Browsing by Subject "Screening"

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  • Murtoniemi, Katja; Villa, Pia M.; Matomäki, Jaakko; Keikkala, Elina; Vuorela, Piia; Hämäläinen, Esa; Kajantie, Eero; Pesonen, Anu-Katriina; Räikkönen, Katri; Taipale, Pekka; Stenman, Ulf-Håkan; Laivuori, Hannele (2018)
    Background: The proportion of hyperglycosylated human chorionic gonadotropin (hCG-h) to total human chorionic gonadotropin (%hCG-h) during the first trimester is a promising biomarker for prediction of early-onset pre-eclampsia. We wanted to evaluate the performance of clinical risk factors, mean arterial pressure (MAP), %hCG-h, hCG beta, pregnancy-associated plasma protein A (PAPP-A), placental growth factor (PIGF) and mean pulsatility index of the uterine artery (Uta-PI) in the first trimester in predicting pre-eclampsia (PE) and its subtypes early-onset, late-onset, severe and non-severe PE in a high-risk cohort. Methods: We studied a subcohort of 257 high-risk women in the prospectively collected Prediction and Prevention of Pre-eclampsia and Intrauterine Growth Restriction (PREDO) cohort Multivariate logistic regression was used to construct the prediction models. The first model included background variables and MAP. Additionally, biomarkers were included in the second model and mean Uta-PI was included in the third model. All variables that improved the model fit were included at each step. The area under the curve (AUC) was determined for all models. Results: We found that lower levels of serum PIGF concentration were associated with early-onset PE, whereas lower %hCG-h was associated with the late-onset PE. Serum PIGF was lower and hCG beta higher in severe PE, while %hCG-h and serum PAPP-A were lower in non-severe PE. By using multivariate regression analyses the best prediction for all PE was achieved with the third model: AUC was 0.66, and sensitivity 36% at 90% specificity. Third model also gave the highest prediction accuracy for late-onset, severe and non-severe PE: AUC 0.66 with 32% sensitivity, AUC 0.65, 24% sensitivity and AUC 0.60, 22% sensitivity at 90% specificity, respectively. The best prediction for early-onset PE was achieved using the second model: AUC 0.68 and 20% sensitivity at 90% specificity. Conclusions: Although the multivariate models did not meet the requirements to be clinically useful screening tools, our results indicate that the biomarker profile in women with risk factors for PE is different according to the subtype of PE. The heterogeneous nature of PE results in difficulty to find new, clinically useful biomarkers for prediction of PE in early pregnancy in high-risk cohorts.
  • Murtoniemi, Katja; Villa, Pia M; Matomäki, Jaakko; Keikkala, Elina; Vuorela, Piia; Hämäläinen, Esa; Kajantie, Eero; Pesonen, Anu-Katriina; Räikkönen, Katri; Taipale, Pekka; Stenman, Ulf-Håkan; Laivuori, Hannele (BioMed Central, 2018)
    Abstract Background The proportion of hyperglycosylated human chorionic gonadotropin (hCG-h) to total human chorionic gonadotropin (%hCG-h) during the first trimester is a promising biomarker for prediction of early-onset pre-eclampsia. We wanted to evaluate the performance of clinical risk factors, mean arterial pressure (MAP), %hCG-h, hCGβ, pregnancy-associated plasma protein A (PAPP-A), placental growth factor (PlGF) and mean pulsatility index of the uterine artery (Uta-PI) in the first trimester in predicting pre-eclampsia (PE) and its subtypes early-onset, late-onset, severe and non-severe PE in a high-risk cohort. Methods We studied a subcohort of 257 high-risk women in the prospectively collected Prediction and Prevention of Pre-eclampsia and Intrauterine Growth Restriction (PREDO) cohort. Multivariate logistic regression was used to construct the prediction models. The first model included background variables and MAP. Additionally, biomarkers were included in the second model and mean Uta-PI was