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  • Salo, Ville (2021)
    Eturauhassyöpä koskettaa yhä useampaa miestä ja sen diagnostiikkaan on kehitetty useita kuvantamismenetelmiä. Positroniemissiotomografia tietokonetomografiaan yhdistettynä on rutiinikäytössä oleva kuvantamistapa, jossa yhdistyy tietokonetomografilla saatava anatominen tarkkuus positroniemissiotomografian kykyyn kuvantaa metabolisten prosessien tai eri substraattien pitoisuuksien vaihteluita. Retrospektiivisen tutkimuksen tekohetkellä HUS:n Kliinisen fysiologian ja isotooppilääketieteen yksikössä oli siirrytty eturauhassyövän ja eturauhassyövän kemiallisen relapsin PET/TT-kuvantamisessa 18F-koliinista 68Ga-PSMA-merkkiaineeseen, eikä näiden kahden merkkiaineen välillä oltu vielä tehty vertailua. Tutkimukseen valittiin 143 potilasta, joista noin puolet oli kuvattu 18F-koliinilla ja puolet 68Ga-PSMA:lla. PET-kuvantamisen tuloksia verrattiin TT-kuvantamisen tuloksiin ja tuloksista laskettiin tilastollisissa suureita: p-arvo, sensitiivisyys/spesifisyys ja PPV/NPV. Tuloksista nähdään, että PET:lla todetaan tarkemmin leesioita ja metastaaseja kuin TT:lla. Merkkiaineiden välillä ei pystytty tekemään suoraa vertailua, koska potilaat oli jaettu kahteen ryhmään missä kummassakin käytettiin vain yhtä merkkiainetta. Epäsuorasta vertailusta nähtiin, että 18F-koliini tuotti hieman varmemmin luotettavia tuloksia 68Ga-PSMA:aan verrattuna.
  • Harmaja, Reetta (2021)
    Assessing children’s early communication skills is important for preventing possible later language difficulties. The Finnish version of Communication and Symbolic Behavior Scales, Developmental Profile (FinCSBS) is a screening tool in which parents assess their 6-24 months old child’s development in social communication, understanding and speech. Earlier studies have found connections between early communication skills and later language development. However, these language tests have been limited. The aim of this study was to examine the usability of FinCSBS for assessing 2-year-old children and the possible associations of their early communication skills with receptive and expressive language, naming and the use of inflectional forms at 3,5 years of age. This study sample is part of the validation study of the short form version of the MacArthur Communication Inventories Finnish version (Sanaseula study). Participants (N=50) were typically developed children from monolingual Finnish families. Parents filled out the FinCSBS checklist when their children were 2 years old. The same children were assessed again at 3,5 years of age with different tests (Reynell Developmental Language Scales III, Boston Naming Test and Finnish Morfological Test). Associations between early communications skills and later language skills were studied by using Spearman’s correlation coefficient and logistical regression analysis. The stability of skills was examined by comparing whether there were differencies in later language skills between those who had succeeded poorly, typically or well earlier in FinCSBS. There were no correlations between the total scores of FinCSBS at 2 years of age and language skills year and a half later. However, this study shows a trend that the level of competence is a rather stable quality so that weak early communications skills will manifest later on as weak language skills. In this study, early understanding did correlate with a later ability to use inflectional forms. It is recommended to use FinCSBS with typically developing children earlier than at 2 years of age when the prelinguistic period is ending and most children will get high scores in the assessment.
  • Toivanen, Salla (2021)
    Objectives. The aim of this study was to describe, in a single and consecutive way, self-repairs of bilingual children in a play situation and to investigate their possible differences between groups. The aim was to increase information on how and what kind of corrections children at different levels of language do, and how the level of language management affects the quality of self-corrections in Finnish. The research questions were what kind of corrections children make, how they start self-repairing and where the repairs are directed. It was also examined whether the groups differed and, if so, how. Methods. A total of 30 were supported, of whom 15 were monolingual and 15 consecutive bilingual children. The L2 language of all children was Finnish and the linguistic development of all the researchers was typical. The study methods were observation and analysis of literates. The data was analyzed both qualitatively and statistically. Elan annotation programme and SPSS statistics programme were used to analyze the data. Results and reflection. Monolingual children produced more self-repairs than bilingual children. Compared to the total number, the share of self-corrections for bilingual children was slightly higher than that of monolingual children. Both monolingual and bilingual children did the most self-repairs by searching for the next word. In the group of monolingual children, the biggest remedy was speech interruptions, while for bilinguals the largest group were different sounds. Self-repairs by both groups most often targeted the sledge hams. The results are partly in line with previous research data. However, previous studies have found that novice bilingual children prefer repetition in their self-repairs. In this study, on the other hand, monolingual children took more initiatives by repeating bilingual control.
