| 1. |
- Clewemar, Pantelis, et al.
(författare)
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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
- 2019
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Ingår i: Molecular Genetics & Genomic Medicine. - : Wiley. - 2324-9269. ; 7:7
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundOsteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture.MethodsIn this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures.ResultsExome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation.ConclusionOssification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.
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| 2. |
- Hailer, Yasmin, 1972-, et al.
(författare)
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Is Legg-Calve-Perthes Disease a Local Manifestation of a Systemic Condition?
- 2018
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Ingår i: Clinical Orthopaedics and Related Research. - : Ovid Technologies (Wolters Kluwer Health). - 0009-921X .- 1528-1132. ; 476:5, s. 1055-1064
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Tidskriftsartikel (refereegranskat)abstract
- Background: Osteochondrosis includes numerous diseases that occur during rapid growth, characterized by disturbances of endochondral ossification. One example, Legg-Calvé-Perthes disease, is characterized by disruption of the blood supply to the femoral head epiphysis, and a systemic etiology often has been suggested. If this were the case, secondary osteochondroses at locations other than the hip might be expected to be more common among patients with Legg-Calvé-Perthes disease, but to our knowledge, this has not been evaluated in a nationwide sample.Questions/purposes: (1) Do patients with Legg-Calvé-Perthes disease have an increased prevalence of secondary osteochondroses at locations other than the hip? (2) Is the concept of Legg-Calvé-Perthes disease a systemic etiology supported by a higher prevalence of the metabolic diseases obesity and hypothyroidism?Methods: We designed a retrospective population-based cohort study with data derived from the Swedish Patient Registry (SPR). The SPR was established in 1964 and collects information on dates of hospital admission and discharge, registered diagnoses (categorized along the International Classification of Diseases [ICD]), and applied treatments during the entire lifetime of all Swedish citizens with high validity. Analyzing the time span from 1964 to 2011, we identified 3183 patients with an ICD code indicative of Legg-Calvé-Perthes disease and additionally sampled 10 control individuals per patient with Legg-Calvé-Perthes disease, matching for sex, age, and residence, resulting in 31,817 control individuals. The prevalence of secondary osteochondroses, obesity, and hypothyroidism was calculated separately for patients with Legg-Calvé-Perthes disease and control individuals based on the presence of ICD codes indicative of these conditions. Using logistic regression analysis, we compared the adjusted relative risk of having either of these conditions develop between patients with Legg-Calvé-Perthes disease and their matched control subjects. The mean followup was 26.1 years (range, 2.8-65 years).Results: The prevalence of secondary osteochondroses was greater among patients with Legg-Calvé-Perthes disease (3.11%) than among control subjects (0.31%), resulting in an increased adjusted risk of an association with such lesions in the patients (relative risk [RR], 10.3; 95% confidence interval [CI], 7.7-13.6; p < 0.001). When stratified by sex, we attained a similarly increased risk ratio for females (RR, 12.5; 95% CI, 6.1-25.8; p < 0.001) as for males (RR, 9.9; 95% CI, 7.3-13.5; p < 0.001). Patients with Legg-Calvé-Perthes disease had an increased adjusted risk of an association with obesity (RR, 2.8; 95% CI, 1.9-4.0; p < 0.001) or hypothyroidism (RR, 2.6; 95% CI, 1.7-3.8; p < 0.001) when compared with control subjects.Conclusions: To our knowledge, this is the first population-based description of a robust association of Legg-Calvé-Perthes disease with osteochondroses at locations other than the hip, and we also found increased risk estimates for an association with obesity and hypothyroidism in patients with Legg-Calvé-Perthes disease. Our findings strengthen the hypothesis that Legg-Calvé-Perthes disease is the local manifestation of a systemic disease, indicative of an underlying common disease pathway that requires further investigation. Physicians should be aware that patients with Legg-Calvé-Perthes disease may present with secondary osteochondroses and metabolic comorbidities.
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| 3. |
- Hailer, Yasmin, 1972-, et al.
