| 1. |
- Kotronen, Anna, et al.
(author)
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Genetic variation in the ADIPOR2 gene is associated with liver fat content and its surrogate markers in three independent cohorts
- 2009
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In: European Journal of Endocrinology. - 1479-683X. ; 160:4, s. 593-602
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Journal article (peer-reviewed)abstract
- Aims: We investigated whether polymorph isms in candidate genes involved in lipid metabolism and type 2 diabetes are related to liver I, at content. Methods: Liver fat content was measured using proton magnetic resonance spectroscopy (H-1-MRS) in 302 Finns, in whom single nucleotide polymorphisms (SNPs) in acyl-CoA synthetase long-chain family member 4 (ACSL4). acliponectin receptors 1 and 2 (ADIPOR1 and ADIPOR2), and the three peroxisome proliferator-activated receptors (PPARA, PPARD, and PPARG) were analyzed. To validate our findings, SNPs significantly associated with liver fat content were Studied in two independent cohorts and related to surrogate markers of liver fat content. Results: In the Finnish subjects, polymorphisms in ACSL4 (rs7887981), ADIPOR2 (rs767870), and PPARG (rs3856806) were significantly associated with liver fat content measured with H-1-MRS after adjusting for age, gender, and BMI, Anthropometric and circulating parameters were comparable between genotypes. In the first validation cohort of similar to 600 Swedish men, ACSL4 rs7887981 was related to fasting insulin and triglyceride concentrations, and ADIPOR2 rs767870 to serum gamma glutamyltransfer concentrations after adjusting for BMI. The SNP in PPARG (rs3856806) was not significantly associated with any relevant metabolic parameter in this cohort. In the second validation cohort of similar to 3000 subjects from Western Finland, ADIPOR2 rs767870, but not ACSL4 rs7887981 was related to fasting triglyceride concentrations. Conclusions: Genetic variation, particularly in the ADIPOR2 gene, contributes to variation in hepatic fat accumulation in humans.
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| 2. |
- Abrahamson, Josefin, et al.
(author)
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Adolescent elite skiers with and without cam morphology did change their hip joint range of motion with 2 years follow-up
- 2019
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In: Knee Surgery, Sports Traumatology, Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 27:10, s. 3149-3157
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Journal article (peer-reviewed)abstract
- Purpose: To investigate how range of motion of the hips and the lumbar spine are affected by continued elite, alpine skiing in young subjects, with and without a magnetic resonance imaging verified cam morphology, in a 2-year follow-up study. The hypothesis is that skiers with cam morphology will show a decrease in hip joint range of motion as compared with skiers without cam, after a 2-year follow-up. Method: Thirty adolescent elite alpine skiers were examined at the baseline (mean age 17.3 ± 0.7 years) and after 2 years. All skiers were examined for the presence of cam morphology (α-angle > 55°) using magnetic resonance imaging at the baseline. Clinical examinations of range of motion in standing lumbar flexion and extension, supine hip flexion, internal rotation, FABER test and sitting internal rotation and external rotation were performed both at the baseline and after 2 years. Results: Skiers with and without cam morphology showed a significant decrease from baseline to follow-up in both hips for supine internal rotation (right: mean − 13.3° and − 10.9° [P < 0.001]; left: mean − 7.6° [P = 0.004] and − 7.9° [P = 0.02]), sitting internal rotation (right: mean − 9.6° and − 6.3° [P < 0.001]; left: mean − 7.6° [P = 0.02] and − 3.3° [P = 0.008]) and sitting external rotation (right: mean − 16.9° and − 11.4° and left: mean − 17.9° and − 14.5° [P < 0.001]) and were shown to have an increased left hip flexion (mean + 8.4° and + 4.6° [P = 0.004]). Skiers with cam were also shown to have an increased right hip flexion (mean + 6.4° [P = 0.037]). Differences were found between cam and no-cam skiers from baseline to follow-up in the sitting internal rotation in both hips (right: mean 3.25°, left: mean 4.27° [P < 0.001]), the right hip flexion (mean 6.02° [P = 0.045]) and lumbar flexion (mean − 1.21°, [P = 0.009]). Conclusion: Young, elite alpine skiers with cam morphology decreased their internal rotation in sitting position as compared with skiers without the cam morphology after 2 years of continued elite skiing. Level of evidence: II.