  • Honkamaa, Milla (2022)
    Objectives. Narrative production demands coordination of many linguistic and cognitive skills and therefore it is considered as a multifaceted measurement tool in assessing children’s linguistic skills. Narratives can be observed at global and local levels, in other words through macro- and microstructures. Previous studies have shown contradictory results regarding the ability to distinguish children with developmental language disorder (DLD) from typically developing peers by examining the narrative macrostructures. Regarding the issue, there is a limited research data when examining Finnish as a second language. In this thesis the narrative macrostructures are examined in successive bilingual children with typical and atypical language development. The objective of this thesis is to examine qualitatively the macrostructures, especially story grammar and episodic GAO-structures of the narratives and the qualitative features appearing in above mentioned and in overall structures of the narratives. The thesis aims to clarify the differences and similarities between the typically developed children and children with DLD. Methods. The sample of this thesis was collected in 2021 as a part of the MULTILINGUA -research project. The sample consists of narrative assessments of eight successively bilingual 7- year-old children, four with a typical development and four with a suspected language disorder. The assessments were made with the Kissatarina assessment tool developed by Leena Mäkinen (2019). A theory-based approach was used in the analysis of the story grammar and furthermore the narratives were analyzed qualitatively through a data-driven approach. For the analysis of the story grammar, a scoring template was made using Stein and Glenn’s (1979) story grammar model and the information scoring in the Kissatarina. The expressions children used in the macrostructural elements in their narratives were analyzed in the light of the data, focus being on the settings, episodic structures, and the overall structures of the narratives. Results and conclusions. Overall production of the story grammar elements was poorer with children in the DLD-group in comparison to the children with typical development. In addition, the individual variation within the DLD-group was greater. Differences between the groups appeared most evident in the production of the narrative’s initiating events and expressing characters’ internal reactions and emotions, in which the children in the DLD-group showed weaker performance. For the qualitative analysis, typically developed children mainly produced more complex and coherent narratives. In all examined areas the qualitative differences between individuals were evident. The results of this thesis reveal that assessing the macrostructures in narratives might help in differentiating children with DLD from typically developing children.
  • Soini, Heli (2018)
    Study aims. Human voice is the main element of speech and a tool of self-expression. Thus, a disordered voice may have a major impact on a person’s life. So far the research of subjective experiences of voice disorders carried out via qualitative methods has been scarce. Yet these methods enable an in-depth examination of the phenomenon that may expand our understanding of voice disorders as a field of logopedics. The aim of this study was to increase knowledge about voice disorders by examining how the effects of voice disorders may be seen in everyday life. The focus was in functioning, participation, coping strategies and emotional experiencing of voice disorders. Methods. The study is a multi-case study based on semi-structured theme-interviews. The interviewees were recruited in June and July 2016 from the HYKS Phoniatric Outpatient Clinic, where they were treated. Altogether seven persons, aged from 44−64, took part in the study: one man and six women. Each person was interviewed once. The data analysis was done by using thematic analysis and theory-based content analysis. Results and conclusions. Voice disorders had clear negative impact on functioning and participation. The hamper resulted from physical features of voice together with situational features. Participation was also affected by the action of communication partners and the interviewees’ own reactions towards their voice and difficult situations. Voice disorders required both functional and emotional adjusting to the changed voice. Experience was that voice disorders hindered communication, self-expression, social and professional life as well as free time activities. They were also emotionally straining and negatively impacted the mood. Voice was also related to interviewees’ thoughts about themselves. Altogether voice disorders affected life comprehensively restraining normal everyday life. This study shows that there are notable similarities in the voice disorder experiences, however the value given to these experiences depends on how individuals evaluate their effect. The clinical merit of this study is that it emphasizes the significance of processing the emotional aspects of voice disorders and it encourages to take those aspects, as well as the used coping strategies, into account more carefully than they are in current voice rehabilitation.
  • Markkinen, Eeva (2021)
    Aims of the study. Actors, singers and other professional voice users are at a high risk of experiencing voice problems during their careers. The biggest reasons for this are heavy vocal load and the voice user’s internal and external factors. Voice professionals’ voice problems are common, even though the awareness of vocal health and the knowledge and the use of voice care are good. This study aims to map self-reported voice problems and the occupation-spesific special features of voice use in adult voice actors working in Finland. The aim of the survey was to find out what kinds of vocal symptoms exist and how they affect the voice actors’ psycho-social well-being. Moreover the prevalence of risk factors and their connection to voice symptoms was searched. Voice actors’ voice care was also mapped. The aim of this study is to create new knowledge of an unresearched occupation. Methods. The research material was collected using an electronic survey. The survey was created for this research. The survey consisted of research-spesific sections and included both validated sections that had been translated to Finnish (Screen11 and Voice Handicap Index) and sections that were created for this research. In the survey there were both open and closed questions. 24 voice actors answered the questionnaire. The analysis of the research material was done with SPSS. In the qualitative analysis the questions were typificated, compiled to statistics and example answers were chosen. The statistic analysis was used to find out the prevalence of certain phenomena. Saphiro-Wilk normality test was conducted and on basis of the results correlations and the non-parametric Mann-Whitney U -test were chosen over parametric tests. These tests aimed to find out the connections of dependent and independent variables. Results and conclusions. The participating voice actors didn’t report having voice problems within the 12 month period under consideration. Thus voice problems didn’t affect the participants’ experince of psycho-social competence. Other questions, however, revealed a prevalence of 79,2% voice problems. There was no connection of risk factors, such as using demanding voice qualities, to vocal symptoms or the psycho-social experince. Voice actors had searched for and had reseived help from professionals, such as phoniatrists and speech therapists. The experiences of the benefits varied. Nearly all given voice care means were in use. Because the research material was limited and the survey would need some adjustment, more research is needed. This research offers some guidelines in the study of voice actors’ voice problems, but on basis of this research conclusions or generalisations of the prevalence of voice problems or risk factors can’t be made.
