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- Ashizawa, T., et al.
(författare)
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Consensus-based care recommendations for adults with myotonic dystrophy type 1
- 2018
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Ingår i: Neurology-Clinical Practice. - : Ovid Technologies (Wolters Kluwer Health). - 2163-0402 .- 2163-0933. ; 8:6, s. 507-520
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Forskningsöversikt (refereegranskat)abstract
- Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
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| 3. |
- Askenberger, M, et al.
(författare)
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Medial Patellofemoral Ligament Injuries in Children With First-Time Lateral Patellar Dislocations: A Magnetic Resonance Imaging and Arthroscopic Study
- 2016
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Ingår i: The American journal of sports medicine. - : SAGE Publications. - 1552-3365 .- 0363-5465. ; 44:1, s. 152-158
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Tidskriftsartikel (refereegranskat)abstract
- A lateral patellar dislocation (LPD) is the most common knee injury in children with traumatic knee hemarthrosis. The medial patellofemoral ligament (MPFL), the important passive stabilizer against LPDs, is injured in more than 90% of cases. The MPFL injury pattern is most often defined in adults or in mixed-age populations. The injury pattern in the skeletally immature patient may be different. Purpose: To describe MPFL injuries in the skeletally immature patient by magnetic resonance imaging (MRI), and to compare the results with the injury pattern found at arthroscopic surgery. Study Design: Case series; Level of evidence, 4. Methods: This was a prospective series of patients aged 9 to 14 years with acute, first-time traumatic LPDs in whom clinical examinations, radiographs, MRI, and arthroscopic surgery were performed within 2 weeks from the index injury. The MPFL injury was divided into 3 different groups according to the location: patellar site, femoral site, or multifocal. The MPFL injury site was confirmed on MRI by soft tissue edema. The length of the MPFL injury at the patellar site was measured at arthroscopic surgery, and those ≥2 cm were defined as total ruptures. Results: A total of 74 patients (40 girls and 34 boys; mean age, 13.1 years) were included; 73 patients (99%) had an MPFL injury according to MRI and arthroscopic surgery. The MRI scans showed an isolated MPFL injury at the patellar attachment site in 44 of 74 patients (60%), a multifocal injury in 26 patients (35%), an injury at the femoral site in 3 patients (4%), and no injury in 1 patient (1%). Arthroscopic surgery disclosed an isolated MPFL injury at the patellar site in 60 of 74 patients (81%) and a multifocal injury in 13 patients (18%); the MPFL injury at the patellar site was a total rupture in 49 patients (66%). Edema at the patellar attachment site on MRI was proven to be an MPFL rupture at the same site at arthroscopic surgery in 99% of the patients. A patellar-based injury, isolated or as part of a multifocal injury, was present on MRI in 95% (n = 70) of the patients, with a false-negative rate of 5% (n = 4) of patients compared with arthroscopic surgery. Conclusion: Skeletally immature children are more prone to sustaining an MPFL injury at the patellar attachment site. Arthroscopic surgery and MRI complement each other in the investigation of MPFL injuries.
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| 4. |
- Askenberger, M, et al.
(författare)
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Operative Repair of Medial Patellofemoral Ligament Injury Versus Knee Brace in Children With an Acute First-Time Traumatic Patellar Dislocation: A Randomized Controlled Trial
- 2018
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Ingår i: The American journal of sports medicine. - : SAGE Publications. - 1552-3365 .- 0363-5465. ; 46:10, s. 2328-2340
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Tidskriftsartikel (refereegranskat)abstract
- A lateral patellar dislocation (LPD) is the most common traumatic knee injury with hemarthrosis in children. The redislocation rate is high. Varying operative and nonoperative treatments have been advocated with no consensus on the best treatment.Purpose:(1) To evaluate if arthroscopic-assisted repair of the medial patellofemoral ligament (MPFL) in patients with an acute first-time traumatic LPD would reduce the recurrence rate and offer better objective/subjective knee function compared with a knee brace without repair. (2) To study the presence of anatomic patellar instability risk factors (APIFs) and their association with a redislocation.Study Design:Randomized controlled trial; Level of evidence, 1.Methods:This was a prospective series of 74 skeletally immature patients aged 9 to 14 years (38 girls and 36 boys; mean age, 13.1 years) with a first-time traumatic LPD, with clinical examinations, radiographs, magnetic resonance imaging, and diagnostic arthroscopic surgery performed within 2 weeks of the index injury. The child was randomized to either (1) a knee brace (KB group) for 4 weeks and physical therapy or (2) arthroscopic-assisted repair (R group) of the MPFL with anchors, 4 weeks with a soft cast splint, and physical therapy. The follow-up time was 2 years.Results:The redislocation rate was significantly lower in the R group than in the KB group at final follow-up: 8 patients (22%) versus 16 patients (43%), respectively ( P = .047). The Knee injury and Osteoarthritis Outcome Score for children sport/play and quality of life subscales had lower scores in the R group compared with the KB group; the significant differences were among those with redislocations. The mean Kujala score was excellent in the KB group (95.9) and good in the R group (90.9). An impaired Limb Symmetry Index (median, 83%) for concentric quadriceps torque at 90 deg/s was found only in the R group. Eighty-one percent of the study patients had ≥2 APIFs. Trochlear dysplasia (trochlear depth <3 mm) had the highest odds ratio for redislocations (2.35 [95% CI, 0.69-8.03]), with no significant association between APIFs and a redislocation.Conclusion:Operative repair of an MPFL injury in the acute phase in skeletally immature children with a primary traumatic LPD significantly reduced the redislocation rate but did not improve subjective or objective knee function compared with a knee brace without repair. The majority of the patients in both groups were satisfied with their knee function. There was a high representation of APIFs, which needs to be considered when evaluating the risk of redislocations.Registration:ISRCTN 39959729 (Current Controlled Trials).