included in the third model. All variables that improved the model fit were included at each step. The area under the curve (AUC) was determined for all models. Results We found that lower levels of serum PlGF concentration were associated with early-onset PE, whereas lower %hCG-h was associated with the late-onset PE. Serum PlGF was lower and hCGβ higher in severe PE, while %hCG-h and serum PAPP-A were lower in non-severe PE. By using multivariate regression analyses the best prediction for all PE was achieved with the third model: AUC was 0.66, and sensitivity 36% at 90% specificity. Third model also gave the highest prediction accuracy for late-onset, severe and non-severe PE: AUC 0.66 with 32% sensitivity, AUC 0.65, 24% sensitivity and AUC 0.60, 22% sensitivity at 90% specificity, respectively. The best prediction for early-onset PE was achieved using the second model: AUC 0.68 and 20% sensitivity at 90% specificity. Conclusions Although the multivariate models did not meet the requirements to be clinically useful screening tools, our results indicate that the biomarker profile in women with risk factors for PE is different according to the subtype of PE. The heterogeneous nature of PE results in difficulty to find new, clinically useful biomarkers for prediction of PE in early pregnancy in high-risk cohorts. Trial registration International Standard Randomised Controlled Trial number ISRCTN14030412 , Date of registration 6/09/2007, retrospectively registered.
  • Aro, Aapo L.; Chugh, Sumeet S. (2017)
    In the present review, we summarize current approaches to the prevention of sudden cardiac death (SCD) in children and young adults, focusing on age
  • Tiittala, Paula; Tuomisto, Karolina; Puumalainen, Taneli; Lyytikäinen, Outi; Ollgren, Jukka; Snellman, Olli; Helve, Otto (2018)
    Background: Infectious disease screening of migrants at increased risk is a feature of national infection prevention and control measures. Asylum seekers in Finland are offered screening of tuberculosis (TB), hepatitis B, human immunodeficiency virus infection (HIV) and syphilis based on individual risk assessment. We aimed to evaluate the public health response to a large influx of asylum seekers to Finland in 2015-2016 with respect to national guidelines on initial health services and infectious disease screening. Methods: We used immigration and healthcare procurement data for all 38,134 asylum seekers to Finland during 2015-2016 to assess the implementation, timing and yields of infectious disease screening. Results: The coverage of pulmonary TB screening was 71.6% [95% CI 71.1-72.0%] and that of hepatitis B, HIV or syphilis 60. 6% [60.1-61.1%] among those eligible for screening. The estimated average delay from arrival to pulmonary TB screening was 74 days for adults and 43 days for children. Delay to hepatitis B, HIV and syphilis screening was 91 days for adults and 47 days for children. The seroprevalence of hepatitis B surface antigen positivity was 1.4% [95% CI 1.3-1.6%], HIV 0.3% [95% CI 0.1-0.4%] and Treponema pallidum specific antibodies 1.0% [95% CI 0.8-1.1%]. Data did not allow assessment of yields of pulmonary TB screening. Conclusions: Up to one third of asylum seekers were not reached by screening and screenings were delayed from target timeframes. Children, as a vulnerable population, were screened earlier than adults. To ensure higher screening coverage, infectious disease risks should be reassessed and screening completed at contacts to healthcare during the post-asylum phase of integration. The large influx of asylum seekers to Finland in 2015-2016 tested the country's public health preparedness. After action reviews of the public health response to the large migrant influx such as screening implementation can be used for evidence-based improvement of public health preparedness and guidelines for initial health services and infectious disease screening.