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| 3. |
- Abrahamson, Josefin, et al.
(author)
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Hip pain and its correlation with cam morphology in young skiers-a minimum of 5 years follow-up
- 2020
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In: Journal of Orthopaedic Surgery and Research. - : Springer Science and Business Media LLC. - 1749-799X. ; 15:1
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Journal article (peer-reviewed)abstract
- BackgroundThere is conflicting evidence regarding the association between cam morphological changes and hip pain, and it remains unclear who with cam morphology will develop hip pain and who will not. This study aimed to investigate the correlation between cam morphology, hip pain, and activity level at a 5-year follow-up in young Alpine and Mogul skiers.MethodAll students (n = 76) at angstrom re Ski National Sports High School were invited and accepted participation in this prospective study at baseline. Magnetic resonance imaging (MRI) of both hips was conducted to evaluate the presence of cam morphology (alpha -angle >= 55 degrees) and its size alongside the reporting of hip pain, type, and frequency of training by the Back and hip questionnaire, at baseline. After 5 years, the skiers were invited to complete a shortened version of the same questionnaire.ResultsA total of 60 skiers (80%) completed the follow-up questionnaire, of which 53 had concomitant MRI data. Cam morphology was present in 25 skiers (47.2%, 39 hips). Hip pain at baseline and at follow-up was reported in 17 (28.3%) and 22 (36.7%) skiers, respectively. No correlations were found between the activity level, the frequency, and the size of cam morphology and hip pain, except for the right hip alpha -angle at 1 o'clock and hip pain in skiers with cam morphology at baseline (r(s) = 0.49; P = 0.03) and at follow-up (r(s) = 0.47; P = 0.04). A total of 73.3% skiers had retired, of which 48% reported this was due to injuries.ConclusionHip pain was not shown to be correlated, or had a low correlation, with activity level and the presence and size of cam morphology in young skiers on a 5-year follow-up. Based on these results, cam morphology or activity level did not affect hip pain to develop during 5 years of follow-up in young skiers. Furthermore, this study highlights that almost 75% of young elite skiers had retired from their elite career with almost 50% reporting that this was due to injuries sustained from skiing.
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| 4. |
- Amerstorfer, Eva Elisa, et al.
(author)
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What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members’ opinion
- 2019
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In: Pediatric Surgery International. - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 35:9, s. 935-943
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Journal article (peer-reviewed)abstract
- Purpose: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM. Methods: In 2018, a questionnaire was developed by the working group “Follow-up and sexuality” of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed. Results: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team. Conclusions: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue.
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| 5. |
- Aminoff, Anna
(author)
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Genetic and functional studies of MTTP and PLIN2 in relation to metabolic and cardiac dysfunction
- 2012
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Doctoral thesis (other academic/artistic)abstract
- Lipids including triglycerides, cholesterol, cholesterol esters and fatty acids are important sources for energy production, act as building blocks for intracellular compartments, are involved in numerous biological pathways and may act as signal molecules. Lipids are transported in blood as lipoproteins between organs, where they are immediately used in cellular processes or stored as cytosolic lipid droplets. The lipoprotein and intracellular lipid metabolism need to be under tight control to avoid adverse cellular events. Dyslipidaemia and ectopic lipid accumulation are associated with metabolic disorders such as obesity, insulin resistance, type 2 diabetes and a spectrum of cardiovascular diseases. Microsomal triglyceride transfer protein (MTTP) and perilipin 2 (PLIN2) are two main players in lipid metabolism. MTTP is crucial for the assembly of apolipoprotein B containing lipoproteins, which are mainly secreted by the liver as very low density lipoprotein, and the intestine as chylomicrons. PLIN2 is the main lipid droplet associated protein in non-adipose tissue and is important for the management of intracellular lipid droplets. This thesis investigates genetic variations in MTTP and PLIN2 and their relation to lipid metabolism and metabolic disorders. A common variant of MTTP, comprising two promoter polymorphisms (rs1800591G>T and rs1800804T>C), and a missense polymorphism (rs3816873/ Ile128Thr), results in decreased expression of MTTP and a less stable protein. The decreased expression, associated with the minor alleles, is mediated by allele-specific binding of nuclear factors to the rs1800804T>C polymorphism. As shown by association studies of cardiovascular diseases, and patients with suspected coronary artery disease undergoing extensively characterisation of their cardiac function, the minor allele of rs1800804T>C confers increased risk for cardiovascular diseases and negatively influences the cardiac function. Decreased cardiac MTTP may impair transport of surplus lipids from heart that may cause lipotoxicity and heart failure. Two patients suffering from Abetalipoproteinaemia were investigated and two novel mutations were identified. Abetalipoproteinaemia