Penttila S.,University of Tampere |
Jokela M.,University of Turku |
Huovinen S.,University of Tampere |
Saukkonen A.M.,Central Hospital of Northern Karelia |
And 5 more authors.
Neuromuscular Disorders | Year: 2014
We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2-q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8. Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. © 2013 Elsevier B.V.
Infliximab for 6 months added on combination therapy in early rheumatoid arthritis: 2-Year results from an investigator-initiated, randomised, double-blind, placebo-controlled study (the NEO-RACo Study)
Leirisalo-Repo M.,University of Helsinki |
Kautiainen H.,Orton Hospital |
Kautiainen H.,Jyvaskyla Central Hospital |
Laasonen L.,University of Helsinki |
And 17 more authors.
Annals of the Rheumatic Diseases | Year: 2013
Objective: Early treatment of patients with rheumatoid arthritis (RA) with combination treatment starting with methotrexate, sulfasalazine, hydroxychloroquine and prednisolone (FIN-RACo strategy) is superior to monotherapy. A study was undertaken to determine whether infliximab (INFL) added to intensified FIN-RACo treatment for the initial 6 months improves the 2-year outcome. Methods: 99 patients with early untreated active RA were enrolled in an investigator-initiated, randomised, double-blind, multicentre, parallel-group trial. Primary outcomes were remission and radiological changes at 2 years. All patients started with FIN-RACo. In addition, they were randomised to receive INFL or placebo (Pla) from weeks 4 to 26. Results: At 24 months, 66% and 53%, respectively, of the patients in the FIN-RACo+INFL and FIN-RACo+Pla groups were in remission according to the modified American College of Rheumatology (ACR) criteria ( p=0.19), 26% and 10% were in sustained modified ACR remission (p=0.042) and 82% in both groups were in remission by 28-joint disease activity score (not significant). Mean changes in the total Sharp-van der Heijde score were 0.2 and 1.4, respectively (p=0.0058). Conclusions: Most patients with early active RA achieve clinical remission and develop negligible joint damage with the intensifi ed FIN-RACo regimen. Adding INFL for the first 6 months delays radiological progression.
PubMed | University of Miami, Jichi Medical University, Lillebaelt Hospital, University of Basel and 11 more.
Type: | Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration | Year: 2016
A large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations immediately downstream of the HREM region have previously been observed and have been suggested to be one reason for difficulties in interpreting RP-PCR data. Our objective was to determine the properties of these sequence variations with regard to prevalence, the range of variation, and effect on disease prognosis. We screened a multi-national cohort (n=6981) for the HREM and samples with deviant RP-PCR curves were identified. The deviant samples were subsequently sequenced to determine sequence alteration. Our results show that in the USA and European cohorts (n=6508) 10.7% carried the HREM and 3% had a sequence variant, while no HREM or sequence variants were observed in the Japanese cohort (n=473). Sequence variations were more common on HREM alleles; however, certain population specific variants were associated with a non-expanded allele.In conclusion, we identified 38 different sequence variants, most located within the first 50bp downstream of the HREM region. Furthermore, the presence of an HREM was found to be coupled to a lower age of onset and a shorter disease survival, while sequence variation did not have any correlation with these parameters.
Sairanen T.,University of Helsinki |
Soinila S.,University of Helsinki |
Nikkanen M.,Kuusankoski Regional Hospital |
Rantanen K.,University of Helsinki |
And 9 more authors.
Neurology | Year: 2011
Background: Official guidelines on stroke promote the use of telemedicine via bidirectional videoconferencing equipment, which provides a valid and reliable means of facilitating thrombolysis delivery to patients in distant or rural hospitals. Methods: The present prospective cohort study describes the characteristics and 3-month outcome of the thrombolysis patients treated in 5 community hospitals served by the Helsinki University Central Hospital (HUCH) in a telestroke network during 2007 to 2009. The characteristics and outcome of telestroke thrombolysis patients are compared with consecutive thrombolysis patients (n = 985) treated at HUCH. Results: A total of 106 consecutive telestroke consultations in 2 years led to IV thrombolysis in 61 patients (57.5%). The median NIH Stroke Scale score was 10 (range 3-26), onset to treatment time 120 minutes (interquartile range [IQR] 49), length of consultation 25 minutes (IQR 18) if the consultation led to thrombolysis and 15 minutes (IQR 10) if not (p = 0.032). The rate of symptomatic intracranial bleedings was 6.7% (4/60) according to the National Institute of Neurological Disorders and Stroke definition. Half (28/57) of the thrombolysis patients with complete follow-up data had a favorable outcome (modified Rankin Scale [mRS] 0-2) and a third (17/57) had an excellent recovery (mRS 0-1). Thus the patients treated with thrombolysis based on teleconsultation had similar outcome with those treated at HUCH (mRS 0-2: 49.1% vs 58.1%, p = 0.214 and mRS 0-1: 17/57 [29.4%] vs 352/957 [36.8%], p = 0.289). Conclusions: A special feature of the Finnish pilot is the high percentage of consultations leading to thrombolytic treatment with features and results very similar to on-site thrombolysis at the neurologic emergency room of HUCH. © 2011 by AAN Enterprises, Inc. All rights reseved.