  • Tiittala, Paula; Tuomisto, Karolina; Puumalainen, Taneli; Lyytikäinen, Outi; Ollgren, Jukka; Snellman, Olli; Helve, Otto (BioMed Central, 2018)
    Abstract Background Infectious disease screening of migrants at increased risk is a feature of national infection prevention and control measures. Asylum seekers in Finland are offered screening of tuberculosis (TB), hepatitis B, human immunodeficiency virus infection (HIV) and syphilis based on individual risk assessment. We aimed to evaluate the public health response to a large influx of asylum seekers to Finland in 2015–2016 with respect to national guidelines on initial health services and infectious disease screening. Methods We used immigration and healthcare procurement data for all 38,134 asylum seekers to Finland during 2015–2016 to assess the implementation, timing and yields of infectious disease screening. Results The coverage of pulmonary TB screening was 71.6% [95% CI 71.1–72.0%] and that of hepatitis B, HIV or syphilis 60.6% [60.1–61.1%] among those eligible for screening. The estimated average delay from arrival to pulmonary TB screening was 74 days for adults and 43 days for children. Delay to hepatitis B, HIV and syphilis screening was 91 days for adults and 47 days for children. The seroprevalence of hepatitis B surface antigen positivity was 1.4% [95% CI 1.3–1.6%], HIV 0.3% [95% CI 0.1–0.4%] and Treponema pallidum specific antibodies 1.0% [95% CI 0.8–1.1%]. Data did not allow assessment of yields of pulmonary TB screening. Conclusions Up to one third  of asylum seekers were not reached by screening and screenings were delayed from target timeframes. Children, as a vulnerable population, were screened earlier than adults. To ensure higher screening coverage, infectious disease risks should be reassessed and screening completed at contacts to healthcare during the post-asylum phase of integration. The large influx of asylum seekers to Finland in 2015–2016 tested the country’s public health preparedness. After action reviews of the public health response to the large migrant influx such as screening implementation can be used for evidence-based improvement of public health preparedness and guidelines for initial health services and infectious disease screening.
  • Lynch, Fiona; Santana-Sanchez, Anita; Jämsä, Mikael; Sivonen, Anna Kaarina; Aro, Eva-Mari; Allahverdiyeva, Yagut (2015)
    The value and efficiency of microalgal biofuel production can be improved in an integrated system using waste streams as feed-stock, with fuel-rich biomass and treated wastewater being key end-products. We have evaluated seven native cyanobacterial isolates and one native green alga for their nutrient removal, biomass accumulation and lipid production capacities. All native isolates were successfully grown on synthetic wastewater mimicking secondary treated municipal wastewater (without organic carbon). Complete phosphate removal was achieved by the native green alga, isolated from Tvarminne (SW Finland). Optimisation of the C:N ratio available to this strain was achieved by addition of 3% CO2 and resulted in complete ammonium removal in synthetic wastewater. The native green alga demonstrated similar nutrient removal rates and even stronger growth in screened municipal wastewater, which had double the ammonium concentration of the synthetic media and also contained organic carbon. Sequencing of the genes coding for 18S small rRNA subunit and the ITS1 spacer region of this alga placed it in the Scenedesmaceae family. The lipid content of native isolates was evaluated using BODIPY (505/515) staining combined with high-throughput flow cytometry, where the native green alga demonstrated significantly greater neutral lipid accumulation than the cyanobacteria under the conditions studied. (C) 2015 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
  • Virtanen, Anni; Anttila, Ahti; Nieminen, Pekka (2015)
    Background: Offering self-sampling to non-attendees of cervical screening increases screening attendance. Methods: We used observations from two Finnish studies on the use of self-sampling among the non-attendees to estimate in a hypothetical screening population of 100,000 women the possible costs per extra screened woman and costs per extra detected and treated CIN2+ with three intervention strategies; 1) a primary invitation and a reminder letter, 2) a primary invitation and a mailed self-sampling kit and 3) two invitation letters and a self-sampling kit. The program costs were derived from actual performance and costs in the original studies and a national estimate on management costs of HPV related diseases. Results: The price per extra participant and price per detected and treated CIN2+ lesion was lower with a reminder letter than by self-sampling as a first reminder. When self-sampling was used as a second reminder with a low sampler price and a triage Pap-smear as a follow-up test for HPV-positive women instead of direct colposcopy referral, the eradication of a CIN2+ lesion by self-sampling was not more expensive than in routine screening, and the addition of two reminders to the invitation protocol did not increase the price of an treated CIN2+ lesion in the entire screened population. Conclusions: As a first reminder, a reminder letter is most likely a better choice. As second reminder, the higher costs of self-sampling might be compensated by the higher prevalence of CIN2+ in the originally non-attending population.
