocated into a control group (asymptomatic) or a symptomatic group based on a symptom history questionnaire and completed a 90-minute running test. Intestinal permeability at baseline and after the run were assessed via urine recovery of orally administered Iohexol . LPS (endotoxin) and zonulin concentrations were determined from serum samples. Participants kept a food diary for three days before each measurement and filled out a symptom questionnaire after the run. No significant difference was found in intestinal permeability between symptomatic and asymptomatic runners either at rest or following strenuous exercise. However, both groups experienced a significant increase in intestinal permeability from baseline to after running. LPS concentrations were significantly higher at baseline in the symptomatic group. This may explain the higher symptom occurrence in the symptomatic group. Zonulin levels were higher in control group than symptom group after the run. Zonulin concentration was also higher in the control group after the run compared to baseline. The symptom group reported more stomach pain and stool changes after running compared to controls. Comparison of average intake of various nutrients between the two groups showed no significant differences, indicating an individual predisposition as the cause of symptoms rather than diet alone. The lack of difference in intestinal permeability between the groups combined with the difference in symptom occurrence indicates that intestinal permeability changes alone do not account for symptom development. A possible factor may be individual differences in intestinal mucosa repair ability or some underlying pathology.
  • Pöllänen, Petra (2016)
    Aims/hypothesis To characterise rapid progressors to type 1 diabetes among children recruited from the general population based on HLA-conferred disease susceptibility. Methods We observed 7410 HLA-predisposed children participating in the Finnish Type 1 Diabetes Prediction and Prevention (DIPP) Study from birth for development of beta cell autoimmunity and type 1 diabetes over a median follow-up time of 16.2 (range 0.9-21.1) years. Islet cell antibodies, and autoantibodies to insulin (IAA), GAD (GADA), and islet antigen 2 (IA-2A) were analysed as markers of beta cell autoimmunity. Rapid progression was defined as progression to clinical type 1 diabetes within 1.5 years after autoantibody seroconversion. We analysed the association between rapid progression and demographic and autoantibody characteristics as well as genetic markers including 25 non-HLA single nucleotide polymorphisms (SNPs) predisposing to type 1 diabetes. Results Altogether 1645 children (22%) tested positive for at least one diabetes-associated autoantibody, and 248 (15%) of the seroconverters progressed to type 1 diabetes by the end of 2015. The median time from seroconversion to diagnosis was 0.51 years in rapid progressors (n=42, 17%), and 5.4 years in slower progressors. Rapid progression was observed both among young and early pubertal children. Compared to slower progressors, rapid progressors had higher frequency of multipositivity, higher titres of ICA, IAA, and IA-2A at seroconversion, and higher prevalence of the secretor genotype in the FUT2 gene. Compared to autoantibody-positive non-progressors, rapid progressors were younger, carried more often the high-risk HLA genotype, the FUT2 secretor genotype, and a predisposing SNP in the PTPN22 gene, had higher frequency of ICA, IAA, GADA, IA-2A, and multipositivity, and higher titres of all four autoantibodies at seroconversion. Conclusions At seroconversion, individuals with rapid progression to type 1 diabetes are characterised by young age, higher autoantibody titres, positivity for multiple autoantibodies, and higher prevalence of a FUT2 SNP. The double-peak profile of seroconversion age among the rapid progressors demonstrates for the first time that rapid progression may take place not only in young children, but also in children in early puberty. Rapid progressors might benefit from careful clinical follow-up and early preventive measures.
