Browsing by Subject "FRACTURES"

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  • Sturesson, L.; Lindstrom, V.; Castren, M.; Niemi-Murola, L.; Falk, A. -C. (2016)
    Background: Pain is one of the most common symptoms in the Emergency Department (ED) and is the cause of more than half of the visits to the ED. Several attempts to improve pain management have been done by using, for example, standards/guidelines and education. To our knowledge no one has investigated if and how different actions over a longitudinal period affect the frequency of pain documentation in the ED. Therefore the aim of this study was to describe the frequency of documented pain assessments in the ED. Method: A cross-sectional study during 2006-2012 was conducted. The care of patients with wrist/arm fractures or soft tissue injuries on upper extremities was evaluated. Result: Despite various actions our result shows that mandatory pain assessment in the patient's computerized medical record was the only successful intervention to improve the frequencies of documentation of pain assessment during care in the ED. During the study period, no documentation of reassessment of pain was found despite the fact that all patients received pain medication. Conclusion: To succeed in increasing the frequency of documented pain assessment, mandatory pain rating is a successful action. However, the re-evaluation of documented pain assessment was nonexisting. (C) 2016 Elsevier Ltd. All rights reserved.
  • Mäkitie, Riikka E.; Hackl, Matthias; Niinimäki, Riitta; Kakko, Sakari; Grillari, Johannes; Mäkitie, Outi (2018)
    Context: WNT signaling is fundamental to bone health, and its aberrant activation leads to skeletal pathologies. The heterozygous missense mutation p.C218G in WNT1, a key WNT pathway ligand, leads to severe early-onset and progressive osteoporosis with multiple peripheral and spinal fractures. Despite the severe skeletal manifestations, conventional bone turnover markers are normal in mutation-positive patients. Objective: This study sought to explore the circulating microRNA (miRNA) pattern in patients with impaired WNT signaling. Design and Setting: A cross-sectional cohort study at a university hospital. Participants: Altogether, 12 mutation-positive (MP) subjects (median age, 39 years; range, 11 to 76 years) and 12 mutation-negative (MN) subjects (35 years; range, 9 to 59 years) from two Finnish families with WNT1 osteoporosis due to the heterozygous p.C218G WNT1 mutation. Methods and Main Outcome Measure: Serum samples were screened for 192 miRNAs using quantitative polymerase chain reaction. Findings were compared between WNT1 MP and MN subjects. Results: The pattern of circulating miRNAs was significantly different in the MP subjects compared with the MN subjects, with two upregulated (miR-18a-3p and miR-223-3p) and six downregulated miRNAs (miR-22-3p, miR-31-5p, miR-34a-5p, miR-143-5p, miR-423-5p, and miR-423-3p). Three of these (miR-22-3p, miR-34a-5p, and miR-31-5p) are known inhibitors of WNT signaling: miR-22-3p and miR-34a-5p target WNT1 messenger RNA, and miR-31-5p is predicted to bind to WNT1 3'UTR. Conclusions: The circulating miRNA pattern reflects WNT1 mutation status. The findings suggest that the WNT1 mutation disrupts feedback regulation between these miRNAs and WNT1, providing insights into the pathogenesis of WNT-related bone disorders. These miRNAs may have potential in the diagnosis and treatment of osteoporosis.
  • Kouvonen, A.; Vahtera, J.; Pentti, J.; Korhonen, M. J.; Oksanen, T.; Salo, P.; Virtanen, M.; Kivimaki, M. (2016)
    Background. Adverse effects of antidepressants are most common at the beginning of the treatment, but possible also later. We examined the association between antidepressant use and work-related injuries taking into account the duration of antidepressant use. Method. Antidepressant use and work-related injuries between 2000 and 2011 were measured among 66 238 employees (mean age 43.8 years, 80% female) using linkage to national records (the Finnish Public Sector study). We analysed data using time-dependent modelling with individuals as their own controls (self-controlled case-series design). Results. In 2238 individuals who had used antidepressants and had a work-related injury during a mean follow-up of 7.8 years, no increase in the risk of injury was observed in the beginning of antidepressant treatment. However, an increased injury risk was seen after 3 months of treatment (rate ratio, compared with no recent antidepressant use, 1.27, 95% confidence interval 1.10-1.48). This was also the case among those who had used only selective serotonin re-uptake inhibitors (n = 714; rate ratio 1.41, 95% confidence interval 1.08-1.83). Conclusions. Antidepressant use was not associated with an increased risk of work-related injury at the beginning of treatment. Post-hoc analyses of antidepressant trials are needed to determine whether long-term use of antidepressants increases the risk of work-related injury.
