Browsing by Subject "PATIENT"

Sort by: Order: Results:

Now showing items 1-20 of 54
  • Ojala, K.; Meretoja, T. J.; Leidenius, M. H. K. (2017)
    Background: Recent studies implicate that oncoplastic breast cancer surgery provides better aesthetic outcome than conventional resection. Several factors have been associated with poor aesthetic outcome. This study aims to compare patient-reported aesthetic and functional outcome after conventional and oncoplastic resection and to evaluate prognostic factors for poor aesthetic outcome in a population based setting. Methods: 637 patients having breast conserving treatment (BCT) due to unilateral primary breast cancer at a single hospital district during 2010 were included. Aesthetic and functional outcome were evaluated using two questionnaires three years after surgery. Results: Questionnaires were returned by 379 (59%) patients; 293 (77%) of these had conventional and 86 (23%) oncoplastic resection. Patients in oncoplastic resection group had larger tumour diameter (p <0.001), larger resection specimens (p <0.001), and more often multifocal tumours-(p = 0.032), node positive cancer (p = 0.029) and lower quadrant tumour localization (p = 0.007). Aesthetic outcome according to BCTOS questionnaire was good in 284 (75%) patients; 52 (61%) patients in the oncoplastic group and 230 patients (81%) in the conventional resection group, p <0.001. Larger tumour diameter (p = 0.033), multifocality (p = 0.022), weight of resection specimen ( Conclusions: Patient satisfaction to aesthetic outcome after BCT is high. Conventional resection provides good aesthetic outcome in appropriately selected patients. Oncoplastic resection enables BCT in patients with larger and multifocal tumours with favourable aesthetic outcome. (C) 2016 Elsevier Ltd, BASO similar to The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.
  • Jones, Marjaana; Pietilä, Ilkka Veikko (2020)
    Health policies and strategies promote the involvement of people with illness experiences in service development and production, integrating them into settings that have traditionally been domains of health professionals. In this study, we focus on the perspectives of people with personal illness experiences and explore how they justify involvement, position themselves as legitimate actors and forge collaborative relationships with health professionals. We have used discourse analysis in analysing individual interviews conducted with peer support workers and experts by experience (n = 17) who currently work in Finnish health services. The interviewees utilised discourses of empowerment, efficiency and patient-centeredness, aligning themselves with the justifications constructed by patient movements additionally to those found in current health policies. Both groups wanted to retain critical distance from professionals in order to voice criticisms of current care practices, yet they also frequently aligned themselves with professionals in order to gain legitimacy for their involvement. They adopted professional traits that moved them further from being lay participants sharing personal experiences and adopted an expert position. Although national-level policies provided backing and legitimacy for involvement, the lack of local-level guidance could hinder the practical implementation and make involvement largely dependent of professionals' discretion.
  • Miettinen, Jenni; Tainio, Juuso; Jahnukainen, Timo; Pakarinen, Mikko; Lauronen, Jouni; Jalanko, Hannu (2017)
    Anemia and low-grade inflammation are reported to be associated with impaired long-term graft outcome in renal transplant (RTx) recipients. In this study, hemoglobin (Hb) and inflammation marker levels were correlated with measured glomerular filtration rate (GFR) in 128 pediatric RTx recipients over a median follow-up period of 10 years. Serum levels of erythropoietin (EPO), hepcidin-25, high-sensitivity C-reactive protein (CRP) (hsCRP) and interleukin-6 (IL-6) were analyzed by enzyme-linked immunosorbent assays, and GFR was analyzed by Cr-51-EDTA clearance. The median levels of Hb (115 g/L), hsCRP (0.4 mg/L) and IL-6 (1.4 pg/mL) and the median erythrocyte sedimentation rate (ESR; 19 mm/h) remained stable after the first post-operative year. However, approximately half of the patients had a normocytic, normochromic anemia, and one-third had elevated levels of hsCRP (> 1 mg/L) and ESR (> 25 mm/h), indicating continuous low-grade inflammation. Low Hb levels preceded increased fibrosis in protocol biopsies taken at 1.5 and 3 years after transplantation and preceded decreased GFR by several years. Hb levels showed an inverse correlation with EPO levels (r = -0.206, p = 0.038) and ESR (r = -0.369, p <0.001), but not with hepcidin-25, hsCRP or IL-6 levels. The levels of the major inflammatory markers IL-6 and hsCRP did not show a significant correlation with GFR at either the early maintenance phase or later. In the multivariable analysis, low Hb levels performed better than any other marker with respect to predicting concomitant and subsequent GFR. Anemia, but not elevated inflammatory indices, was associated with poor concomitant and subsequent graft function during a 10-year follow-up in pediatric RTx patients.