(författare)
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Similar risk of cancer in patients younger than 55 years with or without a total hip arthroplasty (THA) : a population-based cohort study on 18,771 exposed to THA and 87,683 controls
- 2022
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Ingår i: Acta Orthopaedica. - : Medical Journals Sweden AB. - 1745-3674 .- 1745-3682. ; 93, s. 317-326
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose - Concerns related to a potentially increased risk of cancer after total hip arthroplasty (THA) have frequently surfaced, especially since the novel EU medical device regulation classified cobalt as carcinogenic. We assessed the risk of cancer after THA in a nationwide cohort of patients younger than 55 years at surgery.Patients and methods - In this population-based longitudinal cohort study, 18,771 individuals exposed to THA were identified in the Swedish Hip Arthroplasty Registry (SHAR) and compared with 87,683 unexposed individuals who were matched by age, sex, and residence. Diagnoses, socioeconomic background, and dates of death were obtained from the Swedish Cancer Register, the National Patient Register, and Statistics Sweden. Primary outcome was the adjusted risk of any cancer after the first THA; secondary outcomes were specific cancer forms.Results - We found no enhanced adjusted risk of developing any cancer, either in exposed females compared with unexposed females (hazard ratio [HR] 1.1, 95% confidence interval [CI] 0.95-1.2), or in exposed males (HR 1.1, CI 0.99-1.2). When analysing specific cancers, increased adjusted risks were found for thyroid and pancreas cancer in exposed females, and for cancer of the stomach, skin melanoma, and prostate cancer in exposed males.Interpretation - This study indicates that there is no statistically significant increased overall risk of cancer in young THA-exposed patients. The potentially slightly enhanced risk for specific cancers may be due to residual confounding resulting from risk factors not accounted for and merits further investigation.
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| 4. |
- Wadström, Miriam G, et al.
(författare)
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Demographics and risk for containment surgery in patients with unilateral Legg-Calvé-Perthes disease : a national population-based cohort study of 309 patients from the Swedish Pediatric Orthopedic Quality Register
- 2024
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Ingår i: Acta Orthopaedica. - : Medical Journals Sweden. - 1745-3674 .- 1745-3682. ; 95, s. 333-339
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose - It is controversial as to which patients affected by Legg-Calv & eacute;-Perthes disease (LCPD) benefit from containment surgery. This populationbased study based on data from a national quality registry aims to assess the incidence of LCPD and to explore which factors affect the decision for surgical intervention.Methods - This observational study involved 309 patients with unilateral LCPD reported between 2015 and 2023 to the Swedish Pediatric Orthopedic Quality Register (SPOQ). Descriptive statistics and logistic regression models were used for analysis.Results - In 2019, the assessed incidence of LCPD in the Swedish population of 2-12 -year -olds was 4.2 per 10 5 . 238 (77%) were boys with a mean age of 6 years. At diagnosis, 55 (30%) were overweight or obese, rising to 17 patients (39%) and 16 patients (40%) at 2 -year follow-up for surgically and non -surgically treated groups, respectively. At diagnosis, affected hips had reduced abduction compared with healthy hips, and their abduction remained restricted at the 2 -year follow-up. Surgically treated patients had inferior abduction compared with non -surgically treated ones at diagnosis. The adjusted risk for containment surgery increased with age and in the presence of a positive Trendelenburg sign but decreased with greater hip abduction.Conclusion - We found a lower national yearly incidence (4.2 per 10 5 ) than previously reported in Swedish studies. A higher proportion of overweight or obese patients compared with the general Swedish population of 4-9 -yearolds was identified. Increasing age, positive Trendelenburg sign, and limited hip abduction at diagnosis correlated with increased surgical intervention likelihood.
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| 5. |
- Wadström, Miriam G, et al.
(författare)
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No increased mortality after total hip arthroplasty in patients with a history of pediatric hip disease : a matched, population-based cohort study on 4,043 patients.
- 2021
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Ingår i: Acta Orthopaedica. - : Taylor & Francis. - 1745-3674 .- 1745-3682. ; 92:6, s. 673-677
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose - Patients with pediatric hip diseases are more comorbid than the general population and at risk of premature, secondary osteoarthritis, often leading to total hip arthroplasty (THA). We investigated whether THA confers an increased mortality in this cohort.Patients and methods - We identified 4,043 patients with a history of Legg-Calvé-Perthes disease (LCPD), slipped capital femoral epiphysis (SCFE), or developmental dysplasia of the hip (DDH) in the Swedish Hip Arthroplasty Register (SHAR) between 1992 and 2012. For each patient, we matched 5 controls from the general population for age, sex, and place of residence, and acquired information on all participants' socioeconomic background and comorbidities. Mortality after THA was estimated according to Kaplan-Meier, and Cox proportional hazard models were fitted to estimate adjusted hazard ratios (HRs) for the risk of death.Results - Compared with unexposed individuals, patients exposed to a THA due to pediatric hip disease had lower incomes, lower educational levels, and a higher degree of comorbidity but a statistically non-significant attenuation of 90-day mortality (HR 0.9; 95% CI 0.4-2.0) and a lower risk of overall mortality (HR 0.8; CI 0.7-0.9).Interpretation - Patients exposed to THA due to a history of pediatric hip disease have a slightly lower mortality than unexposed individuals. THA seems not to confer increased mortality risks, even in these specific patients with numerous risk factors.