  • Keronen, Satu; Martola, Leena; Finne, Patrik; Burton, Inari S.; Kröger, Heikki; Honkanen, Eero (2019)
    Background and objectives Over the past decade, the management of CKD-mineral and bone disorder has changed substantially, altering the pattern of bone disease in CKD. We aimed to evaluate the natural history of kidney bone disease in contemporary kidney transplant recipients and patients on dialysis. Design, settings, participants, & measurements Sixty one patients on dialysis who were referred to kidney transplantation participated in this prospective cohort study during November 2009 and December 2010. We performedbaseline bone biopsieswhile thepatientswere ondialysis andrepeatedthe procedure in 56 patients at 2 years after kidney transplantation or 2 years after baseline if transplantationwas not performed. Measurements of mineral metabolism and bone turnover, as well as dual energy x-ray absorptiometry scans, were obtained concurrently. Results A total of 37 out of 56 participants received a kidney transplant, of which 27 underwent successful repeat bone biopsy. The proportion of patients with high bone turnover declined from 63% at baseline to 19% at 2 years after kidney transplantation, whereas the proportion of thosewith lowbone turnover increased from26% to 52%. Of 19 participants remaining on dialysis after 2 years, 13 underwent successful repeat biopsy. The proportion of patients remaining on dialysis with high bone turnover decreased from 69% to 31%, and low bone turnover increased from8% to 38%. Abnormal bonemineralization increased in transplant recipients from33% to 44%, but decreased in patients remaining on dialysis from 46% to 15%. Trabecular bone volume showed little change after transplantation, but low bone volume increased in patients remaining on dialysis. Bone mineral density did not correlate with histomorphometric findings. Conclusions Bone turnover decreased over time both in patients remaining on dialysis and in kidney transplant recipients. Bone mineral density and bone biomarkers were not associated with bone metabolism changes detected in bone biopsy specimens.
  • Voutilainen, Mikko; Miettinen, Arttu; Sardini, Paul; Parkkonen, Joni; Sammaljärvi, Juuso; Gylling, Björn; Selroos, Jan-Olof; Yli-Kaila, Maarit; Koskinen, Lasse; Siitari-Kauppi, Marja (2019)
    The spatial porosity and mineral distribution of geological materials strongly affects transport processes in them. X-ray micro computed tomography (X-mu CT) has proven to be a powerful tool for characterizing the spatial mineral distribution of geological samples in 3-D. However, limitations in resolution prevent an accurate characterization of pore space especially for tight crystalline rock samples and 2-D methods such as C-14-polymethylmethacrylate (C-14-PMMA) autoradiography and scanning electron microscopy (SEM) are needed. The spatial porosity and mineral distributions of tight crystalline rock samples from Aspo, Sweden, and Olkiluoto, Finland, were studied here. The X-mu CT were used to characterize the spatial distribution of the main minerals in 3-D. Total porosities, fracture porosities, fracture densities and porosity distributions of the samples were determined using the C-14-PMMA autoradiography and characterization of mineral-specific porosities were assisted using chemical staining of rock surfaces. SEM and energy dispersive X-ray spectroscopy (EDS) were used to determine pore apertures and identify the minerals. It was shown that combination of the different imaging techniques creates a powerful tool for the structural characterization of crystalline rock samples. The combination of the results from different methods allowed the construction of spatial porosity, mineral and mineral grain distributions of the samples in 3-D. These spatial distributions enable reactive transport modeling using a more realistic representation of the heterogeneous structure of samples. Furthermore, the realism of the spatial distributions were increased by determinig the densities and porosities of fractures and by the virtual construction heterogeneous mineral distributions of minerals that cannot be separated by X-mu CT.