  • Jokelainen, Jarno; Mustonen, Harri; Kylänpää, Leena; Udd, Marianne; Lindström, Outi; Pöyhiä, Reino (2018)
    Background and aims: There is no consensus on how to assess the depth of sedation for endoscopic retrograde cholangiopancreatography (ERCP). This study was carried out in order to evaluate different methods of assessment of depth of sedation: bispectral index (BiS), modified Richmond Agitation/Sedation Scale (mRASS), modified Ramsay Sedation Scale (mRSS) and modified Observer Assessment of Alertness and Sedation (mOAAS) and their applicability to clinical practice.Methods: Two hundred patients were recruited. Sedation was given by standard clinical practice using propofol sedation or patient controlled sedation. Sedation was assessed on all patients using the above-mentioned methods. BiS was considered the reference point for sedation scales. Cronbach's alpha was calculated to determine the consistency of different scales in respect to each other and prediction probability and Spearman's correlation coefficients of sedation scales were calculated to show the relationship between sedation scales and BiS.Results: All scales showed high reliability with overall Cronbach's alpha 0.943. Dropping scales suggested better consistency between mOAAS, mRSS and mRASS than with BiS. Spearman's correlation and prediction probability showed similar results with all tested scales: mOAAS (0.695, 0.739), mRSS (0.673, 0.735), mRASS (0.683, 0.738), p
  • Kaartinen, I.; Sunela, K.; Alanko, J.; Hukkinen, K.; Karjalainen-Lindsberg, M. -L.; Svarvar, C. (2017)
    Breast lymphomas comprise a rare group of malignant breast tumors. Among these, a new entity has emerged as a potentially under diagnosed disease. Breast implant-associated anaplastic large cell lymphoma (BI-ALCL) most often manifests as a late periprosthetic effusion between 1 and 10 years after the implantation of silicone or saline-filled breast prostheses. BI-ALCL is an anaplastic lymphoma kinase-negative T-cell lymphoma that has a distinctively different clinical course than other breast lymphomas or ALCLs. Diagnosis is based on aspiration of the effusion around the implant and CD30 positivity of the sample. Every periprosthetic effusion after breast augmentation or reconstruction using implants should be considered as potential BI-ALCL until proven otherwise. The majority of cases at diagnosis are in the in situ stage, i.e., confined to the lumen around the prosthesis. Most patients have an excellent prognosis when complete removal of the capsule and prosthesis with negative margins is achieved surgically. Some patients, however, develop infiltrative disease with a potentially life-threatening clinical course. Treatment planning regarding the extent of surgery and role of adjuvant therapy, especially in advanced cases, requires further investigation. (c) 2017 Elsevier Ltd, BASO-The Association for Cancer Surgery, and the European Society of Surgical Oncology. All rights reserved.