  • Kvaerner, Ane Sorlie; Birkeland, Einar; Bucher-Johannessen, Cecilie; Vinberg, Elina; Nordby, Jan Inge; Kangas, Harri; Bemanian, Vahid; Ellonen, Pekka; Botteri, Edoardo; Natvig, Erik; Rognes, Torbjorn; Hovig, Eivind; Lyle, Robert; Ambur, Ole Herman; de Vos, Willem M.; Bultman, Scott; Hjartaker, Anette; Landberg, Rikard; Song, Mingyang; Blix, Hege Salvesen; Ursin, Giske; Randel, Kristin Ranheim; de Lange, Thomas; Hoff, Geir; Holme, Oyvind; Berstad, Paula; Rounge, Trine B. (2021)
    Background: Colorectal cancer (CRC) screening reduces CRC incidence and mortality. However, current screening methods are either hampered by invasiveness or suboptimal performance, limiting their effectiveness as primary screening methods. To aid in the development of a non-invasive screening test with improved sensitivity and specificity, we have initiated a prospective biomarker study (CRCbiome), nested within a large randomized CRC screening trial in Norway. We aim to develop a microbiome-based classification algorithm to identify advanced colorectal lesions in screening participants testing positive for an immunochemical fecal occult blood test (FIT). We will also examine interactions with host factors, diet, lifestyle and prescription drugs. The prospective nature of the study also enables the analysis of changes in the gut microbiome following the removal of precancerous lesions. Methods: The CRCbiome study recruits participants enrolled in the Bowel Cancer Screening in Norway (BCSN) study, a randomized trial initiated in 2012 comparing once-only sigmoidoscopy to repeated biennial FIT, where women and men aged 50-74 years at study entry are invited to participate. Since 2017, participants randomized to FIT screening with a positive test result have been invited to join the CRCbiome study. Self-reported diet, lifestyle and demographic data are collected prior to colonoscopy after the positive FIT-test (baseline). Screening data, including colonoscopy findings are obtained from the BCSN database. Fecal samples for gut microbiome analyses are collected both before and 2 and 12 months after colonoscopy. Samples are analyzed using metagenome sequencing, with taxonomy profiles, and gene and pathway content as primary measures. CRCbiome data will also be linked to national registries to obtain information on prescription histories and cancer relevant outcomes occurring during the 10 year follow-up period. Discussion: The CRCbiome study will increase our understanding of how the gut microbiome, in combination with lifestyle and environmental factors, influences the early stages of colorectal carcinogenesis. This knowledge will be crucial to develop microbiome-based screening tools for CRC. By evaluating biomarker performance in a screening setting, using samples from the target population, the generalizability of the findings to future screening cohorts is likely to be high.
  • Mustelin, Linda; Kärkkäinen, Ulla; Kaprio, Jaakko; Keski-Rahkonen, Anna (2016)
    Background: We assessed whether the Eating Disorder Inventory (EDI) is suitable for screening binge eating disorder (BED) in young women. Method: Young women (N = 2825) from the 1975-79 birth cohorts of Finnish twins were assessed by questionnaires, including subscales of the EDI. For a subset of women (N = 548), we established DSM-5 diagnoses of BED; 16 women had lifetime BED. We compared screening properties of the EDI scales using receiver operating characteristic (ROC) analysis, determined optimal cutoff points, and calculated sensitivities and specificities. Results: The best screen for DSM-5 BED was the global score of three subscales (Bulimia, Drive for Thinness, Body Dissatisfaction) with an area under the curve (AUC) of 0.86. Its sensitivity was 87% and specificity 76% at cutoff >= 21. Three individual subscales had acceptable screening properties: Bulimia (AUC 0.83; sensitivity 80%, specificity 78% at cutoff >= 2), Drive For Thinness (AUC 0.82; sensitivity 87%, specificity 72% at cutoff >= 7), and Body Dissatisfaction (AUC 0.81; sensitivity 93%, specificity 60% at cutoff >= 8). Conclusion: The EDI performed well as a screening tool for BED in our community-based sample of young twin women. Future studies should assess its value in other populations and in clinical settings. (C) 2016 Elsevier Ltd. All rights reserved.