Notko T.S.T.,Central Hospital of Lapland |
Silen M.,University of Lapland
Rehabilitation Counseling Bulletin | Year: 2015
The empowerment process of rehabilitation clients is mediated through empowering and disempowering experiences in the social interactions of various areas of life. We examine the perceptions of Finnish rehabilitation counselors (RC) of the position of their clients interacting with (a) the rehabilitation counselors themselves, (b) other professionals in social and health care services, and (c) their family members. The data were collected using the Webropol 1.0 survey tool from 148 RCs employed in Finnish Central Health Districts. Most of the respondents perceived their clients to be well supported in all three relationships. However, unequal power relations were reported to exist in interaction with social and health care service professionals and disempowering acts were found in family environments. More information on disempowering acts and mistreatment is needed. Reducing disempowering acts is possible only if they are noticed and admitted by professionals in social and health care services. © Hammill Institute on Disabilities 2014.
Uutela T.,Central Hospital of Lapland |
Hannonen P.,Central Hospital of Lapland |
Kautiainen H.,Central Hospital of Jyvaskyla |
Hakala M.,Central Hospital of Paijat Hame |
And 3 more authors.
Clinical and Experimental Rheumatology | Year: 2011
Objective: To assess long-term impact of RA on the HR-QoL in a cohort of working-age patients with early disease treated by a multidisciplinary team including early and active use of disease-modifying anti-rheumatic drugs (DMARDs). Methods: Fifty-five consecutive patients with RA who were naïve to DMARDs and glucocorticoids were assessed at baseline and at 6 months, 1, 2, 5 and 10 years. HR-QoL, disease activity, function, and joint destruction of hands and feet were assessed by using the Nottingham Health Profile (NHP) instrument, the 28-joint based Disease Activity Score (DAS28), the Health Assessment Questionnaire (HAQ), and the Larsen scores, respectively. GEE (generalised estimation equations)-method was used to evaluate longitudinal relationships between the HR-QoL changes and other variables. Results: All NHP dimensions except social isolation improved significantly during the first six months and remained favourable up to 10 years. The most prominent improvements were seen in the dimensions for pain and emotional reaction (p<0.001). In longitudinal evaluation statistically significant associations (p<0.001) were found between the DAS28 and the NHP dimensions for pain, energy and emotional reaction, and between the HAQ and the NHP dimensions for pain, energy and mobility. The extent of joint damage had no statistically significant associations to the six dimensions of the NHP instrument. Conclusion: Early improvements in HR-QoL carried over the ten-year follow-up in patients with recent-onset RA treated with a multidisciplinary strategy including early and active DMARD therapy. HR-QoL changes were longitudinally associated especially with disease activity and function. © Clinical and Experimental Rheumatology 2011.
PubMed | Central Hospital of Lapland, University of Helsinki, Central Hospital of Jyvaskyla, Medcare Foundation and Paijat Hame Central Hospital
Type: Journal Article | Journal: Scandinavian journal of rheumatology | Year: 2016
Self-rated health (SRH) is a well-known overall health status measure used in the general population but it is rarely examined in a clinical setting. We assessed SRH-related factors in clinic-based patients with rheumatoid arthritis (RA).The study included 123 consecutive outpatients treated in 1998-1999. Patient questionnaires, including a single SRH item, sociodemographics, the Health Assessment Questionnaire (HAQ) for functional ability, and the Nottingham Health Profile (NHP) for health-related quality of life (QoL), were collected at baseline. Comorbidities were measured by the Charlson Comorbidity Index (CCI) and data on the use of drugs and surgery for RA were verified from medical records and by querying patients. Factors associated with SRH were examined using regression models with the propensity score as the covariate. Mortality rates were collected up to 31 December 2014. Hazard ratios (HRs) were used to estimate SRH-associated mortality.In univariate analysis, poor SRH was associated with higher age and poorer patient-reported outcomes (PROs) but not with gender and clinical variables. After adjustment for the propensity score, the NHP dimensions for pain, energy, emotional reactions, and mobility remained significantly associated with SRH. The age- and sex-adjusted HR for death was 2.38 [95% confidence interval (CI) 1.13-5.04, p=0.034] for the patients with poor vs. good SRH. The propensity score-adjusted HR for death was 1.69 (95% CI 0.74-3.86, p=0.21). Conclusions In patients with RA, SRH was associated with health-related QoL dimensions, reflecting patients well-being rather than clinical factors. During the 16years of follow-up, SRH had no independent association with mortality.