  • Koivuniemi, Raili; Hakkarainen, Tiina; Kiiskinen, Jasmi; Kosonen, Mika; Vuola, Jyrki; Valtonen, Jussi; Luukko, Kari; Kavola, Heli; Yliperttula, Marjo (2020)
    Objective: Skin graft donor site management is a concern particularly for elderly patients and patients with poor wound healing competence, and also because donor sites are a source of pain and discomfort. Although different types of dressings exist, there is no consensus regarding optimal dressing type on donor site care to promote healing, reduce pain, and improve patients' comfort. Approach: This prospective, single-center clinical trial evaluated the performance of nanofibrillar cellulose (NFC) wound dressing (FibDex (R) by UPM-Kymmene Corporation) for treatment of donor sites compared with a polylactide-based copolymer dressing. The study enrolled 24 patients requiring skin grafting with mean age of 49 +/- 18. The primary outcome measure was wound healing time. Secondary outcomes, the epithelialization, subjective pain, the scar appearance assessed using the Patient and Observer Scar Assessment Scale (POSAS), and skin elasticity and transepidermal water loss (TEWL), were evaluated at 1 and 6 months postoperatively. Results: No statistically significant differences were observed between NFC and copolymer dressings regarding wound healing time, epithelialization, experience of pain, or TEWL. Significant differences were observed in the POSAS results for thickness and vascularity in the Observer score, in the favor of NFC over copolymer dressing. Moreover, skin elasticity was significantly improved with NFC dressing in terms of viscoelasticity and elastic modulus at 1 month postoperatively. Innovation: NFC dressing is a new, green sustainable product for wound treatment without animal or human-origin components. Conclusion: NFC dressing provides efficient wound healing at skin graft donor sites and is comparable or even preferable compared with the copolymer dressing.
  • Syyrilä, Tiina; Vehviläinen-Julkunen, Katri; Härkänen, Marja (2020)
    Abstract Aim To identify the types and frequencies of communication issues (communication pairs, person related, institutional, structural, process, and prescription-related issues) detected in medication incident reports and to compare communication issues that caused moderate or serious harm to patients. Background Communication issues have been found to be amongst the main contributing factors of medication incidents, thus necessitating communication enhancement. Design A sequential exploratory mixed-method design. Methods Medication incident reports from Finland (n=500) for the year 2015 in which communication was marked as a contributing factor were used as the data source. Indicator phrases were used for searching communication issues from free texts of incident reports. The detected issues were analysed statistically, qualitatively, and considering the harm caused to the patient. Citations from free texts were extracted as evidence of issues and were classified following main categories of indicator phrases. The EQUATOR?s SRQR checklist was followed in reporting. Results Twenty-eight communication pairs were identified, with nurse-nurse (68.2%; n=341), nurse-physician (41.6%; n=208), and nurse-patient (9.6%; n=48) pairs being the most frequent. Communication issues existed mostly within unit (76.6%, n=383). The most commonly identified issues were digital communication (68.2%; n=341), lack of communication within a team (39.6%; n=198), false assumptions about work processes (25.6%; n=128) and being unaware of guidelines (25.0%; n=125). Collegial feedback, and communication from patients and relatives were the preventing issues. Moderate harm cases were often linked with lack of communication within the unit, digital communication and not following guidelines. Conclusions The interventions should be prioritized to (a) enhancing communication about work-processes, (b) verbal communication about digital prescriptions between professionals, (c) feedback among professionals, and (f) encouraging patients to communicate about medication. Relevance to clinical practice Upon identifying the most harmful and frequent communication issues, interventions to strengthen medication safety can be implemented.
  • Kuusimäki, Tomi; Korpela, Jaana; Pekkonen, Eero; Martikainen, Mika H.; Antonini, Angelo; Kaasinen, Valtteri (2020)
    Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD) patients with motor fluctuations and dyskinesias. The key DBS efficacy studies were performed in PD patients with unknown genotypes; however, given the estimated monogenic mutation prevalence of approximately 5-10%, most commonly LRRK2, PRKN, PINK1 and SNCA, and risk-increasing genetic factors such as GBA, proper characterization is becoming increasingly relevant. We performed a systematic review of 46 studies that reported DBS effects in 221 genetic PD patients. The results suggest that monogenic PD patients have variable DBS benefit depending on the mutated gene. Outcome appears excellent in patients with the most common LRRK2 mutation, p.G2019S, and good in patients with PRKN mutations but poor in patients with the more rare LRRK2 p.R1441G mutation. The overall benefit of DBS in SNCA, GBA and LRRK2 p.T2031S mutations may be compromised due to rapid progression of cognitive and neuropsychiatric symptoms. In the presence of other mutations, the motor changes in DBS-treated monogenic PD patients appear comparable to those of the general PD population.