  • Patronen, Senni (2021)
    Aims: The aim of this study was to test the feasibility of a new phonemic awareness test to study children who have potential problems in their reading skills. The children were second graders whose reading skills either had or had not caused worry at home or school. The phonemic awareness test was developed for investigating and providing intervention on phonemic awareness. This new method includes ten different ways to change phonemes in a word. We determined if some of these phonemic changes are better at separating the groups from each other and whether there are differences between the tasks in the degree of difficulty. In addition, the children were also tested with standardized neuropsychological tests that measure reading-related skills. The study was done completely remotely and one of its aims was also to get additional information on feasibility of neuropsychological testing in remote environments. Methods: 16 participants took part in the study. Eight of them were children whose reading skills had caused worry and other eight whose reading skills had not caused such worry. The study was done remotely using Zoom and the experiment took about 1-1,5 hours depending on how quickly the child completed the tasks. There were 11 tasks altogether, which assessed the child’s reading and writing skills and skills that can affect these, such as phonological skills, working memory and rapid naming. Results: The groups differed from each other almost in every standardized test and also in the new phonemic awareness test. In the new phonemic awareness test children who had caused worry on their reading skills got less points in every part, but the groups differed statistically significantly in five of them only. These five included changing the beginning or the ending of the word, diphthong, diphthong to long vowel and changing a vowel to a consonant. The degree of difficulty varied between the subtests of the phonemic awareness task, the pattern of performance being comparable in the two groups. Detecting differences between word beginnings and syllables was the easiest and detecting diphthong and vowel to consonant or consonant to vowel changes were the most difficult. These results are promising, suggesting that the phonemic awareness test could serve to identify problems in phonemic awareness in children whose reading skills are suspected to be poor. This study also suggested the feasibility of carrying out neuropsychological tests remotely.
  • Rantala, Aleksi (2017)
    Objective: There is known to be a strong connection between hand movements and speech in humans. This has emerged for example in experiments where subjects pronounce syllables and simultaneously move their arm either towards or away from their body. The subjects produce both the hand movement and the pronunciation of syllables the fastest when the direction of the movement and the syllable are congruent. The original explanation for this was that the sounds that are congruent with the push movement, like [i] and [t], are made by pushing the tongue forward as well. Likewise, the sounds that are congruent with the pull movement, like [a] and [k], are made by a pull movement of the tongue. The objective of this study is to take a more precise look at this so-called direction-sound effect. The aim is to examine whether the effect is really caused by the overlap of the motor representations of hand and tongue, like it was originally interpreted, or if it is caused by some properties of sounds other than their horizontal movement direction. Methods: The direction-sound effect was studied in five experiments. In each experiment the subjects were presented with two different syllables, from which the other was supposed to be congruent with push hand movements and the other with pull hand movements. The subjects read each syllable out loud and performed simultaneously either a push or pull movement with a joystick according to the colour of the syllable. Experiments 1 and 2 tested whether the direction-sound effect emerges with consonants. Experiments 3, 4, and 5 tested whether the effect emerges when the vowels differ in one of their properties. In experiment 3 the vowels differed in openness, in experiment 4 they differed in frontness, and in experiment 5 in roundedness. 19-20 subjects participated in each experiment. Results and conclusions. In experiments 3 and 4 the syllables pronounced by the subjects, and the direction of their hand movement, had a statistically significant interaction to the reaction times of both the hand movements and the pronunciation of the syllables. There was not a similar interaction in experiments 1, 2, or 5. According to the results, vowels [ø] and [i] are congruent with the push hand movement and vowels [o] ja [æ] with the pull hand movement. The direction-sound effect does not seem to emerge with consonants but only with vowels. With vowels the effect seems to emerge when the vowels differ in their frontness and possibly in openness, but not when they differ in roundedness. The results bring more knowledge about how the speech movements of different parts of the mouth are represented when pronouncing vowels and consonants. The results also shed more light on previous speculations about which kind of sounds are universally associated with words referring to different directions across different languages.