is a rare recessive monogenic disease caused by lack-of-function mutations in MTTP. The first proband is homozygous for a missense mutation in exon 13 of MTTP, p.Pro552Leu (NM_000253.2:c.1655C>T). Amino acid 552 is present in an α-helix domain predicted to bind to protein disulfide isomerase required for functional MTTP. There are three other missense mutations reported in exon 13 of MTTP that cause Abetalipoproteinaemia. The four missense mutations are associated with different severity of disease, and structural analysis of MTTP shows that the position of the mutations may reflect different functional domains of MTTP. The second proband was found to be homozygous for a duplication in the splice junction of intron 17, NM_000253.2:c.2342+2dup. The mother is a heterozygous carrier of this mutation, while no aberrations could be found in MTTP of the father. MTTP is located at 4q22-24, and analysis of microsatellite markers across the complete chromosome 4 showed that the proband has inherited two copies of chromosome 4 from only the mother, a condition called uniparental disomy. As a result of crossing over events, the interstitial region comprising MTTP, is inherited from only one of the mother’s chromosome 4, while the telomeric regions origins from both of the two maternal chromosomes. This explains why the proband is homozygous for the mutation while the mother is heterozygous. Genetic analysis of PLIN2 identified a missense polymorphism in exon 6, rs35568725 (Ser251Pro). The minor Pro251 allele is associated with decreased plasma triglyceride and very low density lipoprotein concentrations. Functional studies showed that the minor Pro251 allele disrupts an α-helix, is evolutionarily conserved, increases intracellular lipid accumulation and reduces lipolysis. This is the first time a genetic variant of PLIN2 has been shown to influence the lipid metabolism in humans. The Pro251 variant alters the function of PLIN2 and results in more stable lipid droplets, and appears to mediate an increased capacity to store intracellular lipids. The increased understanding of lipid metabolism in the past decade highlights that it is not the amount or concentration of lipid that is the most important issue for maintaining lipid homeostasis. In order to understand the underlying pathophysiology of metabolic disorders we need to address questions related to where, how and why different kinds of lipids are stored and used.
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| 6. |
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| 7. |
- Aminoff, Anna Swärd
(author)
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Hip range of motion and the prevalence of cam morphology in young athletes - clinical and radiological studies
- 2020
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Doctoral thesis (other academic/artistic)abstract
- Abstract Hip and groin pain is common among athletes and the active population, and one important cause for this is femoroacetabular impingement syndrome (FAIS). To meet the diagnosis of FAIS, a combination of radiological findings (cam and/or pincer morphology), hip pain and clinical findings (reduced hip joint range of motion (ROM) and/or positive anterior impingement test (FADIR)) needs to be present. To quantify a cam morphology, the α-angle is often measured, and a cam morphology is usually considered present with an α-angle of ≥55°. Factors that have been associated with the development of cam morphology are genetics, ethnicity and participation in high impact sports during the pubertal growth spurt. Why some individuals develop FAIS and others do not, in the presence of a cam morphology, is still unknown. Therefore, there are still many questions that need to be answered regarding the aetiology, prevalence, impacts of different types of sports and loads, and treatment of cam/pincer and FAIS. Cam-type FAIS has also been associated with early hip osteoarthritis, and therefore this thesis focuses on cam morphology of the hip. The overall aim of this thesis was to investigate the prevalence of cam morphology, hip ROM, hip pain and FAIS among young elite skiers and football players. Further, to investigate the relationship between hip ROM and cam, and hip range of motion and pelvic tilt (with and without cam morphology). Study 1 is a cross-sectional study, including 87 skiers and 27 non-athletes with a mean age of 17.7 (SD1.4) years, where the aim was to examine the relationship between the clinical examination of the hip and cam morphology. The study population was divided into cam- and no cam-groups depending on the -angle measured with MRI. The main findings showed that reduced hip joint internal rotation, hip flexion and a positive anterior impingement test were associated with MRI-verified cam. Study 2 is a cross-sectional study with the aim to investigate the effect of changes in pelvic tilt on hip ROM in individuals with and without cam. The same study population was included as in Study 1. The main finding was that dynamic changes in pelvic tilt significantly influenced hip ROM, independent of cam morphology. Study 3 is a cross-sectional study investigating the prevalence of cam morphology (-angle >55°) in a group of elite Mogul and Alpine skiers, compared with non-athletes and between the sexes. The same study population was included as in Study 1. The skiers had a significantly higher prevalence of cam compared with the non-athletes. A significant difference was also found between males and females, with males having a higher prevalence of cam. Study 4 is a cross-sectional study with the aim to investigate the difference in hip ROM, hip pain, cam morphology and FAIS in young athletes. One-hundred-and-thirty-five athletes (60 male soccer players, 40 male skiers and 35 female skiers) with a mean age of 17.7 (SD 1.2) years were included. Please find results in manuscript.