  • Argente, Jesus; Flores, Raquel; Gutierrez-Arumi, Armand; Verma, Bhupendra; Martos-Moreno, Gabriel A.; Cusco, Ivon; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J.; Perez-Jurado, Luis A. ' (2014)
    The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We found anomalies in U11/U12 di-snRNP formation and in splicing of multiple U12-type introns in patient cells. Defective transcripts include preprohormone convertases SPCS2 and SPCS3 and actin-related ARPC5L genes, which are candidates for the somatotroph-restricted dysfunction. The reported novel mechanism for familial growth hormone deficiency demonstrates that general mRNA processing defects of the minor spliceosome can lead to very narrow tissue-specific consequences.
  • Hillbom, Matti; Saloheimo, Pertti; Fujioka, Shinsuke; Wszolek, Zbigniew K.; Juvela, Seppo; Leone, Maurizio A. (2014)
  • EuroEPINOMICS- RES Consortium; EpiCNV Consortium; Coppola, Antonietta; Cellini, Elena; Saarentaus, Elmo; Palotie, Aarno; Lehesjioki, Anna-Elina; von Spiczak, Sarah (2019)
    Objective Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. Methods We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy. Results Of 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51-6.68; P = 2.34 x 10(-9)). Meta-analysis including data from published control groups showed that the presence or absence of epilepsy did not affect the detected frequency of CNVs. Significance The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes.
  • Jokelainen, Jarno; Belozerskikh, Anna; Mustonen, Harri; Udd, Marianne; Kylänpää, Leena; Lindström, Outi; Mazanikov, Maxim; Pöyhiä, R. (2020)
    Background Endoscopic retrograde cholangiopancreatography (ERCP) requires moderate to deep sedation, usually with propofol. Adverse effects of propofol sedation are relatively common, such as respiratory and cardiovascular depression. This study was conducted to determine if doxapram, a respiratory stimulant, could be used to reduce the incidence of respiratory depression. Methods This is a single-center, prospective randomized double-blind study performed in the endoscopy unit of Helsinki University Central Hospital. 56 patients were randomized in a 1:1 ratio to either receive doxapram as an initial 1 mg/kg bolus and an infusion of 1 mg/kg/h (group DOX) or placebo (group P) during propofol sedation for ERCP. Main outcome measures were apneic episodes and hypoxemia (SpO(2) <90%). Mann-Whitney test for continuous variables and Fisher's exact test for discrete variables were used and mixed effects modeling to take into account repeated measurements on the same subject and comparing both changes within a group as a function of time and between the groups. Results There were no statistically significant differences in apneic episodes (p = 0.18) or hypoxemia (p = 0.53) between the groups. There was a statistically significant rise in etCO(2) levels in both groups, but the rise was smaller in group P. There was a statistically significant rise in Bispectral Index (p = 0.002) but not modified Observer's Assessment of Agitation/Sedation (p = 0.21) in group P. There were no statistically significant differences in any other measured parameters. Conclusions Doxapram was not effective in reducing respiratory depression caused by deep propofol sedation during ERCP. Further studies are warranted using different sedation protocols and dosing regimens.
  • Vuorio, Alpo; Budowle, Bruce; Sajantila, Antti; Laukkala, Tanja; Junttila, Ilkka; Kravik, Stein E.; Griffiths, Robin (2018)
    After the Germanwings accident, the French Safety Investigation Authority (BEA) recommended that the World Health Organization (WHO) and European Community (EC) develop clear rules for the duty of notification process. Aeromedical practitioners (AMEs) face a dilemma when considering the duty of notification and conflicts between pilot privacy and public and third-party safety. When balancing accountability, knowledge of the duty of notification process, legislation and the clarification of a doctor's own set of values should be assessed a priori. Relatively little is known of the magnitude of this problem in aviation safety. To address this, the National Transportation Safety Board (NTSB) database was searched to identify fatal accidents during 2015 in the United States in which a deceased pilot used a prescribed medication or had a disease that potentially reduced pilot performance and was not reported to the AME. Altogether, 202 finalized accident reports with toxicology were available from (the year) 2015. In 5% (10/202) of these reports, the pilot had either a medication or a disease not reported to an AME which according to the accident investigation was causal to the fatal accident. In addition, the various approaches to duty of notification in aviation in New Zealand, Finland and Norway are discussed. The process of notification of authorities without a pilot's express permission needs to be carried out by using a guidance protocol that works within legislation and professional responsibilities to address the pilot and the public, as well as the healthcare provider. Professional guidance defining this duty of notification is urgently needed.