  • Sormaala, Markus J.; Ruohola, Juha-Petri; Mattila, Ville M.; Koskinen, Seppo Kalervo; Pihlajamaki, Harri K. (2011)
  • Erkman, Ahmet Cem; Basoglu, Oksan; Basibuyuk, Gulusan Ozgun; Kirmizioglu, Pinar Gozluk; Yigit, Ayhan; Yalcin, Yarenkur Alkan; Kaya, Ferhat (2016)
    The excavations conducted at Van Castle Mound, East Anatolia, between 1987 and 2010 uncovered a total of 328 human skeletons dating back to the Medieval period. Thirty trauma cases were identified within the collection, constituting 9.14% of the entire population. Typology and distribution of the trauma among different sexes indicated that depression fractures, oblique fractures, comminuted fractures, and head deformation were more frequently observed in male skeletons, while a post-fractural infection appeared only in a female skeleton. Trauma cases were more common on post-cranial bones. In addition, a trepanned cranial specimen belonging to a mature individual is identified in which grooving technique was performed. Most of the observed trauma cases were related to heavy labor, unsafe working conditions, and challenges of everyday agrarian life. Previous paleopathological studies from the Medieval Van Castle Mound also indicates an insufficient nutritation and high physical stress.
  • Launonen, Antti P.; Huttunen, Tuomas T.; Lepola, Vesa; Niemi, Seppo T.; Kannus, Pekka; Felländer-Tsai, Li; Berg, Hans E.; Laitinen, Minna K.; Mattila, Ville M. (2020)
    Purpose Distal biceps tendon rupture is a relatively rare injury usually occurring with excess external extension force applied to a flexed elbow. The aim of this study was to examine the incidence of distal biceps tendon rupture surgery in the Finnish and Swedish adult population between the years 1997 and 2016. A secondary aim was to investigate the distal biceps rupture incidence in the Swedish population in 2001 to 2016. Methods We assessed the number and rate of distal biceps tendon rupture surgery using the Finnish and Swedish Hospital Discharge Register as databases. The study included the entire Finnish and Swedish adult population aged 18 years and older between January 1, 1997 and of December 31, 2016. Results During the study period, 2,029 patients had a distal biceps tendon rupture in Finland, and the corresponding figure was 2,000 in Sweden. The rate of distal biceps tendon rupture surgery increased steeply, but equally, in both countries, in Finnish men from 1.3 per 100,000 person-years in 1997 to 9.6 in 2016, and in Swedish men from 0.2 in 1997 to 5.6 in 2016. The incidence of distal biceps tendon rupture in Sweden increased in men from 1.6 to 10.0 per 100,000 person-years from 2001 to 2016. Conclusions There was a 7-fold and a 28-fold increase in the incidence of distal biceps tendon rupture surgery in Finnish and Swedish men during 1997 to 2016. The incidence of distal biceps tendon rupture rose 6-fold in Swedish men in 2001 to 2016. Copyright (C) 2020 by the American Society for Surgery of the Hand. Published by Elsevier Inc.
  • RODEO Collab Grp; Sanders, Fay R. K.; Birnie, Merel F.; Dingemans, Siem A.; van den Bekerom, Michel P. J.; Parkkinen, Markus; van Veen, Ruben N.; Goslings, J. Carel; Schepers, Tim (2021)
    Aims The aim of this study was to investigate whether on-demand removal (ODR) is noninferior to routine removal (RR) of syndesmotic screws regarding functional outcome. Methods Adult patients (aged above 17 years) with traumatic syndesmotic injury, surgically treated within 14 days of trauma using one or two syndesmotic screws, were eligible (n = 490) for inclusion in this randomized controlled noninferiority trial. A total of 197 patients were randomized for either ODR (retaining the syndesmotic screw unless there were complaints warranting removal) or RR (screw removed at eight to 12 weeks after syndesmotic fixa- tion), of whom 152 completed the study. The primary outcome was functional outcome at 12 months after screw placement, measured by the Olerud-Molander Ankle Score (OMAS). Results There were 152 patients included in final analysis (RR = 73; ODR = 79). Of these, 59.2% were male (n = 90), and the mean age was 46.9 years (SD 14.6). Median OMAS at 12 months after syndesmotic fixation was 85 (interquartile range (IQR) 60 to 95) for RR and 80 (IQR 65 to 100) for ODR. The noninferiority test indicated that the observed effect size was significantly within the equivalent bounds of-10 and 10 scale points (p < 0.001) for both the intention to treat and per-protocol, meaning that ODR was not inferior to RR. There were significantly more complications in the RR group (12/73) than in the ODR group (1/79) (p = 0.007). Conclusion ODR of the syndesmotic screw is not inferior to routine removal when it comes to functional outcome. Combined with the high complication rate of screw removal, this offers a strong argument to adopt on demand removal as standard practice of care after syndesmotic screw fixation.
