Browsing by Subject "DISORDERS"

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  • Nemaline Working Grp; Neuhaus, Sarah B.; Wallgren-Pettersson, Carina; Bönnemann, Carsten G.; Schara, Ulrike; Servais, Laurent (2020)
  • Laukkanen, Eila; Hintikka, Jukka J.; Kylma, Jari; Kekkonen, Virve; Marttunen, Mauri (2010)
  • Pikkarainen, Sampsa; Martelius, Timi; Ristimäki, Ari; Siitonen, Sanna; Seppänen, Mikko R. J.; Färkkilä, Martti (2019)
    OBJECTIVES: Common variable immunodeficiency (CVID) is associated with a spectrum of autoimmune complications. We studied the prevalence of gastrointestinal (GI) manifestations and infections in patients with CVID. METHODS: Complete clinical data of 132 Finnish patients with CVID (106 probable and 26 possible CVID) followed up between 2007 and 2016 were collected to a structured database. Data on endoscopies, histology, and laboratory studies were retrieved from patient files. RESULTS: Most common referral indications were diarrhea and/or weight loss (47%-67%). Patients with probable CVID had higher fecal calprotectin and a1-antitrypsin and lower blood vitamin B12 than patients with possible CVID. Gastroscopy and colonoscopy were done to 71 (67%) and 63 (59%) patients with probable CVID, respectively. Endoscopies showed that 15% of them had chronic active gastritis and 17% atrophic gastritis and 3% had gastric adenocarcinoma. A celiac sprue-like condition was found in 7 patients (10%), of whom 3 responded to a gluten-free diet. Colonoscopies demonstrated unspecific colitis (14%), ulcerative colitis (8%), microscopic colitis (10%), and Crohn's disease (2%). Colonic polyps were noted in30% of patients, and3% had lower GI malignancies. Thirty-five patients with CVID had bacterial or parasitic gastroenteritis; chronic norovirus was detected in 4 patients with probable CVID. Patients with GI inflammation had higher levels of fecal calprotectin and blood CD81 T lymphocytes but lower counts of CD191CD271 memory B cells and/or CD191 B cells. Immunophenotype with low B-cell counts was associated with higher fecal calprotectin levels. DISCUSSION: Patients with CVID had a high prevalence of GI manifestations and infections of the GI tract. GI inflammation was associated with a distinct immunophenotype and elevated fecal calprotectin.
  • Sarviaho, R.; Hakosalo, O.; Tiira, K.; Sulkama, S.; Niskanen, J. E.; Hytonen, M. K.; Sillanpää, M. J.; Lohi, H. (2020)
    The complex phenotypic and genetic nature of anxieties hampers progress in unravelling their molecular etiologies. Dogs present extensive natural variation in fear and anxiety behaviour and could advance the understanding of the molecular background of behaviour due to their unique breeding history and genetic architecture. As dogs live as part of human families under constant care and monitoring, information from their behaviour and experiences are easily available. Here we have studied the genetic background of fearfulness in the Great Dane breed. Dogs were scored and categorised into cases and controls based on the results of the validated owner-completed behavioural survey. A genome-wide association study in a cohort of 124 dogs with and without socialisation as a covariate revealed a genome-wide significant locus on chromosome 11. Whole exome sequencing and whole genome sequencing revealed extensive regions of opposite homozygosity in the same locus on chromosome 11 between the cases and controls with interesting neuronal candidate genes such as MAPK9/JNK2, a known hippocampal regulator of anxiety. Further characterisation of the identified locus will pave the way for molecular understanding of fear in dogs and may provide a natural animal model for human anxieties.
  • Jackson, Christopher B.; Hahn, Dagmar; Schroter, Barbara; Richter, Uwe; Battersby, Brendan J.; Schmitt-Mechelke, Thomas; Marttinen, Paula; Nuoffer, Jean-Marc; Schaller, Andre (2017)
    We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells. Enzymatic and oxymetric analysis of the mitochondrial respiratory system in the patients' skeletal muscle and skin fibroblasts demonstrated an isolated complex V deficiency. Native PAGE with subsequent immunoblotting for complex V revealed impaired complex V assembly and accumulation of ATPase subcomplexes. Whilst northern blotting confirmed equal presence of ATP8/6 mRNA, metabolic S-35-labelling of mitochondrial translation products showed a severe depletion of the ATP6 protein together with aberrant translation product accumulation. In conclusion, this novel isolated complex V defect expands the clinical and genetic spectrum of mitochondrial defects of complex V deficiency. Furthermore, this work confirms the benefit of native PAGE as an additional diagnostic method for the identification of OXPHOS defects, as the presence of complex V subcomplexes is associated with pathogenic mutations of mtDNA. (C) 2017 Elsevier Masson SAS. All rights reserved.