  • Voutilainen, Liisa; Henttonen, Pentti; Kahri, Mikko; Ravaja, Niklas; Sams, Mikko; Perakyla, Anssi (2018)
    Two central dimensions in psychotherapeutic work are a therapist's empathy with clients and challenging their judgments. We investigated how they influence psychophysiological responses in the participants. Data were from psychodynamic therapy sessions, 24 sessions from 5 dyads, from which 694 therapist's interventions were coded. Heart rate and electrodermal activity (EDA) of the participants were used to index emotional arousal. Facial muscle activity (electromyography) was used to index positive and negative emotional facial expressions. Electrophysiological data were analyzed in two time frames: (a) during the therapists' interventions and (b) across the whole psychotherapy session. Both empathy and challenge had an effect on psychophysiological responses in the participants. Therapists' empathy decreased clients' and increased their own EDA across the session. Therapists' challenge increased their own EDA in response to the interventions, but not across the sessions. Clients, on the other hand, did not respond to challenges during interventions, but challenges tended to increase EDA across a session. Furthermore, there was an interaction effect between empathy and challenge. Heart rate decreased and positive facial expressions increased in sessions where empathy and challenge were coupled, i.e., the amount of both empathy and challenge was either high or low. This suggests that these two variables work together. The results highlight the therapeutic functions and interrelation of empathy and challenge, and in line with the dyadic system theory by Beebe and Lachmann (2002), the systemic linkage between interactional expression and individual regulation of emotion.
  • Frismantas, Viktoras; Dobay, Maria Pamela; Rinaldi, Anna; Tchinda, Joelle; Dunn, Samuel H.; Kunz, Joachim; Richter-Pechanska, Paulina; Marovca, Blerim; Pail, Orrin; Jenni, Silvia; Diaz-Flores, Ernesto; Chang, Bill H.; Brown, Timothy J.; Collins, Robert H.; Uhrig, Sebastian; Balasubramanian, Gnana P.; Bandapalli, Obul R.; Higi, Salome; Eugster, Sabrina; Voegeli, Pamela; Delorenzi, Mauro; Cario, Gunnar; Loh, Mignon L.; Schrappe, Martin; Stanulla, Martin; Kulozik, Andreas E.; Muckenthaler, Martina U.; Saha, Vaskar; Irving, Julie A.; Meisel, Roland; Radimerski, Thomas; Von Stackelberg, Arend; Eckert, Cornelia; Tyner, Jeffrey W.; Horvath, Peter; Bornhauser, Beat C.; Bourquin, Jean-Pierre (2017)
    Drug sensitivity and resistance testing on diagnostic leukemia samples should provide important functional information to guide actionable target and biomarker discovery. We provide proof of concept data by profiling 60 drugs on 68 acute lymphoblastic leukemia (ALL) samples mostly from resistant disease in cocultures of bone marrow stromal cells. Patient-derived xenografts retained the original pattern of mutations found in the matched patient material. Stromal coculture did not prevent leukemia cell cycle activity, but a specific sensitivity profile to cell cycle-related drugs identified samples with higher cell proliferation both in vitro and in vivo as leukemia xenografts. In patients with refractory relapses, individual patterns of marked drug resistance and exceptional responses to new agents of immediate clinical relevance were detected. The BCL2inhibitor venetoclax was highly active below 10 nM in B-cell precursor ALL (BCP-ALL) subsets, including MLL-AF4 and TCF3-HLF ALL, and in some T-cell ALLs (T-ALLs), predicting in vivo activity as a single agent and in combination with dexamethasone and vincristine. Unexpected sensitivity to dasatinib with half maximal inhibitory concentration values below 20 nM was detected in 2 independent T-ALL cohorts, which correlated with similar cytotoxic activity of the SRC inhibitor KX2-391 and inhibition of SRC phosphorylation. A patient with refractory T-ALL was treated with dasatinib on the basis of drug profiling information and achieved a 5-month remission. Thus, drug profiling captures disease-relevant features and unexpected sensitivity to relevant drugs, which warrants further exploration of this functional assay in the context of clinical trials to develop drug repurposing strategies for patients with urgent medical needs.