Kurl S.,University of Eastern Finland |
Kurl S.,Central Hospital of Lapland |
Makikallio T.H.,University of Oulu |
Laukkanen J.A.,University of Eastern Finland |
Laukkanen J.A.,Central Hospital of Lapland
Annals of Medicine | Year: 2015
Objective. To investigate the predictive value of T-wave inversion (TWI) on routine electrocardiogram (ECG) for mortality in the general population with various risk groups in a prospective population-based follow-up study. Subjects. ECGs of a random population-based sample of 1814 men aged 42-60 years without coronary heart disease (CHD) at baseline. Results. During an average follow-up of 21 years, 685 deaths occurred. Of these deaths 174 were due to CHD and 278 to cardiovascular disease (CVD). There were 57 subjects with TWI. After adjusting for age, TWI was associated with an increased CHD mortality (relative risk (RR) 4.10, 95% CI 2.26-7.41), CVD mortality (RR 3.47, 95% CI 2.09-5.78), and all-cause mortality (RR 2.07, 95% CI 1.37-3.12). After further adjustment for conventional risk factors, TWI remained statistically significant, predicting CHD mortality (RR 2.62, 95% CI 1.57-4.36), CVD mortality (RR 2.18, 95% CI 1.40-3.38), and all-cause mortality (RR 1.41, 95% CI 1.00-2.01), respectively. Conclusion. TWI is a strong predictor for CHD, CVD, and all-cause mortality in the general population. The respective risks of CHD and CVD among men with TWI were also increased among men with high blood pressure, LDL cholesterol, and obesity. © 2015 Informa UK, Ltd.
Raatiniemi L.,Central Hospital of Lapland |
Lankimaki S.,University of Oulu |
Martikainen M.,University of Oulu
Acta Anaesthesiologica Scandinavica | Year: 2013
Background: Airway management is an important skill in prehospital emergency medicine. The most optimal method depends on the resources and experience of the emergency medical service (EMS) providers. We wanted to study the frequency of occurrence, equipment used, problems experienced and maintenance of skills in pre-hospital airway management by non-physicians. Methods: A structured questionnaire consisting of 30 questions was distributed to 383 EMS providers in three hospital districts (population 597,521 and area 147,467 km2) in Northern Finland. Results: The questionnaire was answered by 226 EMS providers and 58.5% (224/383) were included in the final analyses. In all, 82.6% (185/224) of the EMS providers were allowed to perform endotracheal intubation (ETI) and 44.2% (99/224) could perform ETI using sedative agents. The annual mean frequency of using a supraglottic airway device (SAD) was 1.0 (range 0-20, n = 224), for ETI it was 2.0 (range 0-16, n = 185) and for bagvalve-mask ventilation it was 4.3 (range 0-30, n = 223). The mean frequency of drug-assisted ETI was 1.1 (range 0-13, n = 99). Unsuccessful ETI had been experienced by 65.7% (119/181) of the EMS providers. Airway management had been practised in an operating room by 25.9% (56/216) and with a manikin by 81.3% (182/224) of the EMS providers during the past 12 months. Conclusion: Advanced airway management procedures are uncommon for most EMS providers in Northern Finland. Procedures, training in and maintenance of airway management skills should be re-evaluated. © 2013 The Acta Anaesthesiologica Scandinavica Foundation Published by Blackwell Publishing Ltd.
Hautala A.J.,Verve Medical |
Hautala A.J.,University of Oulu |
Karjalainen J.,Verve Medical |
Karjalainen J.,University of Oulu |
And 8 more authors.
American Journal of Physiology - Heart and Circulatory Physiology | Year: 2010
Heart rate (HR) variability (HRV) during ambulatory recordings may be affected by individual differences in daily physical activity (PA). However, the influence of various levels of PA on different measures of HRV is not exactly known. We examined the association between simultaneously measured HRV and objective PA data obtained with an accelerometer during waking hours among 45 healthy adults. Bouts of PA were identified from minute-by-minute accelerometer data as metabolic equivalent (METs) values and calculated as mean METs for 30 min. HRV was analyzed concurrently. Within-individual correlation analyses and sign tests were performed to study the relationships between various HRV indexes and PA. The mean PA time was 15:44 ± 1:01 h, and the mean MET was 1.91 ± 0.14. HR and sample entropy, but not the other measures of HRV, had a significant relationship with PA, as shown by both correlation analyses (r = 0.64, P = 0.021, and r = -0.55, P = 0.022, respectively) and sign tests (P < 0.0001 for both). Beat-to-beat R-R interval fluctuation expressed as SD1 also demonstrated a significant relation to PA according to the sign test (P = 0.037) and a trend of association according to the correlation analysis (r= -0.40, P = 0.129). The complexity measure of HRV, in addition to average HR and the short-term index of HRV (SD1), is significantly influenced by the level of PA during ambulatory conditions. Long-term HRV indexes remained relatively stable at various activity levels, making them the most robust indexes for the assessment of cardiac autonomic function during free-running ambulatory conditions. Copyright © 2010 American Physiological Society.