  • Sorakunnas, Eero (2021)
    Tausta Lapsen äärimmäinen pitkäkasvuisuus (eli pituus ≥+3 keskihajontaa (SD) yli ikä- ja sukupuolikohtaisen keskiarvon) on yleinen syy lapsen lähettämiseen erikoissairaanhoitoon jatkotutkimuksiin. Kuitenkaan kattavaa tutkimusnäyttöä äärimmäisen pitkäkasvuisuuden etiologiasta ei ole julkaistu. Tutkimuksessamme raportoimme lasten äärimmäisen pitkäkasvuisuuden etiologian, syndroomisiin kasvuhäiriöihin liittyvien kliinisten piirteiden yleisyyden sekä syndroomiselle pitkäkasvuisuudelle tyypilliset auksologisiset piirteet. Oletamme, että tutkimusaineistomme kuvaa hyvin populaatiotasoa, sillä Suomessa lasten pituuskasvua seurataan ja kasvun poikkeavuuksia seulotaan kattavasti ja systemaattisesti. Aineisto ja menetelmät Tutkimusaineistoon valikoimme Helsingin yliopistollisen keskussairaalan alueelta lapset, jotka olivat syntyneet 1990 ja 2010 välisenä aikana ja joiden suhteellisen pituus oli ≥+3 SD kolmannen ikävuoden jälkeen. Identifioimme pitkäkasvuiset lapset Helsingin yliopistollisen keskussairaalan alueen kasvutietojärjestelmästä, ja tutkittavien sähköiset potilaskertomukset käytiin kattavasti läpi joulukuuhun 2020 asti diagnostisten tutkimusten tulosten, oheissairauksien, kliinisten piirteiden ja kasvuparametrien keräämiseksi. Löydökset Sisäänottokriteerien perusteella tutkimusaineistoon valikoitui 424 tutkittavaa (214 tyttöä, 210 poikaa). Pitkäkasvuisuuden taustalla todettiin primaarinen tai sekundaarinen kasvuhäiriö 61:llä (14 %) potilaalla, joista tyttöjä oli 36 (17 %) ja poikia 25 (12 %) (p=0,15). Sekundaarinen kasvuhäiriö diagnosoitiin 42:lla (10 %) potilaalla. Kaksi yleisintä sekundaarista syytä olivat sentraalinen ennenaikainen murrosikä ja ennenaikainen adrenarke, jotka olivat yleisempiä tytöillä. Primaarinen kasvuhäiriö todettiin 19 potilaalla (4 %), joista yleisimpiä olivat Marfanin ja Sotosin oireyhtymät. Osana pitkäkasvuisuuden diagnostiikkaa geenitestejä käytettiin 120 lapsella. Sen sijaan geenipaneeleja ja array-tutkimuksia käytettiin harvoin. Dysmorfisia piirteitä tai neurologisen kehityksen ongelmia todettiin 104:llä (29 %) idiopaattisesti pitkäkasvuisilla lapsilla. Primaarisen kasvuhäiriön todennäköisyys assosioitui kasvuhäiriön asteeseen, suhteellisen pituuden poikkeamaan odotuspituudesta sekä kasvunopeuteen (pituuden SD:n muutokseen) Pohdinta Huomattavalla osalla äärimmäisen pitkäkasvuisista lapsista todettiin poikkeavan kasvun taustalla primaarinen tai sekundaarinen kasvuhäiriö. Primaarisiin sekä sekundaarisiin kasvuhäiriöihin liittyi tunnusomainen kasvutapa; primaarista kasvuhäiriötä sairastavat keskittyivät aineiston pisimpien joukkoon, sekundaarista syytä sairastavat taas kasvoivat keskimääräistä nopeammin. Syndroomisiin kasvuhäiriöihin liittyviä kliinisiä piirteitä todettiin yllättävän usein idiopaattisesti pitkäkasvuisilla lapsilla. Löydöksemme viittaavat siihen, että idiopaattisesti pitkien lasten joukossa oli fenotyypiltään lieviä syndroomisesti pitkäkasvuisia lapsia, joita ei ollut molekyyligeneettisesti diagnosoitu. Tuloksemme viittaavat siihen, että aktiivisella, uuden sukupolven molekyyligeneettisten testien käytöllä voidaan tarkentaa diagnostiikkaa äärimmäisen pitkäkasvuisten lasten kohdalla. Tutkimuksemme tarjoaa työkaluja äärimmäisten pitkäkasvuisten lasten jatkotutkimuksiin ja erotusdiagnostiikkaan
  • Jokela, Tomi; Sarkanen, Tomi; Alakuijala, Anniina; Toppila, Jussi (2019)
    Unen laadun tutkimisen kultainen standardi on polysomnografia-tutkimus (PSG), jossa potilaalta rekisteröidään aivosähkökäyrien lisäksi muun muassa hengityksen ilmavirtaus, rintakehän hengitysliikkeet, silmien liikkeet, sekä EKG. Näiden avulla saadaan kokonaisvaltainen kuva potilaan unen laadusta ja tutkimusta käytetäänkin erinäisten unihäiriöiden kuten uniapnean, narkolepsian, sekä levottomien jalkojen oireyhtymän diagnosoinnissa. PSG on kuitenkin verrannollisen kallis tutkimus sen suorittavalle yksikölle ja vaivalloinen potilaalle, sillä tämä joutuu nukkumaan tutkimuslaitteisto päällään tutkimusyönä. Näistä syistä PSG:n rinnalle on pyritty kehittämään vaihtoehtoisia unen laadun tutkimusmenetelmiä. Aktigrafilla tarkoitetaan potilaaseen kiinnitettyä kiihtyvyysanturia, joka rekisteröi potilaan liikkeitä. Käytännössä tämä tarkoittaa yleensä ranteeseen kiinnitettävää älykellomaista laitetta. Aktigrafia voidaan käyttää päivänaikaisen aktiivisuuden seuraamisen lisäksi myös potilaan unenaikaisen liikehdinnän mittaamiseen, minkä vuoksi sillä on myös unilääketieteen kannalta hyödyllisiä käyttötarkoituksia. Tässä tutkimuksessa pyrittiin tutkimaan aktigrafin tarkkuutta mittaamaan seuraavia parametrejä, vertaamalla niitä PSG-tutkimuksen vastaaviin arvoihin: unen pituus, unen tehokkuus, nukahtamislatenssi, sekä havahtumisindeksi. Tutkimuksen 281 potilasta nukkuivat tutkimusyönä sekä PSG-, että aktigrafi-laitteistot yllään, jolloin saatiin vertailukelpoista dataa tutkimusmenetelmien välillä. Tämän jälkeen data analysoitiin Bland-Altman-metodia käyttäen, mikä on erityisen sopiva, kun verrataan kahdella tutkimusmenetelmällä mitattua dataa toisiinsa. Data-analyysissä otettiin myös huomioon potilaiden erinäiset diagnosoidut unihäiriöt jakamalla potilaat diagnoosikategorioihin, jotta voitiin arvioida, huononeeko aktigrafin tarkkuus, jos tutkittava kärsii unihäiriöstä. Tutkimuksessa selvisi, että aktigrafi on melkein PSG:n veroinen unen pituuden, sekä unen laadun arvioimisessa, vaikka potilas kärsisi unihäiriöstä. Aktigrafin tarkkuus kumminkin vaikuttaa jonkin verran laskevan mitä epätehokkaampaa potilaan uni on.