  • Saarela, Ville; Karvonen, Elina; Stoor, Katri; Hagg, Pasi; Luodonpaa, Marja; Kuoppala, Jaana; Taanila, Anja; Tuulonen, Anja (2013)
  • Rehm, Juergen; Anderson, Peter; Prieto, Jose Angel Arbesu; Armstrong, Iain; Aubin, Henri-Jean; Bachmann, Michael; Bastus, Nuria Bastida; Brotons, Carlos; Burton, Robyn; Cardoso, Manuel; Colom, Joan; Duprez, Daniel; Gmel, Gerrit; Gual, Antoni; Kraus, Ludwig; Kreutz, Reinhold; Liira, Helena; Manthey, Jakob; Moller, Lars; Okruhlica, Lubomir; Roerecke, Michael; Scafato, Emanuele; Schulte, Bernd; Segura-Garcia, Lidia; Shield, Kevin David; Sierra, Cristina; Vyshinskiy, Konstantin; Wojnarand, Marcin; Zarco, Jose (2017)
    Background: Hazardous and harmful alcohol use and high blood pressure are central risk factors related to premature non-communicable disease (NCD) mortality worldwide. A reduction in the prevalence of both risk factors has been suggested as a route to reach the global NCD targets. This study aims to highlight that screening and interventions for hypertension and hazardous and harmful alcohol use in primary healthcare can contribute substantially to achieving the NCD targets. Methods: A consensus conference based on systematic reviews, meta-analyses, clinical guidelines, experimental studies, and statisticalmodelling which had been presented and discussed in five preparatory meetings, was undertaken. Specifically, we modelled changes in blood pressure distributions and potential lives saved for the five largest European countries if screening and appropriate intervention rates in primary healthcare settings were increased. Recommendations to handle alcohol-induced hypertension in primary healthcare settings were derived at the conference, and their degree of evidence was graded. Results: Screening and appropriate interventions for hazardous alcohol use and use disorders could lower blood pressure levels, but there is a lack in implementing these measures in European primary healthcare. Recommendations included (1) an increase in screening for hypertension (evidence grade: high), (2) an increase in screening and brief advice on hazardous and harmful drinking for people with newly detected hypertension by physicians, nurses, and other healthcare professionals (evidence grade: high), (3) the conduct of clinical management of less severe alcohol use disorders for incident people with hypertension in primary healthcare (evidence grade: moderate), and (4) screening for alcohol use in hypertension that is not well controlled (evidence grade: moderate). The first three measures were estimated to result in a decreased hypertension prevalence and hundreds of saved lives annually in the examined countries. Conclusions: The implementation of the outlined recommendations could contribute to reducing the burden associated with hypertension and hazardous and harmful alcohol use and thus to achievement of the NCD targets. Implementation should be conducted in controlled settings with evaluation, including, but not limited to, economic evaluation.