  • Miettinen, S. S. A.; Mäkinen, T. J.; Mäkelä, K.; Huhtala, H.; Kettunen, J. S.; Remes, V. (2018)
    Background and Aims: Large-diameter head total hip arthroplasty and hip resurfacing arthroplasty were popular in Finland from 2000 to 2012 for the treatment of hip osteoarthritis. The aim of this retrospective study was to investigate the mid-term survival of large-diameter head total hip arthroplasty patients operated on in three university hospitals and to compare these results to the survival of hip resurfacing arthroplasty patients. Material and Methods: A total of 3860 hip arthroplasties (3029 large-diameter head total hip arthroplasties in 2734 patients and 831 hip resurfacing arthroplasties in 757 patients) were operated on between January 2004 and December 2009. The mean follow-up was 4.3years (range: 0.3-8.0years) in the total hip arthroplasty group and 5.1years (range: 1.7-7.9years) in the hip resurfacing arthroplasty group. Cox multiple regression model and Kaplan-Meier survival analysis were used to study the survival of the total hip arthroplasties and the hip resurfacing arthroplasties. Intraoperative complications and reasons for revisions were also evaluated. Results: In Cox regression analysis, the hazard ratio for revision of hip resurfacing arthroplasty was 1.5 compared with large-diameter head total hip arthroplasty (95% confidence interval: 1.0-2.2) (p=0.029). The cumulative Kaplan-Meier survival rate was 90.7% at 7.7years for the large-diameter head total hip arthroplasty (95% confidence interval: 86.8-94.6) and 92.2% at 7.6years for hip resurfacing arthroplasty (95% confidence interval: 89.9-94.6). There were a total of 166/3029 (5.5%) intraoperative complications in the large-diameter head total hip arthroplasty group and 20/831 (2.4%) in the hip resurfacing arthroplasty group (p=0.001). Revision for any reason was performed on 137/3029 (4.5%) of the arthroplasties in the large-diameter head total hip arthroplasty group and 52/831 (6.3%) in the hip resurfacing arthroplasty group (p=0.04). Conclusion: The mid-term survival of both of these devices was poor, and revisions due to adverse reactions to metal debris will most likely rise at longer follow-up. There were more intraoperative complications in the large-diameter head total hip arthroplasty group than in the hip resurfacing arthroplasty group.
  • Jussila, Miro-Pekka; Remes, Tiina; Anttonen, Julia; Harila-Saari, Arja; Niinimäki, Jaakko; Pokka, Tytti; Koskenkorva, Päivi; Sutela, Anna; Toiviainen-Salo, Sanna; Arikoski, Pekka; Riikonen, Pekka; Arola, Mikko; Lähteenmäki, Päivi; Sirkiä, Kirsti; Rantala, Heikki; Suo-Palosaari, Maria; Ojaniemi, Marja (2018)
    Purpose Long-term side effects of the treatments are common in survivors of irradiated pediatric brain tumors. Ionizing radiation in combination with surgery and chemotherapy during childhood may reduce vertebral height and bone mineral density (BMD), and cause growth failure. The aim of this study was to evaluate the late consequences of tumor treatments on vertebrae in survivors of childhood brain tumors. Methods 72 adult survivors (mean age 27.8 years, standard deviation 6.7) of irradiated childhood brain tumor were studied by spinal magnetic resonance imaging (MRI) for vertebral abnormalities from the national cohort of Finland. Patients were treated in five university hospitals in Finland between the years 1970 and 2008. Subject height and weight were measured and body mass index (BMI) was calculated. The morphology and height/ depth ratio of the vertebrae in the middle of the kyphotic thoracic curvature (Th8) and lumbar lordosis (L3) were examined. Vertebrae were analyzed by Genant's semiquantative (SQ) method and spinal deformity index (SDI) was calculated. BMD was measured by using dual X-ray absorptiometry. Results 4.2% (3/72) of the patients had undiagnosed asymptomatic vertebral fracture and 5.6% (4/72) of patients had radiation- induced decreased vertebral body height. Male patients had flatter vertebrae compared with females. Patient age at the time of irradiation, BMI and irradiation area correlated to vertebral morphology differentially in males and females. BMD had no association with the vertebral shape. Patients who had received craniospinal irradiation were shorter than the general population. Conclusion Childhood brain tumor survivors had a high number of vertebral abnormalities in young adulthood. Irradiation was associated with abnormal vertebral morphology and compromised final height. Male gender may predispose vertebrae to the side effects of irradiation.