  • Kjäldman, Magnus Eliel (2015)
    Accurate pre-operative identification and grading of soft tissue sarcomas is required for their correct treatment. While core needle biopsy has been recognized accurate for identifying and grading soft tissue sarcomas, data is still lacking on diagnostic errors, their underlying reasons and the effects any errors may have on patient treatment. We retrospectively analysed data on all 313 patients treated for soft tissue sarcomas of the trunk and extremities whose core needle biopsies were analysed between 2000 and 2012 at Helsinki University Central Hospital. The final analysis included 297 patients with a primary soft tissue sarcoma who had their surgical specimen evaluated at Helsinki University Central Hospital. We found 48 diagnostic errors with the ability to affect subsequent treatment: 19 nonsarcomatous, 25 incorrect low-grade and five pre-operative diagnoses with errors in subtype. Core needle biopsies of myxoid soft tissue sarcomas appeared challenging to interpret. Twenty-five treatment inaccuracies were found in 18 patients, twelve of these were related to inadequate surgery and one had not received chemotherapy. On re-examination of the core needle biopsy, we reached the correct diagnosis in 20 patients. In addition six patients got a more correct diagnosis. Core needle biopsy is reliable for identifying mesenchymal malignancy and guiding treatment planning at our institution. We recommend it for diagnosis of all soft tissue sarcoma suspicious tumours with interpretation done by an experienced soft tissue sarcoma pathologist. Special caution must be taken when evaluating myxoid tumours.
  • Lunkka, Pipsa; Malila, Nea; Ryynänen, Heidi; Heikkinen, Sanna; Sallinen, Ville; Koskenvuo, Laura (2020)
    Background: The population-based Finnish Cancer Registry (FCR) is an important resource for research and healthcare politics in Finland. The aim of this study was to validate the accuracy of the colorectal cancer (CRC) data within the FCR. Material and Methods: FCR data is based on independent cancer report forms (CRFs) from both clinicians and pathologists. Data from patients diagnosed with CRC during a randomized, population-based CRC screening program between 2004 and 2012 were extracted from the FCR and compared to data extracted from the original clinical patient records of these individuals by two gastrointestinal surgeons. The study focused on tumour characteristics and primary treatment. Accuracy was measured by calculating Cohen´s kappa coefficient (k), which considers the possibility of agreement by chance. Results: Altogether, 1475 patients were studied. k was 0.74 for stage, 0.87 for tumour location (right/left), 0.78 for a more detailed location, 0.72 for tumour histology, 0.46 for surgical removal of the primary tumour, and 0.43 for chemotherapy. Among those who underwent surgery, the radicality of surgical treatment had a k of 0.24. In total, 173 (12%) patients were lacking a CRF from a clinician. Conclusion: The FCR data had good accuracy regarding tumour characteristics, but poor accuracy in treatment information. The main reason for this suboptimal accuracy was missing CRFs from treating clinicians. Awareness of these findings is crucial when research and decision making is based on FCR data. Measures have since been taken to improve the completeness of FCR recording.