  • Chen, An; Tenhunen, Henni; Torkki, Paulus; Peltokorpi, Antti; Heinonen, Seppo; Lillrank, Paul; Stefanovic, Vedran (2018)
    Background: Population-based prenatal screening has become a common and widely available obstetrical practice in majority of developed countries. Under the patient autonomy principle, women should understand the screening options, be able to take their personal preferences and situations into account, and be encouraged to make autonomous and intentional decisions. The majority of the current research focuses on the prenatal screening uptake rate, women's choice on screening tests, and the influential factors. However, little attention has been paid to women's choice-making processes and experiences in prenatal screening and their influences on choice satisfaction. Understanding women's choice-making processes and experiences in pregnancy and childbirth is the prerequisite for designing women-centered choice aids and delivering women-centered maternity care. This paper presents a pilot study that aims to investigate women's experiences when they make choices for screening tests, quantify the choice making experience, and identify the experiential factors that affect women's satisfaction on choices they made. Method: We conducted a mixed-method research at Helsinki and Uusimaa Hospital District (HUS) in Finland. First, the women's choice-making experiences were explored by semi-structured interviews. We interviewed 28 women who participated in prenatal screening. The interview data was processed by thematic analysis. Then, a cross-sectional self-completion survey was designed and implemented, assessing women's experiences in choice-making and identifying the experiential factors that influence choice satisfaction. Of 940 distributed questionnaires, 185 responses were received. Multivariable linear regression analysis was used to detect the effects of the variables. Results: We developed a set of measurements for women's choice-making experiences in prenatal screening with seven variables: activeness, informedness, confidence, social pressure, difficulty, positive emotion and negative emotion. Regression revealed that activeness in choice-making (beta = 0.176; p = 0.023), confidence in choice-making (beta = 0.388; p <0.001), perceived social pressure (beta = -0.306; p <0.001) and perceived difficulty (beta = -0.274; p <0.001) significantly influenced women's choice satisfaction in prenatal screening. Conclusions: This study explores the experiential dimension of women's choice-making in prenatal screening. Our result will be useful for service providers to design women-centered choice environment. Women's willingness and capabilities of making active choices, their preferences, and social reliance should be well considered in order to facilitate autonomous, confident and satisfying choices.
  • Seppälä, Severi; Rajala, Kaisa; Lehto, Juho Tuomas; Sutinen, Eva; Mäkitalo, Laura; Kautiainen, Hannu; Kankaanranta, Hannu; Ainola, Mari; Saarto, Tiina; Myllärniemi, Marjukka (2020)
    Background: Idiopathic pulmonary fibrosis (IPF) is a severe and progressive lung disease with a poor prognosis. Patients with IPF suffer from a high symptom burden, which impairs their health-related quality of life (HRQoL). Lack of research on IPF symptoms and their clustering, however, makes symptom-centred care challenging. Methods: We sent two questionnaires, RAND 36-Item Health Survey and Edmonton Symptom Assessment System, to 300 patients from the FinnishIPF registry. Of the 300 patients, 245 (82%) responded. We performed an exploratory factor analysis on the results to search for potential clustering of symptoms into factors. Results: We found three distinct symptom factors: the emotional factor (including depression, anxiety, insomnia, loss of appetite and nausea), the pain factor (pain at rest or in movement) and the respiratory symptoms factor (shortness of breath, cough, tiredness and loss of wellbeing). Correlation was strong within the factors (rho(tau) 0.78-0.85) and also evident between them. The factors correlated with the different dimensions of HRQoL: the emotional factor with mental health (correlation coefficient=-0.69) and vitality (-0.63), the pain factor with bodily pain (-0.72) and the respiratory symptoms factor with vitality (-0.69), general health (-0.64) and physical functioning (-0.62). Conclusion: We found three distinct symptom factors in IPF, of which respiratory and emotional factors showed the strongest association with decreasing HRQoL. Routine assessment of IPF patients' respiratory symptoms, mental health and pain are important as these may be linked with other symptoms and significantly impair the patient's HRQoL.
