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- Albanese, Alberto, et al.
(författare)
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Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement
- 2015
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Ingår i: Journal of Neurology. - : Springer Science and Business Media LLC. - 1432-1459 .- 0340-5354. ; 262:10, s. 2201-2213
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Forskningsöversikt (refereegranskat)abstract
- Cervical dystonia is a neurological movement disorder causing abnormal posture of the head. It may be accompanied by involuntary movements which are sometimes tremulous. The condition has marked effects on patients' self-image, and adversely affects quality of life, social relationships and employment. Botulinum neurotoxin (BoNT) is the treatment of choice for CD and its efficacy and safety have been extensively studied in clinical trials. However, current guidelines do not provide enough practical information for physicians who wish to use this valuable treatment in a real-life setting. In addition, patients and physicians may have different perceptions of what successful treatment outcomes should be. Consequently, an international group of expert neurologists, experienced in BoNT treatment, met to review the literature and pool their extensive clinical experience to give practical guidance about treatment of CD with BoNT. Eight topic headings were considered: the place of BoNT within CD treatment options; patient perspectives and desires for treatment; assessment and goal setting; starting treatment with BoNT-A; follow-up sessions; management of side effects; management of non-response; switching between different BoNT products. One rapporteur took responsibility for summarising the current literature for each topic, while the consensus statements were developed by the entire expert group. These statements are presented here along with a discussion of the background information.
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- Sailer, Anna, et al.
(författare)
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A genome-wide association study in multiple system atrophy
- 2016
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Ingår i: Neurology. - 0028-3878. ; 87:15, s. 1591-1598
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. Results: We found no significant loci after stringent multiple testing correction. A number of regions emerged as potentially interesting for follow-up at p < 1 × 10-6, including SNPs in the genes FBXO47, ELOVL7, EDN1, and MAPT. Contrary to previous reports, we found no association of the genes SNCA and COQ2 with MSA. Conclusions: We present a GWAS in MSA. We have identified several potentially interesting gene loci, including the MAPT locus, whose significance will have to be evaluated in a larger sample set. Common genetic variation in SNCA and COQ2 does not seem to be associated with MSA. In the future, additional samples of well-characterized patients with MSA will need to be collected to perform a larger MSA GWAS, but this initial study forms the basis for these next steps.
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- Van Dorp, Wendy, et al.
(författare)
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Recommendations for premature ovarian insufficiency surveillance for female survivors of childhood, adolescent, and young adult cancer : A report from the International Late Effects of Childhood Cancer Guideline Harmonization Group in collaboration with the PanCareSurFup consortium
- 2016
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Ingår i: Journal of Clinical Oncology. - 0732-183X. ; 34:28, s. 3440-3450
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Forskningsöversikt (refereegranskat)abstract
- Purpose: Female survivors of childhood, adolescent, and young adult (CAYA) cancer who were treated with alkylating agents and/or radiation, with potential exposure of the ovaries, have an increased risk of premature ovarian insufficiency (POI). Clinical practice guidelines can facilitate these survivors' access to optimal treatment of late effects that may improve health and quality of survival; however, surveillance recommendations vary among the existing long-term follow-up guidelines, which impedes the implementation of screening. Patients and Methods: The present guideline was developed by using an evidence-based approach and summarizes harmonized POI surveillance recommendations for female survivors of CAYA cancer who were diagnosed at age < 25 years. The recommendations were formulated by an international multidisciplinary panel and graded according to the strength of the evidence and the potential benefit gained from early detection and intervention. The harmonized POI surveillance recommendations were developed by using a transparent process and are intended to facilitate care for survivors of CAYA cancer. Results and Conclusion: The harmonized set of POI surveillance recommendations is intended to be scientifically rigorous, to positively influence health outcomes, and to facilitate the care for female survivors of CAYA cancer.
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