  • Raisanen, Sari; Hogue, Carol J. R.; Laine, Katariina; Kramer, Michael R.; Gissler, Mika; Heinonen, Seppo (2018)
    ObjectiveTo examine the effect of pregnancy history on the risk of stillbirth. MethodsIn a population-based cross-sectional study, data were reviewed from all women aged at least 20years with singleton pregnancies in Finland between 2000 and 2010. The primary outcomestillbirthwas defined as fetal death after 22 gestational weeks or death of a fetus weighing at least 500g. ResultsAmong 604047 singleton pregnancies, the prevalence of stillbirth was 3.17 per 1000 deliveries. Prevalence was lowest for multiparous women without previous pregnancy loss after adjusting for major pregnancy complications associated with stillbirth (placenta previa, placental abruption, and pre-eclampsia) and other confounders. Relative to these women, stillbirth prevalence was higher among multiparous women with previous spontaneous abortion and/or stillbirth (adjusted odds ratio [aOR] 1.20, 95% confidence interval [CI] 1.05-1.36), nulliparous women with no previous pregnancy loss (aOR 1.23, 95% CI 1.10-1.38), and nulliparous women with prior spontaneous abortion (aOR 1.43, 95% CI 1.18-1.74). ConclusionPrevious pregnancy loss was found to be an independent risk factor for stillbirth, irrespective of the number of prior deliveries. Spontaneous abortion assessed as a part of pregnancy history was found to be an independent risk factor for stillbirth.
  • Jokela, Johanna; Tapiovaara, Laura; Lundberg, Marie; Haapaniemi, Aaro; Bäck, Leif; Saarinen, Riitta (2018)
    Objectives. To evaluate the incidence and nature of complications associated with diagnostic and interventional sialendoscopies and to report intervention failures in a prospective setup. Study Design. Prospective observational study. Setting. Academic tertiary care university hospital. Subjects and Methods. Patients who underwent diagnostic or interventional sialendoscopy between October 2015 and December 2016 were prospectively enrolled. Patient data, operation-related factors, treatment failures, and complications were recorded into a database and analyzed. Results. A total of 140 sialendoscopies were attempted or performed on 118 patients; 67 (48%) were for a parotid gland and 73 (52%) for a submandibular gland. The sialendoscopy was interventional in 81 cases (58%), diagnostic in 56 (40%), and not possible to perform in 3 (2.1%). A total of 21 complications were registered for 21 sialendoscopies (15%) and 21 patients (18%). The most common complication was infection, in 9 cases (6.4%). Other observed complications were salivary duct perforation (4 cases), prolonged glandular swelling (3 cases), transient lingual nerve analgesia (2 cases), basket entrapment (2 cases), and transient weakness in the marginal branch of the facial nerve (1 case). All complications were related to interventional procedures or papilla dilatation. Failure to treat occurred in 21 (15%) sialendoscopies: sialendoscopy itself was unsuccessful in 3 cases, and an intended intervention failed in 18 cases. Conclusion. Complications in sialendoscopy are usually related to interventional procedures. The complications are mainly minor and temporary but lead to additional follow-up visits, further treatments, and sometimes hospitalization. Sialendoscopic procedures are safe but not free of complications.
  • Helbig, Katherine L.; Hedrich, Ulrike B. S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpaa, Leena; Karle, Kathrin N.; Synofzik, Matthis; Schols, Ludger; Schule, Rebecca; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R. (2016)
    The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H), encoding the voltage-gated K+-channel, K(V)1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia. Follow-up analysis of >2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. Two-electrode voltage-clamp recordings of Xenopus laevis oocytes expressing mutant KV1.2 channels showed loss of function with a dominant-negative effect. Our findings highlight the phenotypic spectrum of a recurrent KCNA2 mutation, implicating ion channel dysfunction as a novel HSP disease mechanism.