  • Kelaranta, A.; Mäkelä, T.; Kaasalainen, T.; Kortesniemi, M. (2017)
    Purpose: To determine fetal doses in different stages of pregnancy in three common computed tomography (CT) examinations: pulmonary CT angiography, abdomino-pelvic and trauma scan with Monte Carlo (MC) simulations. Methods: An adult female anthropomorphic phantom was scanned with a 64-slice CT using pulmonary angiography, abdomino-pelvic and trauma CT scan protocols. Three different sized gelatin boluses placed on the phantom's abdomen simulated different stages of pregnancy. Intrauterine dose was used as a surrogate to a dose absorbed to the fetus. MC simulations were performed to estimate uterine doses. The simulation dose levels were calibrated with volumetric CT dose index (CTDIvol) measurements and MC simulations in a cylindrical CTDI body phantom and compared with ten point doses measured with metal-oxide-semiconductor field-effect-transistor dosimeters. Intrauterine volumes and uterine walls were segmented and the respective dose volume histograms were calculated. Results: The mean intrauterine doses in different stages of pregnancy varied from 0.04 to 1.04 mGy, from 4.8 to 5.8 mGy, and from 9.8 to 12.6 mGy in the CT scans for pulmonary angiography, abdomino-pelvic and trauma CT scans, respectively. MC simulations showed good correlation with the MOSFET measurement at the measured locations. Conclusions: The three studied examinations provided highly varying fetal doses increasing from sub-mGy level in pulmonary CT angiography to notably higher levels in abdomino-pelvic and trauma scans where the fetus is in the primary exposure range. Volumetric dose distribution offered by MC simulations in an appropriate anthropomorphic phantom provides a comprehensive dose assessment when applied in adjunct to point-dose measurements.
  • Broberg, Martin; Hästbacka, Johanna; Helle, Emmi (2021)
    Congenital heart defects (CHD) are developmental malformations affecting the heart and the great vessels. Early heart development requires temporally regulated crosstalk between multiple cell types, signaling pathways, and mechanical forces of early blood flow. While both genetic and environmental factors have been recognized to be involved, identifying causal genes in non-syndromic CHD has been difficult. While variants following Mendelian inheritance have been identified by linkage analysis in a few families with multiple affected members, the inheritance pattern in most familial cases is complex, with reduced penetrance and variable expressivity. Furthermore, most non-syndromic CHD are sporadic. Improved sequencing technologies and large biobank collections have enabled genome-wide association studies (GWAS) in non-syndromic CHD. The ability to generate human to create human induced pluripotent stem cells (hiPSC) and further differentiate them to organotypic cells enables further exploration of genotype–phenotype correlations in patient-derived cells. Here we review how these technologies can be used in unraveling the genetics and molecular mechanisms of heart development.
  • Rannikko, Juha; Holmberg, Ville; Karppelin, Matti; Arvola, Pertti; Huttunen, Reetta; Mattila, Eero; Kerttula, Niina; Puhto, Teija; Tamm, Ulle; Koivula, Irma; Vuento, Risto; Syrjänen, Jaana; Hohenthal, Ulla (2021)
    Because of widespread use of probiotics, their safety must be guaranteed. We assessed use of Saccharomyces boulardii probiotic yeast from medical records for patients who had Saccharomyces fungemia or other clinical Saccharomyces culture findings. We evaluated all Saccharomyces sp. findings at 5 university hospitals in Finland during 2009-2018. We found 46 patients who had Saccharomyces fungemia; at least 20 (43%) were using S. boulardii probiotic. Compared with a control group that had bacteremia or candidemia, the odds ratio for use of an S. boulardii probiotic was 14 (95% CI 4-44). Of 1,153 nonblood culture findings, the history for 125 patients was checked; at least 24 (19%) were using the probiotic (odds ratio 10, 95% CI 3-32). This study adds to published fungemia cases linked to use of S. boulardii probiotic and sheds light on the scale of nonblood Saccharomyces culture findings that are also linked to use of this probiotic.