  • Ervasti, Jenni; Pentti, Jaana; Nyberg, Solja T.; Shipley, Martin J.; Leineweber, Constanze; Sorensen, Jeppe K.; Alfredsson, Lars; Bjorner, Jakob B.; Borritz, Marianne; Burr, Hermann; Knutsson, Anders; Madsen, Ida E. H.; Hanson, Linda L. Magnusson; Oksanen, Tuula; Pejtersen, Jan H.; Rugulies, Reiner; Suominen, Sakari; Theorell, Tores; Westerlund, Hugo; Vahtera, Jussi; Virtanen, Marianna; Batty, G. David; Kivimäki, Mika (2021)
    Background: Studies on the association between long working hours and health have captured only a narrow range of outcomes (mainly cardiometabolic diseases and depression) and no outcome-wide studies on this topic are available. To achieve wider scope of potential harm, we examined long working hours as a risk factor for a wide range of disease and mortality endpoints. Methods: The data of this multicohort study were from two population cohorts from Finland (primary analysis, n=59 599) and nine cohorts (replication analysis, n=44 262) from Sweden, Denmark, and the UK, all part of the Individual-participant Meta-analysis in Working Populations (IPD-Work) consortium. Baseline assessed long working hours (>55 hours per week) were compared to standard working hours (35-40 h). Outcome measures with follow-up until age 65 years were 46 diseases that required hospital treatment or continuous pharmacotherapy, all-cause, and three cause-specific mortality endpoints, ascertained via linkage to national health and mortality registers. Findings: 2747 (4.6%) participants in the primary cohorts and 3027 (6.8%) in the replication cohorts worked long hours. After adjustment for age, sex, and socioeconomic status, working long hours was associated with increased risk of cardiovascular death (hazard ratio 1.68; 95% confidence interval 1.08-2.61 in primary analysis and 1.52; 0.90-2.58 in replication analysis), infections (1.37; 1.13-1.67 and 1.45; 1.13-1.87), diabetes (1.18; 1.01-1.38 and 1.41; 0.98-2.02), injuries (1.22; 1.00-1.50 and 1.18; 0.98-1.18) and musculoskeletal disorders (1.15; 1.06-1.26 and 1.13; 1.00-1.27). Working long hours was not associated with all-cause mortality. Interpretation: Follow-up of 50 health outcomes in four European countries suggests that working long hours is associated with an elevated risk of early cardiovascular death and hospital-treated infections before age 65. Associations, albeit weak, were also observed with diabetes, musculoskeletal disorders and injuries. In these data working long hours was not related to elevated overall mortality. (C) 2021 The Authors. Published by Elsevier Ltd.