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| 8. |
- Aminoff, Anna Swärd, et al.
(author)
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Young elite Alpine and Mogul skiers have a higher prevalence of cam morphology than non-athletes
- 2020
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In: Knee Surgery Sports Traumatology Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 28:4, s. 1262-1269
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Journal article (peer-reviewed)abstract
- Purpose To investigate the prevalence of cam morphology in (1) a group of young elite Mogul and Alpine skiers compared with non-athletes and (2) between the sexes. Method The hip joints of 87 subjects [n = 61 young elite skiers (29 females and 32 males) and n = 26 non-athletes (17 females and 9 males)] were examined using MRI, for measurements of the presence of cam morphology (alpha-angle >= 55). Results The skiers had a significantly higher prevalence of cam morphology compared with the non-athletes (49% vs 19%, p = 0.009). A significant difference (p < 0.001) was also found between females and males, where 22% of the females and 61% of the males had cam morphology. Among the skiers, there was also a significant difference (p < 0.001) between the sexes, where 28% of the females and 68% of the males had cam morphology. This difference between the sexes was not found in the non-athletic group. No significant differences were found between Mogul and Alpine skiers. Conclusion Young male elite skiers have a higher prevalence of cam morphology of the hips compared with non-athletes.
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| 9. |
- Burström, Lage, et al.
(author)
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Musculoskeletal symptoms and exposure to whole-body vibration among open-pit mine workers in the arctic
- 2017
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In: International Journal of Occupational Medicine and Environmental Health. - : Nofer Institute of Occupational Medicine. - 1232-1087 .- 1896-494X. ; 30:4, s. 553-564
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Journal article (peer-reviewed)abstract
- Objectives: This cross-sectional questionnaire study was carried out at 4 open-pit mines in Finland, Norway, Russia and Sweden as part of the MineHealth project. The aim has been to compare the prevalence of musculoskeletal symptoms between drivers of mining vehicles and non-drivers. Material and Methods: The mine workers were asked whether they had suffered from any musculoskeletal symptoms during the previous 12 months in specified body regions, and to grade the severity of these symptoms during the past month. They were also asked about their daily driving of mining vehicles. Results: The questionnaire was completed by 1323 workers (757 vehicle drivers) and the reported prevalence and severity of symptoms were highest for the lower back, followed by pain in the neck, shoulder and upper back. Drivers in the Nordic mines reported fewer symptoms than non-drivers, while for Russian mine workers the results were the opposite of that. The daily driving of mining vehicles had no significant association with the risk of symptoms. Female drivers indicated a higher prevalence of symptoms as compared to male drivers. Conclusions: The study provided only weak support for the hypothesis that drivers of vehicles reported a higher prevalence of musculoskeletal symptoms than non-vehicle drivers. There were marked differences in the prevalence of symptoms among workers in various enterprises, even though the nature of the job tasks was similar.
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| 10. |
- Hageman, Isabel C., et al.
(author)
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A Quality Assessment of the ARM-Net Registry Design and Data Collection
- 2023
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In: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468. ; 58:10, s. 1921-1928
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Journal article (peer-reviewed)abstract
- Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. Material and methods: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. Results: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11–30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. Conclusions: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. Level of Evidence: V.
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