  • Levola, Jonna M.; Sailas, Eila S.; Saamanen, Timo S.; Turunen, Leena M.; Thomson, Annika C. (2019)
    Background: The focus of emergency room (ER) treatment is on acute medical crises, but frequent users of ER services often present with various needs. The objectives of this study were to obtain information on persistent frequent ER service users and to determine reasons for their ER service use. We also sought to determine whether psychiatric diagnoses or ongoing use of psychiatric or substance use disorder treatment services were associated with persistent frequent ER visits. Methods: A cohort (n = 138) of persistent frequent ER service users with a total of 2585 ER visits during a two-year-period was identified. A content analysis was performed for 10% of these visits. Register data including International Classification of Primary Care 2 (ICPC-2) -codes and diagnoses were analyzed and multivariable models were created in order to determine whether psychiatric diagnoses and psychosocial reasons for ER service use were associated with the number of ER visits after adjusting for covariates. Results: Patients who were younger, had a psychiatric diagnosis and engaged in ongoing psychiatric and other health services, had more ER visits than those who were not. Having a psychiatric diagnosis was associated with the frequency of ER visits in the multivariable models after adjusting for age, gender and ongoing use of psychiatric or substance use disorder treatment services. Reasons for ER-service use according to ICPC-2 -codes were inadequately documented. Conclusions: Patients with psychiatric diagnoses are overrepresented in this cohort of persistent frequent ER service users. More efficient treatments paths are needed for patients to have their medical needs met through regular appointments.
  • Viranta, Suvi; Mannermaa, Kristiina (2017)
    Development of dental abnormalities due to improper occlusal wear is common among modern domestic horses. This phenomenon often is attributed to jaw conformation. Rostral mandibular hooks may develop in horses with underjet or mandibular prognathism, a condition where the lower jaw protrudes forward, beyond the upper jaw. Less abrasive diet, free of phytoliths and matrix-like plant fibers, also may promote enamel and focal overgrowths of equine dentition. Here we report a rostral mandibular hook in a lower premolar tooth of a medieval horse, found in a spring deposit in Levanluhta, Osthrobothnia, Finland. To our knowledge, this is the first such report from a medieval horse. (C) 2017 Elsevier Inc. All rights reserved.
  • Raevuori, Anu; Vahlberg, Tero; Korhonen, Tellervo; Hilgert, Outi; Aittakumpu-Hyden, Raija; Forman-Hoffman, Valerie (2021)
    Background: Meru Health Program (MHP) is a therapist-guided, 8-week intervention for depression delivered via smartphone. The aim was to test its efficacy in patients with clinical depression in a Finnish university student health service.& nbsp; Methods: Patients (n=124, women 72.6%, mean age 25y) were stratified based on antidepressant status, and randomized into intervention group receiving MHP plus treatment as usual (TAU), and control group receiving TAU only. Depression, measured by the Patient Health Questionnaire-9 (PHQ-9) scale, was the primary outcome. After baseline (T0), follow-ups were at mid-intervention (T4), immediately post-intervention (T8); 3 months (T20), and 6 months (T32) post-intervention.& nbsp; Results: The intervention group and control group did not have significant differences in depression outcomes throughout end of treatment and follow-up. Among secondary outcomes, increase in resilience (d=0.32, p=0.03) and mindfulness (d=0.57, p=0.002), and reduction in perceived stress (d=-0.52, p=0.008) were greater in MHP+TAU versus TAU at T32; no differences were found in anxiety, sleep disturbances, and quality of life between groups. Post-hoc comparisons of patients on antidepressants showed significantly greater reduction in depression at T32 for MHP+TAU versus TAU (d=-0.73, p=0.01); patients not on antidepressants showed no between-group differences.& nbsp; Limitations: Limitations include unknown characteristics of TAU, potential bias from patients and providers not being blinded to treatment group, and failure to specify examination of differences by antidepressant status in the protocol.& nbsp; & nbsp;Conclusions: Most outcomes, including depression, did not significantly differ between MHP+TAU and TAU. Exploratory analysis revealed intervention effect at the end of the 6-month follow-up among patients on anti-depressant medication.