  • Luiro, Kaisu; Aittomäki, Kristiina; Jousilahti, Pekka; Tapanainen, Juha S. (2019)
    Objective: To study the use of hormone therapy (HT), morbidity and reproductive outcomes of women with primary ovarian insufficiency (POI) due to FSH-resistant ovaries (FSHRO). Design: A prospective follow-up study in a university-based tertiary clinic setting. Methods: Twenty-six women with an inactivating A189V FSH receptor mutation were investigated by means of a health questionnaire and clinical examination. Twenty-two returned the health questionnaire and 14 were clinically examined. Main outcome measures in the health questionnaire were reported as HT, morbidity, medication and infertility treatment outcomes. In the clinical study, risk factors for cardiovascular disease (CVD) and metabolic syndrome (MetS) were compared to age-matched controls from a national population survey (FINRISK). Average number of controls was 326 per FSHRO subject (range 178-430). Bone mineral density and whole-body composition were analyzed with DXA. Psychological and sexual well-being was assessed with Beck Depression Inventory (BDI21), Generalized Anxiety Disorder 7 (GAD-7) and Female Sexual Function Index (FSFI) questionnaires. Results: HT was initiated late (median 18 years of age) compared with normal puberty and the median time of use was shorter (20-22 years) than the normal fertile period. Osteopenia was detected in 9/14 of the FSHRO women despite HT. No major risk factors for CVD or diabetes were found. Conclusions: HT of 20 years seems to be associated with a similar cardiovascular and metabolic risk factor profile as in the population control group. However, optimal bone health may require an early-onset and longer period of HT, which would better correspond to the natural fertile period.
  • Stenholm, Sari; Ferrucci, Luigi; Vahtera, Jussi; Hoogendijk, Emiel O.; Huisman, Martijn; Pentti, Jaana; Lindbohm, Joni V.; Bandinelli, Stefania; Guralnik, Jack M.; Kivimäki, Mika (2019)
    Background: Frailty is an important geriatric syndrome, but little is known about its development in the years preceding onset of the syndrome. The aim of this study was to examine the progression of frailty and compare the trajectories of each frailty component prior to frailty onset. Methods: Repeat data were from two cohort studies: the Longitudinal Aging Study Amsterdam (n = 1440) with a 15-year follow-up and the InCHIANTI Study (n = 998) with a 9-year follow-up. Participants were classified as frail if they had > 3 frailty components (exhaustion, slowness, physical inactivity, weakness, and weight loss). Transitions between frailty components were examined with multistate modeling. Trajectories of frailty components were compared among persons who subsequently developed frailty to matched nonfrail persons by using mixed effects models. Results: The probabilities were 0.43, 0.40, and 0.36 for transitioning from 0 to 1 frailty component, from 1 component to 2 components, and from 2 components to 3-5 components (the frail state). The transition probability from frail to death was 0.13. Exhaustion separated frail and nonfrail groups already 9 years prior to onset of frailty (pooled risk ratio [RR] = 1.53, 95% confidence interval [CI] 1.04-2.24). Slowness (RR = 1.94, 95% CI 1.44-2.61), low activity (RR = 1.59, 95% CI 1.19-2.13), and weakness (RR = 1.39, 95% CI 1.10-1.76) separated frail and nonfrail groups 6 years prior to onset of frailty. The fifth frailty component, weight loss, separated frail and nonfrail groups only at the onset of frailty (RR = 3.36, 95% CI 2.76-4.08). Conclusions: Evidence from two cohort studies suggests that feelings of exhaustion tend to emerge early and weight loss near the onset of frailty syndrome.
  • Kämpe, A. J.; Costantini, A.; Makitie, R. E.; Jäntti, N.; Valta, H.; Mäyränpää, M.; Kröger, H.; Pekkinen, M.; Taylan, F.; Jiao, H.; Mäkitie, O. (2017)
    The Summary Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. Introduction The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features. Methods Two cohorts of children with bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Cohort I comprised 31 patients with childhood-onset primary osteoporosis of unknown etiology. Cohort II comprised 64 children who had sustained multiple fractures but were otherwise healthy. Clinical and radiological data were reviewed. Peripheral blood DNA was Sanger sequenced for coding exons and flanking intronic regions of PLS3. Results In two patients of cohort I, where other common genetic causes had been excluded, we identified two novel disease-causing PLS3 variants. Patient 1 was a male with bilateral femoral fractures at 10 years, low BMD (Z-score -4.1; 18 years), and multiple vertebral compression fractures. He had a novel nonsense variant in PLS3. Patient 2 was a girl with multiple long bone and vertebral fractures and low BMD (Z-score -6.6 at 6 years). She had a de novo missense variant in PLS3; whole exome sequencing and array-CGH identified no other genetic causes. Iliac crest bone biopsies confirmed low-turnover osteoporosis in both patients. In cohort II, no pathogenic PLS3 variants were identified in any of the subjects. Conclusion Two novel disease-causing variants in PLS3 were identified in a boy and a girl with multiple peripheral and spinal fractures and very low BMD while no pathogenic variants were identified in children with less severe skeletal fragility. PLS3 screening is warranted in male and female patients with childhood-onset primary osteoporosis.