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| 7. |
- Checknita, David, et al.
(författare)
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Associations of monoamine oxidase A gene first exon methylation with sexual abuse and current depression in women
- 2018
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Ingår i: Journal of neural transmission. - : SPRINGER WIEN. - 0300-9564 .- 1435-1463. ; 125:7, s. 1053-1064
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Tidskriftsartikel (refereegranskat)abstract
- Childhood physical abuse (PA) and sexual abuse (SA) interact with monoamine oxidase A (MAOA) gene polymorphism to modify risk for mental disorders. In addition, PA and SA may alter gene activity through epigenetic mechanisms such as DNA methylation, thereby further modifying risk for disorders. We investigated whether methylation in a region spanning the MAOA first exon and part of the first intron was associated with PA and/or SA, MAOA genotype, alcohol dependence, drug dependence, depression disorders, anxiety disorders, and conduct disorder. 114 Swedish women completed standardized diagnostic interviews and questionnaires to report PA and SA, and provided saliva samples for DNA extraction. DNA was genotyped for MAOA-uVNTR polymorphisms, and methylation of a MAOA region of interest (chrX: 43,515,544-43,515,991) was measured. SA, not PA, was associated with hypermethylation of the MAOA first exon relative to no-abuse, and the association was robust to adjustment for psychoactive medication, alcohol and drug dependence, and current substance use. SA and MAOA-uVNTR genotype, but not their interaction, was associated with MAOA methylation. SA associated with all measured mental disorders. Hypermethylation of MAOA first exon mediated the association of SA with current depression, and both methylation levels and SA independently predicted lifetime depression. Much remains to be learned about the independent effects of SA and MAOA-uVNTR genotypes on methylation of the MAOA first exon.
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| 9. |
- Ekstrom, A., et al.
(författare)
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Accurate nuclear radii and binding energies from a chiral interaction
- 2015
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Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 91:5
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Tidskriftsartikel (refereegranskat)abstract
- With the goal of developing predictive ab initio capability for light and medium-mass nuclei, two-nucleon and three-nucleon forces from chiral effective field theory are optimized simultaneously to low-energy nucleon-nucleon scattering data, as well as binding energies and radii of few-nucleon systems and selected isotopes of carbon and oxygen. Coupled-cluster calculations based on this interaction, named NNLOsat, yield accurate binding energies and radii of nuclei up to Ca-40, and are consistent with the empirical saturation point of symmetric nuclear matter. In addition, the low-lying collective J(pi) = 3(-) states in O-16 and 40Ca are described accurately, while spectra for selected p- and sd-shell nuclei are in reasonable agreement with experiment.
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| 11. |
- Hagen, G., et al.
(författare)
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Neutron and weak-charge distributions of the Ca-48 nucleus
- 2016
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Ingår i: Nature Physics. - : Springer Science and Business Media LLC. - 1745-2481 .- 1745-2473. ; 12:2, s. 186-190
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Tidskriftsartikel (refereegranskat)abstract
- What is the size of the atomic nucleus? This deceivably simple question is difficult to answer. Although the electric charge distributions in atomic nuclei were measured accurately already half a century ago, our knowledge of the distribution of neutrons is still deficient. In addition to constraining the size of atomic nuclei, the neutron distribution also impacts the number of nuclei that can exist and the size of neutron stars. We present an ab initio calculation of the neutron distribution of the neutron-rich nucleus Ca-48. We show that the neutron skin (difference between the radii of the neutron and proton distributions) is significantly smaller than previously thought. We also make predictions for the electric dipole polarizability and the weak form factor; both quantities that are at present targeted by precision measurements. Based on ab initio results for Ca-48, we provide a constraint on the size of a neutron star.
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