  • Adhikari, Sadiksha (2020)
    Structural variants comprise a large number of variations occurring in the human genome and are detected in many diseases including cancers. To a limited extent, whole exome sequencing (WES) is capable of detecting structural variations (SVs) using algorithms and tools utilizing local assembly, split-reads, discordant read-pairs and read depth methods. However, due to the significantly large size of SVs compared to the reads produced and the presence of repetitive regions in the genome, identification of SVs presents a major challenge. 10X Genomics has developed a technology that requires very low amounts of DNA and uses a linked-reads approach to produce long reads. Recently, linked-read technology has shown promising results in resolving complex SVs. In this thesis, we aimed to assess whether linked-read exome sequencing is able to infer more comprehensive information in SVs compared to WES in multiple myeloma (MM). The disease model was chosen based on the presence of high numbers of SVs in MM patient tumor cells. Here, we report that linked-read sequencing has led to the identification of a potential novel translocation t(1; 14) that significantly impacts the change in expression of genes and could potentially have impact on the prognosis and treatment of multiple myeloma patients. By Long Ranger analysis we detected t(1;14) in six out of eight samples. Further, to study whether the translocation differentially affects the expression levels of any genes, differential gene expression was performed between t(1;14) positive versus t(1;14) wild type samples. The analysis resulted in 107 differentially expressed genes where 4 upregulated and 103 downregulated genes were found in the translocation positive samples. Among the downregulated genes, we found S100A8 and S100A9 genes which are previously shown to be associated with chemoresistance to PAD (bortezomib, doxorubicin and dexamethasone) therapy. The related breakpoints of the event were identified by Manta tool (SV caller) using both linked-read and WES. Therefore, linked-read information does not appear necessary to detect this event. In this study, we found that linked-read sequencing has certain advantages over WES such as low input DNA, increased number and quality of calls and breakpoint information. However, linked-read sequencing technique is limited to the detection of certain SV types in addition to increased cost of sequencing. These two factors must be considered before choosing linked-read sequencing over WES. Somatic mutations and clinically relevant SV were detected equally efficiently by both techniques.
  • Niemi, Peter (2017)
    The aims of this study are to determine the prevalence of clinically apparent orolabial herpes and the rate of recrudescence in the Finnish population. As a secondary aim we evaluate the significance of sociodemographic, health-related and other factors previously associated with the disease. The study sample was collected from the Finnish population register office using simple random sampling. A mailed questionnaire was sent to 3200 adults and 1000 children in 1989-1990. Response rate was excellent. In the adult study sample (15-65 years old) the lifetime prevalence of recurrent herpes labialis is 19.4%. Over 60% of cases have 1-3 relapses per year. Family background and health factors are found to be independent predictive factors for recurrent herpes labialis: mother (OR 3.38; 95% CI 2.35 – 4.86), chapped lips (OR 3.28; 95% CI 2.39 - 4.49). A larger proportion of women than men have the disease (OR 2.17; 95% CI 1.70 – 2.77). In order to develop the management of the disease further studies on the role of factors affecting the clinical manifestation, symptomatic and asymptomatic latency reactivation are needed.
  • Terho, Petra (2016)
    BACKGROUND The purpose of the study was to identify risk factors for conversion of laparoscopic cholecystectomy and risk factors for postoperative complications in acute calculous cholecystitis. The most common complications arising from cholecystectomy were also to be identified. METHODS 400 consecutive patients, who had undergone non-elective laparoscopic or open cholecystectomy for acute calculous cholecystitis in Meilahti Hospital in 2013-2014, were included into analysis. The Clavien-Dindo classification of surgical complications was used. RESULTS 373 (93.2%) patients had laparoscopic cholecystectomy initiated of which 84 (22.5%) were converted to open surgery. 27 patients had surgery initiated as open cholecystectomy. Multivariate logistic regression identified CRP over 150 mg/l, age over 65 years, diabetes, gangrene of the gallbladder and an abscess as risk factors for conversion. 76 (19.0%) patients experienced complications. Multivariate logistic regression identified age over 65 years, male gender, impaired renal function and surgery finished as open cholecystectomy as risk factors for complications. CONCLUSIONS Advanced cholecystitis with high CRP, gangrene or an abscess increase the risk of conversion. The risk of postoperative complications is higher after open cholecystectomy. Early identification and treatment of acute calculous cholecystitis might reduce the number of patients with advanced cholecystitis and thus improve outcomes.
  • Martinmäki, Pihla (2021)
    Korkeat verensokerit ovat yleisiä leikkauspotilailla, ja ne lisäävät leikkauksen komplikaatioriskiä. Verensokereiden hoito ei ole kirurgien ja operatiivisten osastojen henkilökunnan ominta osaamisaluetta. Uusia hoitomuotoja ja lääkkeitä diabetekseen tulee jatkuvasti, joten muiden kuin alan asiantuntijoiden on vaikea pysyä kehityksessä mukana. Tässä tutkimuksessa tavoitteenamme oli selvittää, voiko henkilökuntaa kouluttamalla lisätä diabeteshoidon osaamista. Jos osaaminen paranisi, voisivat myös potilaiden verensokerit ja näin ollen leikkaustulokset parantua. Tulosten avulla voidaan saada tietoa, kannattaako tällaiseen opetukseen käyttää rajallisia resursseja. Osana diabeteshoitoa kehittävää AGS-projektia annettiin operatiivisten osastojen henkilökunnalle aiheeseen liittyvää koulutusta. Otos perioperatiiviseen työhön osallistuvia hoitajia ja lääkäreitä täytti koulutusjakson alussa ja lopussa anonyymisti projektia varten suunnitellut kyselylomakkeet. Koulutusjakso sisälsi luentoja ja konsultaatioapua. Kyselylomakkeissa kysyttiin tiedollisia, avoimia kysymyksiä sekä monivalintakysymyksiä oman osaamisen sekä nykyisen koulutuksen tasosta. Kyselyyn vastasi ensimmäisellä kierroksella 51 sairaanhoitajaa, 55 lääkäriä ja 14 muun ammattiryhmän edustajaa, pääosin lähi- tai perushoitajia. Toisella kierroksella kyselyyn vastasi 60 sairaanhoitajaa, 44 lääkäriä ja 12 muuta. Havaitsimme osaamisen kehityksessä positiivisen trendin, mutta tulos ei yltänyt tilastollisesti merkitseväksi. Hoitajien tyytyväisyys koulutuksen määrään ja laatuun sen sijaan parani tilastollisesti merkitsevästi koulutuksen myötä. Yllättävintä oli usean kirurgin ajatus siitä, että verensokereiden hoito kuuluu ainoastaan sisätautilääkäreille. Tämä, sekä erityisesti alkutilanteen huono tietämys verensokereista korostaa koulutuksen tarpeellisuutta sekä kirurgeille että hoitajille. Käymme läpi myös kehityskohteita, joiden avulla tutkimus ja ennen kaikkea tärkeä koulutus voitaisiin toistaa toisissa sairaaloissa vielä paremmalla menestyksellä.