  • Galambosi, Päivi; Hiilesmaa, Vilho; Ulander, Veli-Matti; Laitinen, Leena; Tiitinen, Aila; Kaaja, Risto (2016)
    Introduction: In contrast to unfractionated heparin (UFH), use of low-molecular weight heparin (LMWH) during pregnancy has not been reported to be associated with a significant decrease in bone mineral density (BMD). The aim of this study was to investigate whether long-term use of LMWH during pregnancy is associated with subsequent decrease in BMD or with increased number of osteoporotic fractures. Materials and methods: In this observational cohort study BMD was measured by dual energy X-ray absorptiometry (DEXA) 4-7 years after the last delivery in 152 women. Ninety-two women had prolonged LMWH-exposure during pregnancy - 75 as prophylaxis and 17 as treatment for venous thromboembolic event (VTE). Dalteparin and enoxaparin were the LMWH-preparations used. Sixty women without LMWH-exposure served as controls. A questionnaire about lifestyle factors and medical history was filled out by the subjects. Results: Lumbar spine BMD in the LMWH users was lower than that in the controls both in the prophylactic group (1.22 g/cm(2) vs. 1.27 g/cm(2); p=0.03), and in the treatment group (1.20 g/cm(2) vs. 1.27 g/cm(2); p= 0.07). BMD in femoral neck did not differ between the LMWH-users and controls. However, after adjusting for potential confounding factors, LMWH-exposure did not remain associated with decreased BMD in lumbar spine. Use of contraceptive pills was positively associated with BMD in lumbar spine. Incidence of osteopenia was 13% in the LMWH-group and 8% in the control-group, (p= 0.4). No osteoporosis or osteoporotic fractures were found. Conclusions: Prolonged use of LMWH during pregnancy was not associated with subsequent decrease in BMD, osteopenia, osteoporosis, or osteoporotic fractures. (C) 2016 Elsevier Ltd. All rights reserved.
  • Stoor, Patricia; Suomalainen, Anni; Mesimäki, Karri; Kontio, Risto (2017)
    Large tumours of the mandible need immediate reconstruction to provide continuity of the mandible, satisfactory function of the jaw, as well as an acceptable aesthetic outcome. In this prospective study we described the immediate reconstruction of the mandible using computer aided design and 15 rapid prototyped patient specific implants (PSI) in 14 patients suffering from benign or malignant tumours demanding continuity resection of the mandible. The scaffold PSI was filled with beta-tricalcium phosphate granules and autologous bone. Microvascular reconstruction was additionally needed in 12/15 cases. The clinical follow up was on average 33 months and the radiological follow up was on average 21 months. In nine cases the healing was uneventful. One patient lost the microvascular flap during the first postoperative week and one patient needed a revision due to perforation of the mucosa at the site of the PSI. Four patients had a major complication due to perforation of the mucosa leading to infection, which resulted in the total or partial removal of the PSI. The PSI seems to be a promising solution for treatment of patients demanding large reconstruction after mandible resection. The benefits are decreased rate of donor site complications and more accurate and prompt surgical procedure. (C) 2016 Published by Elsevier Ltd on behalf of European Association for Cranio-Maxillo-Facial Surgery.