  • Hukkinen, Maria (2010)
    Tupakointitutkimukset keskittyvät perinteisesti säännöllisesti tai runsaasti tupakoiviin. Koska ei ole osoitettu mitään terveyden kannalta haitattoman tupakoinnin rajaa, määrältään vähäisenkin tupakoinnin tutkiminen on tärkeää. Tutkielman tavoitteina oli analysoida päivittäin 1-4 savuketta polttavien ominaispiirteitä, tupakointitottumusten pysyvyyttä sekä tupakointitavan muutosta ennustavia tekijöitä. Tutkimuksessa käytettiin vuosina 1975, 1981 ja 1990 kerätyn suomalaisen kaksoskohorttitutkimuksen kyselyaineistoa. Vuoden 1975 aineistossa oli 9 940 päivittäistupakoitsijaa, joista 8% poltti alle 5 ja 20% vähintään 20 savuketta päivässä. Tutkimuksessa verrattiin päivittäin vähän ja paljon polttavien ominaispiirteitä. Vähän tupakoivat olivat todennäköisemmin naisia, yksin eläviä, liikunnallisia, korkeammin koulutettuja, elämäänsä tyytyväisiä ja vähemmän stressaantuneita kuin runsaasti polttavat. Pienempi osuus vähemmän tupakoivista käytti runsaasti kahvia ja alkoholia tai tupakoidessaan hengitti savua keuhkoihin. Pitkittäistarkastelussa ikä, koulutusaste, siviilisäädyn muutos ja alkoholin käyttö ennustivat tupakointitapojen muuttumista. Yksilötasolla vähäinen tupakointi oli usein väliaikaista: seuranta-aikana valtaosa lopetti tupakoinnin tai lisäsi savukemäärää. Väestötasolla vähän tupakoivien osuus pysytteli samana: tupakoinnin aloittajia, vähentäjiä sekä aiemmin lopettaneita mutta uudelleen aloittaneita siirtyi tähän ryhmään.
  • Vasara, Henri; Toppari, Linda; Harjola, Veli-Pekka; Virtanen, Kaisa; Castren, Maaret; Kobylin, Arja (2022)
    Background and purpose The incidence of electric scooter (e-scooter) injuries has increased drastically in numerous countries after widespread availability of shared e-scooters. The economic impact on society from a broader perspective has not been studied. We aimed to estimate the incidence of e-scooter injuries, describe the injury patterns, and estimate the costs of e-scooter injuries. Patients and methods: We performed a retrospective cohort study including all e-scooter-related injuries presented in the three adult emergency departments in Helsinki in 2021. We collected the patient data from the university hospital information system. Injury severity was evaluated based on the Abbreviated Injury Score. The cost of the hospital treatment was analyzed based on our hospital district’s service price listing. In addition, we recorded the total amount of sick leave days and estimated their economic impact. Results In total, 446 e-scooter injuries were identified and taken into the analysis (434 affecting riders and 12 non- riders). The median age of the patients was 26 (IQR 22–33), and 59% were male. 257 (58%) of the of the injuries were minor, whereas 155 (35%) were moderate, 30 (7%) serious, 3 (0.7%) severe, and one (0.2%) critical. Furthermore, 220 (49%) of the patients sustained head injuries. A major spike in accident incidence was seen during the weekend (Friday to Sunday) nights, accompanied by a proportional increase in patients with alcohol intoxication. Including both the costs of the hospital care and absence from work, the approximated total cost of e-scooter injuries was 1.7 million euros, with a median cost of a single accident being 1148 euros (IQR 399–4263 €). Interpretation: Considerable number of the injuries are moderate, severe, or worse. Comprehensive preventive measures must be conducted to decrease the incidence of e-scooter injuries. The use of helmets should be strongly encouraged to prevent severe head injuries. The nighttime bans during weekends and speed limits on e-scooters appear to be justifiable.