  • Barim, Estela Maria; McLellan, Kátia Cristina Portero; Ribeiro, Rogerio Silicani; de Carvalho, José Antonio Maluf; Lindström, Jaana; Tuomilehto, Jaakko; Corrente, José Eduardo; Murta-Nascimento, Cristiane (2020)
    Introduction: The Finnish Diabetes Risk Score (FINDRISC) is a tool that was initially developed to predict the risk of developing type 2 diabetes mellitus in adults. This tool is simple, quick to apply, non-invasive, and low-cost. The aims of this study were to perform a translation and cultural adaptation of the original version of FINDRISC into Brazilian Portuguese and to assess test-retest reliability. Methodology: This work was done following the ISPOR Principles of Good Practice for the Translation and Cultural Adaptation Process for Patient-Reported Outcomes Measures. Once the final Brazilian Portuguese version (FINDRISC-Br) was developed, the reliability assessment was performed using a non-random sample of 83 individuals attending a primary care health center. Each participant was interviewed by trained registered dieticians on two occasions with a mean interval of 14 days. The reliability assessment was performed by analyzing the level of agreement between the test-retest responses of FINDRISC-Br using Cohen’s kappa coefficient and the intraclass correlation coefficient (ICC). Results: The steps of ISPOR guidelines were consecutively followed without major problems. Regarding the reliability assessment, the questionnaire as a whole presented adequate reliability (Cohen’s kappa = 0.82, 95%CI 0.72 – 0.92 and ICC = 0.94, 95%CI 0.91 – 0.96). Conclusion: FINDRISC was translated into Brazilian Portuguese and culturally adapted following standard procedures. FINDRISC-Br has thus become available for use and has potential as a screening tool in different Brazilian settings and applications. © 2020 Associação Brasileira de Saúde Coletiva.
  • Äärelä, Linnea; Hiltunen, Pauliina; Soini, Tea; Vuorela, Nina; Huhtala, Heini; Nevalainen, Pasi I; Heikinheimo, Markku; Kivelä, Laura; Kurppa, Kalle (BioMed Central, 2020)
    Abstract Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for later complications, the significance of drug levels and the normalization of laboratory and imaging findings are poorly known. We investigated these issues in a nationwide study. Results Type 1 tyrosinemia was diagnosed in 22 children in 1978–2019 in Finland. Incidence was 1/90,102, with a significant enrichment in South Ostrobothnia (1/9990). Median age at diagnosis was 5 (range 0.5–36) months, 55% were girls and 13 had homozygotic Trp262X mutation. Four patients were detected through screening and 18 clinically, their main findings being liver failure (50% vs. 100%, respectively, p = 0.026), ascites (0% vs. 53%, p = 0.104), renal tubulopathy (0% vs. 65%, p = 0.035), rickets (25% vs. 65%, p = 0.272), growth failure (0% vs. 66%, p = 0.029), thrombocytopenia (25% vs. 88%, p = 0.028) and anaemia (0% vs. 47%, p = 0.131). One patient was treated with diet, seven with transplantation and 14 with nitisinone. Three late-diagnosed (6–33 months) nitisinone treated patients needed transplantation later. Kidney dysfunction (86% vs. 7%, p = 0.001), hypertension (57% vs. 7%, p = 0.025) and osteopenia/osteoporosis (71% vs. 14%, p = 0.017) were more frequent in transplanted than nitisinone-treated patients. Blood/serum alpha-fetoprotein decreased rapidly on nitisinone in all but one patient, who later developed intrahepatic hepatocellular carcinoma. Liver values normalized in 31 months and other laboratory values except thrombocytopenia within 18 months. Imaging findings normalized in 3–56 months excluding five patients with liver or splenic abnormalities. Low mean nitisinone concentration was associated with higher risk of severe complications (r = 0.758, p = 0.003) despite undetectable urine succinylacetone. Conclusions Prognosis of type 1 tyrosinemia has improved in the era of nitisinone, and NBS seems to provide further benefits. Nevertheless, the long-term risk for complications remains, particularly in the case of late diagnosis and/or insufficient nitisinone levels.