  • Määttänen, Laura; Ripatti, Liisa; Rautava, Päivi; Koivisto, Mari; Haataja, Leena (2020)
    Aim To study whether cerebral palsy (CP) increases the risk of hospital-treated injuries in children up to 13 years of age. Methods A Finnish population-based cohort (n=328 903) of children born during 2001 to 2006 was followed up for hospital-treated injuries until the end of 2014 via linkage of nation-wide registers. The rate of first injury was compared in children with and without CP. The effect of CP type, gender, severe comorbidities (intellectual disability, epilepsy, hearing or visual impairment), and the type of injury was evaluated. Results Children with CP had an increased risk of injury compared with children without CP (unadjusted HR: 1.2, 95% CI: 1.0 - 1.4, p=0.40). Girls with CP (n=191) had a higher risk of injury compared with girls without CP (29% vs 22%, HR: 1.4, 95% CI: 1.1 to 1.8, p = 0.01). Any comorbidity increased the risk of injury (HR: 1.5, 95% CI: 1.1 to 2.2, p = 0.015) among children with CP. Children with CP had a higher risk of traumatic brain injury (HR: 1.7, 95% CI 1.2 to 2.4, p = 0.002) than children without CP. Conclusion Girls with CP had the highest risk of hospital-treated injury. Children with CP are particularly prone to traumatic brain injuries.
  • Paldanius, Päivi M.; Ivaska, Kaisa K.; Mäkitie, Outi; Viljakainen, Heli (2021)
    Children and adolescents have high bone turnover marker (BTM) levels due to high growth velocity and rapid bone turnover. Pediatric normative values for BTMs reflecting bone formation and resorption are vital for timely assessment of healthy bone turnover, investigating skeletal diseases, or monitoring treatment outcomes. Optimally, clinically feasible measurement protocols for BTMs would be validated and measurable in both urine and serum. We aimed to (a) establish sex- and age-specific reference intervals for urinary and serum total and carboxylated osteocalcin (OC) in 7- to 19-year-old healthy Finnish children and adolescents (n = 172), (b) validate these against standardized serum and urinary BTMs, and (c) assess the impact of anthropometry, pubertal status, and body composition on the OC values. All OC values in addition to other BTMs increased with puberty and correlated with pubertal growth, which occurred and declined earlier in girls than in boys. The mean serum total and carboxylated OC and urinary OC values and percentiles for sex-specific age categories and pubertal stages were established. Correlation between serum and urinary OC was weak, especially in younger boys, but improved with increasing age. The independent determinants for OC varied, the urinary OC being the most robust while age, height, weight, and plasma parathyroid hormone (PTH) influenced serum total and carboxylated OC values. Body composition parameters had no influence on any of the OC values. In children and adolescents, circulating and urinary OC reflect more accurately growth status than bone mineral density (BMD) or body composition. Thus, validity of OC, similar to other BTMs, as a single marker of bone turnover, remains limited. Yet, serum and urinary OC similarly to other BTMs provide a valuable supplementary tool when assessing longitudinal changes in bone health with repeat measurements, in combination with other clinically relevant parameters.
  • Laakso, Saila; Borchers, Joonatan; Toiviainen-Salo, Sanna; Pekkinen, Minna; Mäkitie, Outi (2020)
    Objective: Immunological abnormalities, the resulting endocrinopathies and their treatments may impact bone health in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS1). The aim of the present study was to describe skeletal characteristics in patients with APECED and the prevalence and risk factors of compromised bone health. Patients and methods: We performed a cross-sectional study on 44 patients (27 females) with APECED and 82 age-, gender- and ethnicity-matched control subjects (54 females). We determined the prevalence of osteoporosis by dual-energy X-ray absorptiometry and skeletal characteristics by peripheral quantitative computed tomography at radius and tibia. Results: Patients were examined at the median age of 37.8 years (range, 7.0-70.1). Dual-energy X-ray absorptiometry indicated osteoporosis in four adult patients (9%); radiographs showed vertebral fractures in three patients. The prevalence of multiple non-spinal fractures was higher in patients than in controls. On peripheral quantitative computed tomography, bone characteristics at distal and proximal radius did not differ between the groups. At distal tibia, patients had lower total (p = 0.009) and trabecular (p = 0.033) volumetric bone mineral density. At the proximal tibia, patients had lower cortical thickness (p <0.001) than controls. Severity of APECED phenotype influenced both radial and tibial characteristics: cortical thickness and total and trabecular volumetric bone mineral density were lower in patients with >= 7 disease manifestations as compared with more mildly affected patients, whose values were similar to controls. Conclusions: APECED associated with bone structural alterations, especially in patients with a high number of disease manifestations. This may increase the risk of fractures with aging, but symptomatic osteoporosis was rare.