  • Kucuk, Can; Jiang, Bei; Hu, Xiaozhou; Zhang, Wenyan; Chan, John K. C.; Xiao, Wenming; Lack, Nathan; Alkan, Can; Williams, John C.; Avery, Kendra N.; Kavak, Pinar; Scuto, Anna; Sen, Emel; Gaulard, Philippe; Staudt, Lou; Iqbal, Javeed; Zhang, Weiwei; Cornish, Adam; Gong, Qiang; Yang, Qunpei; Sun, Hong; d'Amore, Francesco; Leppa, Sirpa; Liu, Weiping; Fu, Kai; de Leval, Laurence; McKeithan, Timothy; Chan, Wing C. (2015)
  • Koivuaho, E.; Laru, J.; Ojaniemi, M.; Puukka, K.; Kettunen, J.; Tapanainen, J. S.; Franks, S.; Järvelin, M. -R.; Morin-Papunen, L.; Sebert, S.; Piltonen, T. T. (2019)
    Background: Adiposity rebound (AR), the second BMI rise in childhood at around the age of 6 years, is associated with obesity and metabolic alteration in later life. Given that polycystic ovary syndrome (PCOS) has a strong metabolic component, early life growth patterns could reveal a risk of PCOS. Thus, we aimed to investigate the associations between age at AR and PCOS diagnosis and BMI later in life. Materials and methods: This study is part of a prospective, population-based longitudinal study, where women with PCOS diagnosis by age 46 (n = 280) were compared with asymptomatic women (CTRLs, n = 1573). Weight and height data from birth to age 13 years, at age at menarche, and at ages 31 and 46 years were analyzed Results: Women with PCOS had lower birth weight (3357 +/- 477 vs. 3 445 +/- 505 g, p <0.001), earlier age at AR (5.2 +/- 1.0 vs. 5.6 +/- 0.90 years, p <0.001) and higher BMI from AR onwards compared with controls. Early timing of AR was associated with PCOS diagnosis independently of BMI (OR 1.62, 95% CI 1.37-1.92). Women with PCOS and early AR had higher BMI at 31 and 46 years when compared to controls with early AR. The age at AR did not associate with T levels at ages 31 or 46 years. Conclusions: Early AR was associated with PCOS diagnosis and high BMI in adulthood. Adolescent girls with early AR and persisting obesity should be screened for PCOS symptoms, such as persistent irregular cycles and hirsutism.
  • Mattila-Holappa, Pauliina; Kausto, Johanna; Aalto, Ville; Kaila-Kangas, Leena; Kivimäki, Mika; Oksanen, Tuula; Ervasti, Jenni (2021)
    PurposeAlternative duty work is a procedure that enables an employee with a short-term disability to perform modified duties as an alternative to sickness absence. We examined whether the implementation of an alternative duty policy was associated with reduced sickness absence in the Finnish public sector.MethodsTwo city administrations (A and D) that implemented an alternative duty work policy to their employees (n=5341 and n=7538) served as our intervention cities, and two city administrations (B and C) that did not implement the policy represented the reference cities (n=6976 and n=6720). The outcomes were the number of annual days, all episodes, and short-term (
  • Moustgaard, Heta; Joutsenniemi, Kaisla; Myrskyla, Mikko; Martikainen, Pekka (2014)
  • Rantonen, O.; Alexanderson, K.; Clark, A. J.; Aalto, P.; Sonden, A.; Bronnum-Hansen, H.; Hougaard, C. O.; Rod, N. H.; Mittendorfer-Rutz, E.; Kivimäki, M.; Oksanen, T.; Salo, P. (2019)
    Background: Social workers have an elevated risk for mental disorders, but little is known about their antidepressant treatment. Aims: To examine any and long-term antidepressant treatment among social workers in Finland, Sweden and Denmark. Methods: We linked records from drug prescription registers to three prospective cohorts: the Finnish Public Sector study, years 2006-2011, and nation-wide cohorts in Sweden and Denmark, years 2006-2014, including a total of 1.5 million employees in (1) social work, (2) other social and health care professions, (3) education and (4) office work. We used Cox proportional hazards models to estimate hazard ratios for any and long-term (>6 months) antidepressant treatment among social workers compared to the three reference occupational groups and carried out meta-analyses. Results: During follow-up, 25% of social workers had any prescriptions for antidepressants (19-24% reference occupations) and 20% for long-term treatment (14-19% reference occupations). The pooled effects for any and long-term treatment showed that probabilities were 10% higher in social workers compared to other health and social care professionals and 30% higher compared to education and non-human service professionals. Probabilities for any treatment in the three countries were relatively similar, but for long-term treatment social workers in Finland had a greater risk compared with other human service professions. Limitations: There were differences between the cohorts in the availability of data. Specific diagnoses for the antidepressant treatment were not known neither adherence to treatment. Conclusion: Social workers have a higher risk for any and long-term antidepressant treatment than other human and non-human service professionals.