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| 6. |
- El-Harbiti, Ahmad, et al.
(författare)
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Range of abduction in patients with Legg-Calvé-Perthes disease - a nationwide register-based cohort study.
- 2020
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 21:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Range of abduction often decreases during Legg-Calvé-Perthes Disease (LCPD) disease. However, a good range of abduction is required during the course of LCPD, especially when containment surgery should be performed. This study aimed to investigate how many patients registered in the Swedish Pediatric Orthopedic Quality register (SPOQ) with LCPD had reduced range of abduction at diagnosis in relation to sex or age at diagnosis or severity of disease (lateral pillar class at the time at diagnosis), if physiotherapy (PT) was prescribed and has a beneficial impact in maintaining (or increasing) abduction and if the range of abduction at diagnosis before fragmentation stage is predictive for the lateral pillar classification at fragmentation stage.METHODS: The national Swedish Pediatric Orthopedic Quality Register (SPOQ), established in 2015, is used to identify patients with LCPD. The patients are registered at three time points: at diagnosis, at potential surgery and 2 years after diagnosis. Range of abduction and information on PT are required to register at all registration sessions. One hundred ninety-nine hips from 192 children were registered in the SPOQ.RESULTS: Of all hips, the mean range of abduction at diagnosis was 39 degrees (range 0 to 90). One hundred twenty-six patients (63%) either received instructions for PT or were referred to a physiotherapist; two patients were treated additionally with an abduction brace. There was a trend that patients who received PT, compared to patients without PT, either maintained or increased their range of abduction at the 2-year follow-up. Older age at diagnosis correlated with decreased range of abduction at the 2-year follow-up (Estimate [Est]: - 3.1, 95% confidence interval [CI]: - 4.4 to - 1.7). The degree of abduction at diagnosis before fragmentation stage correlated with the lateral pillar group at the fragmentation stage (Est: -5.3, 95% CI: - 10.0 to - 1.1).CONCLUSION: In all, 63% of the children with LCPD in SPOQ received either written instructions or were referred to PT or both. PT seems to have a favorable impact for maintaining the range of abduction in children with LCPD. Children with a lower range of abduction at diagnosis (before the fragmentation stage) developed a higher degree of lateral pillar involvement as measured by the lateral pillar classification.
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| 7. |
- Engström, Zandra, et al.
(författare)
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Epidemiology of pediatric femur fractures in children : the Swedish Fracture Register
- 2020
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 21:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Although femur fractures in children are rare, they are the most common fractures in need of hospitalization. We sought to describe the epidemiology and treatment of pediatric femur fractures recorded in the Swedish Fracture Register (SFR). We also studied the relationship between femur fractures, age, sex, fracture pattern, injury mechanism, seasonal variation and treatment.METHODS: This nationwide observational register study was based on the pediatric part of the SFR. We included all patients < 16 years of age who were registered in the SFR from 2015 to 2018.RESULTS: Of the 709 femur fractures, 454 (64%) occurred in boys. Sixty-two of these fractures were proximal (9%), 453 shaft (64%) and 194 distal (27%). A bimodal age distribution peak was observed in boys aged 2-3 and 16-19 years. In contrast, the age distribution among girls was evenly distributed. Younger children were mainly injured by a fall, whereas older children sustained their fracture because of traffic accidents. Non-surgical treatment prevailed among younger children; however, prevalence of surgical treatment increased with age.CONCLUSIONS: We found a lower ratio between boys and girls (1.8:1) compared to earlier studies. The bimodal age distribution was seen only in boys. Falls were the most common injury in younger children, whereas traffic-related accidents were the most common in adolescents. With age, there was a corresponding increase in surgical treatment.
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| 8. |
- Gothefors, Matilda, et al.