  • Oulasvirta, Elias; Koroknay-Pál, Päivi; Hafez, Ahmad; Elseoud, Ahmed Abou; Lehto, Hanna; Laakso, Aki (2017)
    BACKGROUND: Population-based long-term data on pediatric patients with cerebral arteriovenous malformations (AVMs) are limited. OBJECTIVE: To clarify the characteristics and long-term outcome of pediatric patients with AVM. METHODS: A retrospective analysis was performed on 805 consecutive brain AVM patients admitted to a single center between 1942 and 2014. The patients were defined as children if they were under 18 yr at admission. Children were compared to an adult cohort. Changing patterns of presentation were also analyzed by decades of admission. RESULTS: The patients comprised 127 children with a mean age of 12 yr. The mean follow-up time was 21 yr (range 0-62). Children presented more often with intracerebral hemorrhage (ICH) but less often with epilepsy than adults. Basal ganglia, cerebellar, and posterior paracallosal AVMs were more common in pediatric than in adult patients. Frontal and temporal AVMs, in contrast, were more common in adult than in pediatric patients. As the number of incidentally and epilepsy-diagnosed AVMs increased, ICH rates dropped in both cohorts. In total, 22 (82%) pediatric and 108 (39%) adult deaths were assessed as AVM related. After multivariate analysis, small AVM size and surgical treatment correlated with a favorable long-term outcome. CONCLUSION: Hemorrhagic presentation was more common in children than in adults. This was also reflected as lower prevalence of epileptic presentation in the pediatric cohort. Lobar and cortical AVM locations were less frequent, whereas deep and cerebellar AVMs were more common in children. Hemorrhagic presentation correlated negatively with incidentally and epilepsy-diagnosed AVMs. In children, AVM was a major cause of death, but in adults, other factors contributed more commonly to mortality.
  • Löfgren, Maja; Hirvikangas, Roope; Snäll, Johanna; Uittamo, Johanna (2019)
    Objectives Odontogenic infections are potentially life threatening especially in immunocompromised patients. The study aimed to investigate predisposing factors for the severity of odontogenic infections, particularly hospital admission and inflammatory parameters. Materials and Methods A prospective clinical study and a questionnaire survey were designed and implemented. The outcome variable was hospitalization, and secondary outcome variables were inflammatory parameters C-reactive protein (CRP) value, white blood cell (WBC) count and body temperature. The primary predictor variables were treatment delay, preceding visits to health services before referral to hospital, focus of infection identified before referral, site of infection focus, postoperative infection because of elective tooth extraction, and previous treatment of infection. Explanatory variables were age, gender, current smoking, heavy alcohol use, disease history and education. Results A total of 88 patients were included to the analysis. Patients’ disease history in general was not significant for hospitalization or infection parameters. Lower education level associated with hospitalization (p=0.033) and leucocytosis was significantly higher in basic level educated patients (p=0.036). In addition, leucocytosis correlated significantly with mandibular infections (p=0.008), previously unidentified infection focus (p=0.010), and with infection due to an elective tooth extraction (p=0.026). Elderly patients were not more prone to more severe infections. Neither gender, current smoking nor heavy alcohol use proved significant for infection severity. Conclusions and clinical relevance Lower education elevates the risk for hospitalization and severe odontogenic infections. Lack of regular dental care or economic challenges can explain this finding.