  • Äärelä, Linnea; Hiltunen, Pauliina; Soini, Tea; Vuorela, Nina; Huhtala, Heini; Nevalainen, Pasi I.; Heikinheimo, Markku; Kivelä, Laura; Kurppa, Kalle (2020)
    Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure. Also, the predictors for later complications, the significance of drug levels and the normalization of laboratory and imaging findings are poorly known. We investigated these issues in a nationwide study. Results Type 1 tyrosinemia was diagnosed in 22 children in 1978-2019 in Finland. Incidence was 1/90,102, with a significant enrichment in South Ostrobothnia (1/9990). Median age at diagnosis was 5 (range 0.5-36) months, 55% were girls and 13 had homozygotic Trp262X mutation. Four patients were detected through screening and 18 clinically, their main findings being liver failure (50% vs. 100%, respectively, p = 0.026), ascites (0% vs. 53%, p = 0.104), renal tubulopathy (0% vs. 65%, p = 0.035), rickets (25% vs. 65%, p = 0.272), growth failure (0% vs. 66%, p = 0.029), thrombocytopenia (25% vs. 88%, p = 0.028) and anaemia (0% vs. 47%, p = 0.131). One patient was treated with diet, seven with transplantation and 14 with nitisinone. Three late-diagnosed (6-33 months) nitisinone treated patients needed transplantation later. Kidney dysfunction (86% vs. 7%, p = 0.001), hypertension (57% vs. 7%, p = 0.025) and osteopenia/osteoporosis (71% vs. 14%, p = 0.017) were more frequent in transplanted than nitisinone-treated patients. Blood/serum alpha-fetoprotein decreased rapidly on nitisinone in all but one patient, who later developed intrahepatic hepatocellular carcinoma. Liver values normalized in 31 months and other laboratory values except thrombocytopenia within 18 months. Imaging findings normalized in 3-56 months excluding five patients with liver or splenic abnormalities. Low mean nitisinone concentration was associated with higher risk of severe complications (r = 0.758, p = 0.003) despite undetectable urine succinylacetone. Conclusions Prognosis of type 1 tyrosinemia has improved in the era of nitisinone, and NBS seems to provide further benefits. Nevertheless, the long-term risk for complications remains, particularly in the case of late diagnosis and/or insufficient nitisinone levels.
  • Puhakka, Laura; Pati, Sunil; Lappalainen, Maija; Lönnqvist, Tuula; Niemensivu, Riina; Lindahl, Päivi; Nieminen, Tea; Seuri, Raija; Nupponen, Irmeli; Boppana, Suresh; Saxen, Harri (2020)
    Background Children with congenital CMV infection (cCMV) shed virus in urine and saliva for prolonged periods of time. Outcome of cCMV varies from asymptomatic infection with no sequelae in most cases, to severe longterm morbidity. The factors associated with asymptomatic cCMV are not well defined. We evaluated the viral shedding in a cohort of infants with cCMV identified on newborn screening. In addition, we describe the distribution of viral genotypes in our cohort of asymptomatic infants and previous cohorts of cCMV children in the literature. Methods Study population consisted of 40 children with cCMV identified in screening of 19,868 infants, a prevalence of 2/1000. The viral shedding was evaluated at 3 and 18 months of age by real-time CMV-PCR of saliva and plasma, and CMV culture of urine. CMV positive saliva samples were analyzed for genotypes for CMV envelope glycoproteins gB (UL55), and gH (UL75) by genotype specific real-time PCR, and gN (UL73) by cloning and sequencing Results At 3 months age 40/40 saliva and urine samples, and 19/40 plasma samples were positive for CMV. At 18 months age all urine samples tested (33/33), 9/37 of saliva samples, and 2/34 plasma samples were positive for CMV. The genotype distribution did not differ from the published data Conclusions The urinary virus shedding is more persistent than salivary shedding in children with cCMV. The genotype distribution was similar to previous literature and does not explain the low disease burden of cCMV in our population.