(författare)
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Epidemiology and treatment of pediatric tibial fractures in Sweden : a nationwide population-based study on 5828 fractures from the Swedish Fracture Register
- 2023
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Ingår i: European Journal of Trauma and Emergency Surgery. - : Springer. - 1863-9933 .- 1863-9941. ; 49:2, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Pediatric tibial fractures have been described internationally as mainly caused by fall during leisure activities and organized sports and showing a higher incidence in boys. Still, most studies are single center studies or have a small sample size. This study aimed to analyze sex and age distribution, seasonal variation, injury mechanisms and treatment of pediatric tibial fractures based on the nationwide Swedish Fracture Register (SFR).METHODS: All tibial fractures in patients < 16 years at injury and registered in 2015-2019 were extracted from the SFR. We analyzed patient characteristics such as sex and age, injury mechanism, fracture location and treatment.RESULTS: The study cohort consisted of 5828 pediatric tibial fractures in 5719 patients. Median age of the patients was 7 years and 58% were boys. Shaft fractures were most common, followed by the distal and proximal tibia. The lowest incidence was observed during autumn. The most common cause of injury was fall mostly involving winter sports, stumbles and fall from play equipment. Play/free time and sports were the most common activities, common places of injury were sports facility and home. 1% were open fractures. 78% were treated non-surgically. Screw fixation was performed in 52% of surgically treated fractures, predominantly in the distal segment.CONCLUSION: Injury mechanism differs between age groups; play/free time injuries are common in younger children compared with sport activities in older children. Most patients are treated non-surgically. Open fractures are rare. Information on injury patterns is useful working preventively, for example safety work in playgrounds.
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| 9. |
- Hailer, Yasmin, 1972-, et al.
(författare)
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Agreement of radiographic measurements and patient-reported outcome in 61 patients with Legg-Calvé-Perthes disease at mean follow-up of 28 years
- 2019
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Ingår i: Journal of pediatric orthopedics. Part B. - 1060-152X .- 1473-5865. ; 28:2, s. 100-106
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Tidskriftsartikel (refereegranskat)abstract
- It is unclear how patient-reported outcome in patients with Legg-Calvé-Perthes disease (LCPD) is correlated with radiographic outcome. It was therefore the aim of our long-term follow-up to evaluate the agreement of patient-reported outcome measures (PROM) with radiographic outcome in patients with a history of unilateral LCPD and a femoral head involvement of more than 50%. We further investigated to what extent the functional outcome (range of motion and Trendelenburg sign) correlates with PROM and radiographic outcome. At a mean follow-up of 28 years (15-42), 61 patients were investigated clinically and by plain radiography to evaluate the sphericity deviation score, femoral head enlargement and femoral neck growth inhibition. The patients also completed questionnaires for generic measures of health-related quality-of-life (ED-5D, EQ-visual analogue scale), the joint-specific Harris hip score and the nonarthritic hip score questionnaire. The radiographic measures sphericity deviation score, femoral head enlargement and femoral neck growth inhibition were strongly correlated with the joint-specific PROMs (Harris hip score and nonarthritic hip score) but not with EQ-5D and EQ-visual analogue scale. Inferior range of flexion and abduction and a positive Trendelenburg sign were associated with an inferior patient-reported outcome. Our findings highlight the importance of supporting femoral head re-modelling and containment and balancing trochanteric and femoral neck growth in patients with LCPD. To capture the whole picture of the outcome after LCPD, future studies should include a combination of radiographic measurements and joint-specific and generic outcome scores. Level of Evidence: Level III.
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| 10. |
- Hailer, Yasmin D., 1972-, et al.
(författare)
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Epidemiology and patient-reported measurement outcome of pelvic fractures in children and adolescents : A population-based cohort study from the Swedish fracture register
- 2024
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Ingår i: Injury. - : Elsevier. - 0020-1383 .- 1879-0267. ; 55:8
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose:Pediatric pelvic fractures are uncommon, representing 0.2-3% of total pediatric fractures. The long-term patient-reported outcome in the pediatric population has not been evaluated yet. The purpose of the study was to describe the epidemiology of pelvic and acetabular fractures in pediatric patients including long-term patient-reported outcomes.Patients and methods:The Swedish Fracture Register (SFR) was used to identify all patients aged 6-17 years at injury with a pelvic fracture between 2015 and 2021. All patients were invited to answer Patient-Reported measurement instruments in 2021.Results:The study cohort consisted of 223 patients with a median age at fracture of 15 years and with 62 % boys. 201 sustained a pelvic and 22 acetabular fractures. Falls were the leading cause of fracture, followed by transport accidents. Most fractures (both pelvis and acetabulum) were type A (73 %), and 21 fractures (9 %) could not be classified according to AO. 85 % of fractures were treated non-surgically. All Type C fractures were treated surgically. Seven PROMIS (R) profile domains were completed by 31 % of the sample at a mean follow-up time of 3.5 years after pelvic/acetabular fracture. Most patients had "no concern" or "mild concern" but those who had surgery had an inferior t-score in most domains.Conclusion:Most fractures occurred in older individuals, with falls during sports activities being the most common cause. This raises important questions about prevention strategies. The PROMIS-Pain-Interference scale indicated that the younger the age at fracture, the more pain was reported at follow-up.
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