  • Lehtonen, Essi; Mäkinen, Sirpa; Ahinko, Katja; Haltia, Anni; Perheentupa, Antti; Simberg, Niklas; Tòmas, Candido; Tiitinen, Aila; Martikainen, Hannu; Tapanainen, Juha; Veleva, Zdravka (2020)
    Kaksoisraskaudet lisäävät riskiä sekä peri- että postnataalisiin komplikaatioihin. Suomessa onkin 2000-luvun aikana siirrytty hedelmöityshoidoissa kahden alkion siirrosta yhden alkion siirtoihin kaksoisraskauksien vähentämiseksi, ja vuonna 2018 Suomessa tehdyistä IVF/ICSI-hoidoista yli 95 prosentissa siirrettiin vain yksi alkio. Väestön normaalijakaumasta tehdyt tutkimukset ovat kuitenkin osoittaneet, että useat parit toivovat saavansa useamman kuin yhden lapsen. Tästä syystä koimme tärkeäksi selvittää, mitkä ensimmäiseen IVF/ICSI-hoitokertaan liittyvät ennustavat onnistumista myös myöhemmissä hoidoissa. Tutkimukseen sisällytettiin naiset, jotka vuosina 2000-2017 aloittivat IVF/ICSI-hoidot ja joille siirrettiin yksi alkio ensimmäisellä hoitokerralla. Tutkimuksen ulkopuolelle rajattiin kaksoset tai kolmoset synnyttäneet naiset. Aineisto kerättiin kansallisesta LUMI-tietokannasta ja analysoitiin SPSS-ohjelmalla. Totesimme, että suurin osa aineiston naisista sai vain yhden lapsen, mutta yli puolet (62 %) heistä, jotka hakeutuivat ensimmäisen syntymän jälkeen uudelleen hoitoon, saivat vähintään yhden lapsen lisää. Keskimäärin potilaat tarvitsivat vain yhden uuden munasarjojen stimulaatiohoidon saadakseen toisen lapsen. Ensimmäisen hoitokerran tekijät, jotka ennustivat onnistumista myös myöhemmissä hoidoissa, olivat naisen ikä, syntymä ensimmäisessä hoitosyklissä sekä gonadotropiinin määrä suhteessa munasolujen määrään. Alkioiden laadun arvioon on kehitetty erilaisia menetelmiä, ja tutkimuksessa todettiin, että parhaimman arvosanan saaneiden alkioiden määrä lisäsi todennäköisyyttä onnistua myöhemmissä hoidoissa, mikäli niitä oli useampi kuin yksi. Lapsia oli kuitenkin mahdollista saada useampi, vaikkei laadukkaimpia alkioita ollut yhtäkään.
  • Ervaala, Attina (2021)
    Pre-eklampsia on globaali ongelma, mikä komplisoi 2–8 % raskauksista. Pre-eklampsiassa normaalisti sikiötä äidin immuunipuolustukselta suojaavien tekijöiden säätely on häiriintynyt. Tutkimuksen tarkoituksena oli selvittää pre-eklampsian riskiä ja luonnetta luovutetuilla sukusoluilla saavutetuissa raskauksissa. Koska luovutetut sukusolut eroavat immunologisesti normaalia enemmän kantajastaan, hypoteesiksi asetettiin, että näissä raskauksissa pre-eklampsiaa esiintyy enemmän. Myös kirjallisuuden mukaan näissä raskauksissa vaikuttaisi olevan pre-eklampsiaa enemmän (38–20 %). Aineistona oli Finnish Genetics of Preeclampsia Consortium (FINNPEC) kohortti (n=2778). Tässä pre-eklampsia määriteltiin seuraavasti: 1. yli 140 mmHg:n systolinen verenpaine sekä 2. proteinuria (virtsan proteiini ≥0·3 g/24 h tai 0·3 g/L tai kaksi ≥1+ tulosta liuskatestissä) ja 3. näiden ilmeneminen H20 jälkeen. Näillä kriteereillä verrattiin luovutetuilla sukusoluilla saavutettuja raskauksia (n=21) muihin raskauksiin (n=2757). Väestötason esiintyvyys pre-eklampsian suhteen saatiin terveyden ja hyvinvoinnin laitoksen syntyneiden lasten rekisteristä. Tutkimuksen tuloksena todettiin pre-eklampsiaa esiintyvän enemmän luovutetuilla sukusoluilla saavutetuissa raskauksissa. Muita riskitekijöitä olivat muun muassa äidin korkeampi ikä ja sikiön miessukupuoli. Pre-eklampsiaraskauksia vertailtaessa luovutetuilla sukusoluilla saavutetuissa raskauksissa esiintyi enemmän ennenaikaisia synnytyksiä, ja pre-eklampsia diagnosoitiin aiemmin kuin muissa raskauksissa. Luovutettujen sukusolujen raskauksista ei löydetty tilastollisesti merkittäviä eroja raskauksien luonteissa luovutettujen siittiöiden ja munasolujen välillä, mutta näyttäisi siltä, että riskit ovat isommat luovutetuilla munasoluilla alkaneissa raskauksissa. Tulokset tukevat aikaisempia tutkimustuloksia, vaikka otanta olikin pieni. Tilastollisten merkitsevien erojen puuttumisesta huolimatta tutkimus mahdollisti lisätiedon saamisen sikiön sukupuolen ja vieraiden antigeenien merkityksestä.