  • Pettilä, Ville; Kyhälä, Lea; Kylänpää, Marja-Leena; Leppäniemi, Ari; Tallgren, Minna; Markkola, Antti Thor Olavi; Puolakkainen, Pauli; Repo, Heikki; Kemppainen, Esko (2010)
  • Aromaa, M.; Lilja-Maula, L.; Rajamäki, M. M. (2019)
    Brachycephalic obstructive airway syndrome (BOAS) is a major welfare problem in short-nosed breeds, such as the French Bulldog and Pug. In addition to respiratory difficulties, exercise intolerance and impaired recovery are major signs of BOAS. To select healthier breeding animals, exercise tolerance tests, such as the 1,000-m walk test, are already used in several countries for brachycephalic dogs, although evidence supporting their use is still scarce. The aims of this study were to assess the daily welfare of young, breeding-age French Bulldogs (n = 44) and Pugs (n = 51) using an owner questionnaire, and to evaluate 6-min walk test (6MWT) and 1,000-m walk test usability for differentiation between non-or mildly BOAS-affected dogs and more severely affected dogs. Only four out of 95 French Bulldog and Pug owners reported that the BOAS signs limited the daily activities of their dogs. However, according to the physical, examination-based veterinary BOAS grading, 31/95 of the dogs had moderate to severe BOAS signs. In both breeds, the more severely affected dogs performed both exercise tests more poorly than those with no or mild BOAS signs. The longer exercise, namely the 1,000-m test, seemed slightly better able at differentiating between affected dogs and less affected ones. The results of this study further support the use of exercise tests as an important part of the breeding selection in French Bulldogs and Pugs. By influencing the breed standards set by Kennel Clubs and by using breeding selection tools, the harmful impacts of brachycephaly can be diminished.
  • Seilo, Noora; Paldanius, Susanna; Autio, Reija; Koskela, Tuomas; Kunttu, Kristina; Kaila, Minna (2022)
    Objectives The aim of this study was to explore how university students' participation in a two-staged health screening at the beginning of university studies associates with student health care utilisation in a 6-year follow-up. Design Nationwide, observational, register-based cohort study with a 6-year follow-up. Setting Student health care in Finland. Finnish Student Health Service (FSHS) provides statutory student health services to university students in Finland. The two-staged health screening of FSHS includes the electronic health questionnaire (eHQ) provided annually to university entrants and a subsequent health check, when necessary, based on students eHQ response. Participants A national cohort of university entrants from the 2011-2012 academic year (N=15 723) was assessed. After exclusions the study population consisted of 12 972 students, n (female)=7368, n (male)=5604. Outcome measures The primary outcome measures were students' health service utilisation pattern obtained by clustering analyses method and the students' participation in different stages of the health examination process. Results Four distinguishable health care utilisation patterns were identified: (1) constant low use, (2) constant high use, (3) increasing use and (4) decreasing use. The students' OR for belonging to the constant high use group was significantly higher among females (OR 4.0, 95% CI 3.5 to 4.6) and students who attended the health check (OR 4.7, 95% CI 3.9 to 5.6). Conclusions Participating in the two-staged health screening was associated with increase in health care utilisation. The process detects students with health problems.
  • Kämppi, Antti; Tanner, Tarja; Viitanen, Olavi; Pohjola, Vesa; Päkkilä, Jari; Tjäderhane, Leo; Anttonen, Vuokko; Patinen, Pertti (2022)
    The main aim of this cross-sectional study was to examine the prevalence of dental fear among Finnish conscripts. Other aims were to study the association between dental fear and cariological status as well as their self-reported, dentition-related well-being. The study material consisted of 13,564 men and 255 women conscripts who underwent oral examinations. Of those, 8713 responded to a computer-based questionnaire. The mean number of decayed teeth (DT) was used in analyses for cariological status. Self-reported dental fear, dentition-related well-being and regular check-ups were analysed. Data were analysed with cross tables, Pearson Chi-Square tests, Fisher's exact test and binary logistic regressive analysis. High dental fear or finding dental visits very scary was associated with DT > 2 both among women (14.6%, when DT = 0; 33.3%, when DT > 2) and men conscripts (2.3% and 10.8%, respectively). In addition, those reporting that dental health had a negative impact on their well-being and had no regular check-ups were more likely to need cariological treatment than the rest. A high education level, both one's own and parental, was a protective factor for restorative treatment need in male conscripts. The findings of this study support the concept of a vicious cycle of dental fear and dental caries. A preventive, interactive way of work by dental teams would most likely be beneficial for dental health, avoiding the development of dental fear, and dentition-related well-being.