  • Korhonen, Nuppu; Elsilä, Lauri; Hyytiä, Petri; Korpi, Esa (2022)
    While interest in psychedelic drugs in the fields of psychiatry and neuroscience has reemerged in recent last decades, the general understanding of the effects of these drugs remains deficient. In particular, there are gaps in knowledge on executive functions and goal-directed behaviors both in humans and in commonly used animal models. The effects of acute doses of psychedelic lysergic acid diethylamide (LSD) on reward-driven decision making were explored using the mouse version of the Iowa Gambling Task. A total of 15 mice were trained to perform in a touch-screen adaptation of the rodent version of the Iowa Gambling Task, after which single acute doses of LSD (0.025, 0.1, 0.2, 0.4 mg/kg), serotonin 2A receptor-selective agonist 25CN-NBOH (1.5 mg/kg), D-amphetamine (2.0 mg/kg), and saline were administered before the trial. 25CN-NBOH and the three lowest doses of LSD showed no statistically significant changes in option selection or in general functioning during the gambling task trials. The highest dose of LSD (0.4 mg/kg) significantly decreased premature responding and increased the omission rate, but had no effect on option selection in comparison with the saline control. Amphetamine significantly decreased the correct responses and premature responding while increasing the omission rate. In conclusion, mice can perform previously learned, reward-driven decision-making tasks while under the acute influence of LSD at a commonly used dose range.
  • Lankinen, Emiel (2022)
    Akuutti haimatulehdus on tavallinen sairaus kirurgian päivystyksessä akuutti vatsa -potilailla. Haimatulehduksen etiologian määrittämisellä on tärkeä rooli toisaalta mahdollisesti tarvittavien hoitotoimenpiteiden valitsemisessa, mutta ennen kaikkea uusiutumisen estossa. Yleisimmät etiologiset tekijät akuutin pankreatiitin taustalla ovat alkoholin liiallinen käyttö sekä sappikivitauti. Harvinaisempia aiheuttajia ovat haiman tai haimatiehyen mekaaninen ärsytys toimenpiteen seurauksena, hypertriglyseridemia, autoimmuunitulehdus sekä tietyt lääkeaineet. Osassa tapauksista aiheuttajaa ei löydetä ja nämä jäävät ns. idiopaattisiksi. Teimme retrospektiivisen katsauksen Helsingin Yliopistolliseen sairaalaan kuuluvassa Meilahden sairaalassa vuosina 2016-2018 hoidetuista akuuttiin pankreatiittiin sairastuneista potilaista. Tarkoituksenamme oli selvittää akuutin haimatulehduksen tämänhetkinen ilmaantuvuus sekä mahdolliset muutokset haimatulehdusten etiologiajakaumassa. Lisäksi arvioimme tarkasteltavina olleiden suureiden mahdollista osuutta altistavina tekijöinä akuuttiin haimatulehdukseen sairastumiselle. Arvioitavia suureita olivat potilaiden ikä, sukupuoli, tupakointihistoria, alkoholinkäyttö, BMI sekä veren hyytymistä estävän lääkityksen käyttö. Tarkistimme myös potilaiden elossaolotiedot sekä selvitimme ilmenneet haimasyöpätapaukset akuuttiin pankreatiittiin sairastaneilla potilailla. Akuutin pankreatiitin insidenssi oli matalampi kuin aiemmissa suomalaisissa tutkimuksissa. Alkoholipankreatiittien osuus oli vähentynyt, mutta oli edelleen korkeampi kuin muissa Pohjoismaissa. Sappipankreatiittien osuus oli noussut. Idiopaattisiksi jääneissä ja alkoholin aiheuttamissa tapauksissa tupakointi esittäytyi merkittävänä riskitekijänä. Idiopaattisissa tapauksissa myös antikoagulanttien käyttö oli mahdollinen haimatulehduksen riskitekijä. Obesiteetti vaikutti olevan merkittävä riskitekijä sekä idiopaattiselle että sappikivitaudin aiheuttamalle pankreatiitille.