  • Nevalainen, Jaakko; Stenman, Ulf-Hakan; Tammela, Teuvo L.; Roobol, Monique; Carlssone, Sigrid; Talalag, Kirsi; Schroder, Fritz H.; Auvinen, Anssi (2017)
    Background: The European Randomised study of Screening for Prostate Cancer (ERSPC) is a multicentre, randomised screening trial on men aged 55-69 years at baseline without known prostate cancer (PrCa) at randomisation to an intervention arm invited to screening or to a control arm. The ERSPC has shown a significant 21% reduction in PrCa mortality at 13 years of follow-up. The effect of screening appears to vary across centres, for which several explanations are possible. We set to assess if the apparent differences in PrCa mortality reduction between the centres can be explained by differences in screening protocols. Methods: We examined the centre differences by developing a simulation model and estimated how alternative screening protocols would have affected PrCa mortality. Results: Our results showed outcomes similar to those observed, when the results by centres were reproduced by simulating the screening regimens with PSA threshold of 3 versus 4 ng/ml, or screening interval of two versus four years. The findings suggest that the differences are only marginally attributable to the different screening protocols. Conclusion: The small screening impact in Finland was not explained by the differences in the screening protocols. A possible reason for it was the contamination of and the unexpectedly low PrCa mortality in the Finnish control arm. (C) 2016 Elsevier Ltd. All rights reserved.
  • Nikander, Kirsi M; Kosola, Silja Katriina; Kaila, Minna Meeri Inkeri; Hermanson, Elina (2018)
    Background: School health services provide an excellent opportunity for the detection and treatment of children at risk of later health problems. However, the optimal use of school doctors' skills and expertise remains unknown. Furthermore, no validated method for screening children for school doctors' assessments exists. The aims of the study are 1) to evaluate the benefits or harm of school doctors' routine health checks in primary school grades 1 and 5 (at ages 7 and 11) and 2) to explore whether some of the school doctors' routine health checks can be omitted using study questionnaires. Methods: This is a prospective, multicenter observational study conducted in four urban municipalities in Southern Finland by comparing the need for a school doctor's assessment to the benefit gained from it. We will recruit a random sample of 1050 children from 21 schools from primary school grades 1 and 5. Before the school doctor's health check, parents, nurses and teachers fill a study questionnaire to identify any potential concerns about each child. Doctors, blinded to the questionnaire responses, complete an electronic report after the appointment, including given instructions and follow-up plans. The child, parent, doctor and researchers assess the benefit of the health check. The researchers compare the need for a doctor's appointment to the benefit gained from it. At one year after the health check, we will analyze the implementation of the doctors' interventions and follow-up plans. Discussion: The study will increase our knowledge of the benefits of school doctors' routine health checks arid assess the developed screening method. We hypothesize that targeting the health checks to the children in greatest need would increase the quality of school health services.
  • Nikander, Kirsi; Kosola, Silja; Kaila, Minna; Hermanson, Elina (BioMed Central, 2018)
    Abstract Background School health services provide an excellent opportunity for the detection and treatment of children at risk of later health problems. However, the optimal use of school doctors’ skills and expertise remains unknown. Furthermore, no validated method for screening children for school doctors’ assessments exists. The aims of the study are 1) to evaluate the benefits or harm of school doctors’ routine health checks in primary school grades 1 and 5 (at ages 7 and 11) and 2) to explore whether some of the school doctors’ routine health checks can be omitted using study questionnaires. Methods This is a prospective, multicenter observational study conducted in four urban municipalities in Southern Finland by comparing the need for a school doctor’s assessment to the benefit gained from it. We will recruit a random sample of 1050 children from 21 schools from primary school grades 1 and 5. Before the school doctor’s health check, parents, nurses and teachers fill a study questionnaire to identify any potential concerns about each child. Doctors, blinded to the questionnaire responses, complete an electronic report after the appointment, including given instructions and follow-up plans. The child, parent, doctor and researchers assess the benefit of the health check. The researchers compare the need for a doctor’s appointment to the benefit gained from it. At one year after the health check, we will analyze the implementation of the doctors’ interventions and follow-up plans. Discussion The study will increase our knowledge of the benefits of school doctors’ routine health checks and assess the developed screening method. We hypothesize that targeting the health checks to the children in greatest need would increase the quality of school health services. Trial registration ClinicalTrials.gov Identifier: NCT03178331 , date of registration June 6 th 2017.