  • Wartiovaara, Linnea (2023)
    Renewal of the intestinal epithelium is driven by the actively dividing and strictly regulated Lgr5-expressing intestinal stem cells (ISCs). As uncontrolled proliferation may lead to colorectal cancer (CRC), ISCs and the regulatory circuit around them could elucidate new targets for colorectal cancer therapy. The regulatory crosstalk between the stem cells and surrounding stroma is under intensive investigation, but little is known about the neuronal control of the intestinal epithelium. Adrenergic signals from sympathetic nervous system regulate hematopoietic and melanocyte stem cells and promote tumorigenesis in e.g., pancreatic, and prostate cancer. Adra2a, one of the nine different adrenergic receptors, is expressed in the ISCs, and adrenergic neurons project neurites to the stem cell niche suggesting a paracrine signaling role. However, whether the adrenergic signaling plays a role in ISC regulation and/or in colorectal cancer remains unknown. The aim of this study was to develop tools to investigate the role of adrenergic signaling in ISC regulation. First, I set up a protocol to delete Adra2a and other genes in intestinal organoids recapitulating the stem cell hierarchy of the intestinal epithelium in vitro, using CRISPR-Cas9 technology. This led to successful deletion of the Ret proto-oncogene while an Adra2a-deficient organoid pool could not be established with these efforts. I differentiated neuroblastoma cells to a catecholaminergic phenotype and cultured them together with intestinal organoids to address the effect of catecholaminergic signaling on the intestinal epithelium in organoid cocultures. The coculture with catecholaminergic cells induced upregulation of the regeneration markers Ly6a and Clu in intestinal organoids, while Reg3b as well as the stem cell markers Lgr5, Olfm4, and Adra2a and the Paneth cell marker Lyz1 were reduced. Third, I assessed the direct effect of a 3-hour norepinephrine (NE) pulse on wild-type organoids with 3’RNA sequencing, however, this did not induce significant changes in the expression levels of the respective regeneration marker genes. Altogether, my work established a CRISPR-Cas9-based method to delete genes of interest in primary intestinal organoids. Further investigation is needed to verify if NE contributes to the regulation of intestinal regeneration and stem cell maintenance.
  • Karppinen, Juuso (2020)
    Unihäiriöt ovat lapsilla yleisiä. Yleisimpiä unihäiriöitä lapsilla ovat nukahtamisen vaikeudet, liian lyhyt yöuni ja liian aikainen herääminen. ADHD-lapsipotilailla unihäiriöitä on kantaväestöä enemmän. ADHD eli aktiivisuuden ja tarkkaavaisuuden häiriö on yksi yleisimmistä lastenpsykiatrisista häiriöistä. Unihäiriö ADHD-potilaalla voi pahentaa oireilua ja toisaalta ADHD voi pahentaa unihäiriötä. Unta voidaan lapsilla tutkia subjektiivisilla keinoilla, kuten kyselyillä tai objektiivisilla mittauksilla, esimerkiksi unipolygrafian avulla. Sekä objektiivisilla että subjektiivisillä menetelmillä mitattuna ADHD-lasten uni eroaa terveistä. Unihäiriöitä voidaan diagnosoida ADHD-lapsipotilailla haastattelulla, unipäiväkirjoilla, unikyselyillä, unipolygrafialla ja aktigrafialla. Unihäiriöiden hoidon ydin on unenhuollolliset menetelmät. Näitä voidaan täydentää tarvittaessa lääkityksellä asiantuntevan lääkärin valvonnassa. Unihäiriö reagoi hyvin hoitoon ADHD-lapsilla ja se lievenee iän myötä useimmilla potilailla. Tämän työn empiirisessä osassa tutkittiin lapsen raportoimien unihäiriöiden määrää ja yhteyttä lapsen oirekuvaan ADHD-lapsipotilailla lastenpsykiatrisessa potilasaineistossa. Tutkimuksessa analysoitiin vanhemman täyttämän vaikeudet ja vahvuudet -kyselyn tuloksia ja lapsen täyttämän 17D -kyselyn tuloksia uni -kysymyksen osalta. Unihäiriöiden määrä ADHD-lapsipotilailla oli samansuuntainen verrattuna aikaisempiin tutkimustuloksiin. Havaitsimme, että lapsen ilmoittama unihäiriö liittyi ADHD-lapsipotilailla erityisen vahvasti tunne-elämän ongelmiin. Siksi on tärkeää kartoittaa unihäiriöitä erityisesti tunne-elämän ongelmista kärsivillä ADHD-lapsipotilailla. Unihäiriöitä tulisi tutkia jatkossa standardoiduilla unikyselyillä sekä lapsen että vanhemman vastaamana. Vanhemmat eivät välttämättä tunnista lapsen unihäiriötä ja myös lapsen täyttämä unikysely parantaa herkkyyttä tunnistaa unihäiriö. Jatkossa lapsen raportoimia unihäiriöitä pitää tutkia tarkemmin ADHD-potilailla, koska aikaisempaa tutkimustietoa aiheesta on vähän.